Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genetic Variation: Genotypic differences observed among individuals in a population.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Hepacivirus: A genus of FLAVIVIRIDAE causing parenterally-transmitted HEPATITIS C which is associated with transfusions and drug abuse. Hepatitis C virus is the type species.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Homozygote: An individual in which both alleles at a given locus are identical.Molecular Epidemiology: The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.China: A country spanning from central Asia to the Pacific Ocean.Methylenetetrahydrofolate Reductase (NADPH2): A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 1.1.1.171.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Glutathione Transferase: A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.Hepatitis C: INFLAMMATION of the LIVER in humans caused by HEPATITIS C VIRUS, a single-stranded RNA virus. Its incubation period is 30-90 days. Hepatitis C is transmitted primarily by contaminated blood parenterally, and is often associated with transfusion and intravenous drug abuse. However, in a significant number of cases, the source of hepatitis C infection is unknown.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Hepatitis C, Chronic: INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.RNA, Viral: Ribonucleic acid that makes up the genetic material of viruses.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Ribavirin: A nucleoside antimetabolite antiviral agent that blocks nucleic acid synthesis and is used against both RNA and DNA viruses.Hepatitis B virus: The type species of the genus ORTHOHEPADNAVIRUS which causes human HEPATITIS B and is also apparently a causal agent in human HEPATOCELLULAR CARCINOMA. The Dane particle is an intact hepatitis virion, named after its discoverer. Non-infectious spherical and tubular particles are also seen in the serum.Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.Catechol O-Methyltransferase: Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.Peptidyl-Dipeptidase A: A peptidyl-dipeptidase that catalyzes the release of a C-terminal dipeptide, -Xaa-*-Xbb-Xcc, when neither Xaa nor Xbb is Pro. It is a Cl(-)-dependent, zinc glycoprotein that is generally membrane-bound and active at neutral pH. It may also have endopeptidase activity on some substrates. (From Enzyme Nomenclature, 1992) EC 3.4.15.1.Antiviral Agents: Agents used in the prophylaxis or therapy of VIRUS DISEASES. Some of the ways they may act include preventing viral replication by inhibiting viral DNA polymerase; binding to specific cell-surface receptors and inhibiting viral penetration or uncoating; inhibiting viral protein synthesis; or blocking late stages of virus assembly.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Interferon-alpha: One of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells. In addition to antiviral activity, it activates NATURAL KILLER CELLS and B-LYMPHOCYTES, and down-regulates VASCULAR ENDOTHELIAL GROWTH FACTOR expression through PI-3 KINASE and MAPK KINASES signaling pathways.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Apolipoproteins E: A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Arylamine N-Acetyltransferase: An enzyme that catalyzes the transfer of acetyl groups from ACETYL-COA to arylamines. It can also catalyze acetyl transfer between arylamines without COENZYME A and has a wide specificity for aromatic amines, including SEROTONIN. However, arylamine N-acetyltransferase should not be confused with the enzyme ARYLALKYLAMINE N-ACETYLTRANSFERASE which is also referred to as SEROTONIN ACETYLTRANSFERASE.DNA, Viral: Deoxyribonucleic acid that makes up the genetic material of viruses.Minisatellite Repeats: Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.JapanCohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Genome, Viral: The complete genetic complement contained in a DNA or RNA molecule in a virus.Aryl Hydrocarbon Hydroxylases: A large group of cytochrome P-450 (heme-thiolate) monooxygenases that complex with NAD(P)H-FLAVIN OXIDOREDUCTASE in numerous mixed-function oxidations of aromatic compounds. They catalyze hydroxylation of a broad spectrum of substrates and are important in the metabolism of steroids, drugs, and toxins such as PHENOBARBITAL, carcinogens, and insecticides.Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).Odds Ratio: The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.Serotonin Plasma Membrane Transport Proteins: Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of serotonergic neurons. They are different than SEROTONIN RECEPTORS, which signal cellular responses to SEROTONIN. They remove SEROTONIN from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. Regulates signal amplitude and duration at serotonergic synapses and is the site of action of the SEROTONIN UPTAKE INHIBITORS.Polyethylene Glycols: Polymers of ETHYLENE OXIDE and water, and their ethers. They vary in consistency from liquid to solid depending on the molecular weight indicated by a number following the name. They are used as SURFACTANTS, dispersing agents, solvents, ointment and suppository bases, vehicles, and tablet excipients. Some specific groups are NONOXYNOLS, OCTOXYNOLS, and POLOXAMERS.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Apolipoprotein E4: A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.DNA Fingerprinting: A technique for identifying individuals of a species that is based on the uniqueness of their DNA sequence. Uniqueness is determined by identifying which combination of allelic variations occur in the individual at a statistically relevant number of different loci. In forensic studies, RESTRICTION FRAGMENT LENGTH POLYMORPHISM of multiple, highly polymorphic VNTR LOCI or MICROSATELLITE REPEAT loci are analyzed. The number of loci used for the profile depends on the ALLELE FREQUENCY in the population.Hepatitis E virus: A positive-stranded RNA virus species in the genus HEPEVIRUS, causing enterically-transmitted non-A, non-B hepatitis (HEPATITIS E).Viral Load: The quantity of measurable virus in a body fluid. Change in viral load, measured in plasma, is sometimes used as a SURROGATE MARKER in disease progression.Cytochrome P-450 CYP2D6: A cytochrome P450 enzyme that catalyzes the hydroxylation of many drugs and environmental chemicals, such as DEBRISOQUINE; ADRENERGIC RECEPTOR ANTAGONISTS; and TRICYCLIC ANTIDEPRESSANTS. This enzyme is deficient in up to 10 percent of the Caucasian population.Hepatitis B: INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Molecular Typing: Using MOLECULAR BIOLOGY techniques, such as DNA SEQUENCE ANALYSIS; PULSED-FIELD GEL ELECTROPHORESIS; and DNA FINGERPRINTING, to identify, classify, and compare organisms and their subtypes.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Glutathione S-Transferase pi: A glutathione transferase that catalyzes the conjugation of electrophilic substrates to GLUTATHIONE. This enzyme has been shown to provide cellular protection against redox-mediated damage by FREE RADICALS.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Breeding: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.BrazilViral Nonstructural Proteins: Proteins encoded by a VIRAL GENOME that are produced in the organisms they infect, but not packaged into the VIRUS PARTICLES. Some of these proteins may play roles within the infected cell during VIRUS REPLICATION or act in regulation of virus replication or VIRUS ASSEMBLY.Hepatitis E: Acute INFLAMMATION of the LIVER in humans; caused by HEPATITIS E VIRUS, a non-enveloped single-stranded RNA virus. Similar to HEPATITIS A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Bacterial Typing Techniques: Procedures for identifying types and strains of bacteria. The most frequently employed typing systems are BACTERIOPHAGE TYPING and SEROTYPING as well as bacteriocin typing and biotyping.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Hepatitis B, Chronic: INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Sequence Homology: The degree of similarity between sequences. Studies of AMINO ACID SEQUENCE HOMOLOGY and NUCLEIC ACID SEQUENCE HOMOLOGY provide useful information about the genetic relatedness of genes, gene products, and species.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Oxidoreductases Acting on CH-NH Group Donors: Enzymes catalyzing the dehydrogenation of secondary amines, introducing a C=N double bond as the primary reaction. In some cases this is later hydrolyzed.Smoking: Inhaling and exhaling the smoke of burning TOBACCO.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Rotavirus Infections: Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.Rotavirus: A genus of REOVIRIDAE, causing acute gastroenteritis in BIRDS and MAMMALS, including humans. Transmission is horizontal and by environmental contamination. Seven species (Rotaviruses A thru G) are recognized.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)DNA, Protozoan: Deoxyribonucleic acid that makes up the genetic material of protozoa.Random Amplified Polymorphic DNA Technique: Technique that utilizes low-stringency polymerase chain reaction (PCR) amplification with single primers of arbitrary sequence to generate strain-specific arrays of anonymous DNA fragments. RAPD technique may be used to determine taxonomic identity, assess kinship relationships, analyze mixed genome samples, and create specific probes.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Mannose-Binding Lectin: A specific mannose-binding member of the collectin family of lectins. It binds to carbohydrate groups on invading pathogens and plays a key role in the MANNOSE-BINDING LECTIN COMPLEMENT PATHWAY.Feces: Excrement from the INTESTINES, containing unabsorbed solids, waste products, secretions, and BACTERIA of the DIGESTIVE SYSTEM.IndiaAge of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Korea: Former kingdom, located on Korea Peninsula between Sea of Japan and Yellow Sea on east coast of Asia. In 1948, the kingdom ceased and two independent countries were formed, divided by the 38th parallel.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Disease Susceptibility: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.Norovirus: A genus in the family CALICIVIRIDAE, associated with epidemic GASTROENTERITIS in humans. The type species, NORWALK VIRUS, contains multiple strains.Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Sensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Cryptosporidium: A genus of coccidian parasites of the family CRYPTOSPORIDIIDAE, found in the intestinal epithelium of many vertebrates including humans.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Cattle: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Chi-Square Distribution: A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.5' Untranslated Regions: The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regulating sequences.Disease Outbreaks: Sudden increase in the incidence of a disease. The concept includes EPIDEMICS and PANDEMICS.Gastroenteritis: INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER.TaiwanPapillomavirus Infections: Neoplasms of the skin and mucous membranes caused by papillomaviruses. They are usually benign but some have a high risk for malignant progression.Environment: The external elements and conditions which surround, influence, and affect the life and development of an organism or population.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).PakistanGene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Amplified Fragment Length Polymorphism Analysis: The detection of RESTRICTION FRAGMENT LENGTH POLYMORPHISMS by selective PCR amplification of restriction fragments derived from genomic DNA followed by electrophoretic analysis of the amplified restriction fragments.Caliciviridae Infections: Virus diseases caused by CALICIVIRIDAE. They include HEPATITIS E; VESICULAR EXANTHEMA OF SWINE; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Swine: Any of various animals that constitute the family Suidae and comprise stout-bodied, short-legged omnivorous mammals with thick skin, usually covered with coarse bristles, a rather long mobile snout, and small tail. Included are the genera Babyrousa, Phacochoerus (wart hogs), and Sus, the latter containing the domestic pig (see SUS SCROFA).ItalyMutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Cryptosporidiosis: Intestinal infection with organisms of the genus CRYPTOSPORIDIUM. It occurs in both animals and humans. Symptoms include severe DIARRHEA.Hepatitis B Surface Antigens: Those hepatitis B antigens found on the surface of the Dane particle and on the 20 nm spherical and tubular particles. Several subspecificities of the surface antigen are known. These were formerly called the Australia antigen.Virulence: The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Tunisia: A country in northern Africa between ALGERIA and LIBYA. Its capital is Tunis.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Likelihood Functions: Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.ArgentinaHapMap Project: A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.Folic Acid: A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (POACEAE). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia.Homocysteine: A thiol-containing amino acid formed by a demethylation of METHIONINE.Geography: The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)DNA, Ribosomal Spacer: The intergenic DNA segments that are between the ribosomal RNA genes (internal transcribed spacers) and between the tandemly repeated units of rDNA (external transcribed spacers and nontranscribed spacers).Drug Therapy, Combination: Therapy with two or more separate preparations given for a combined effect.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Hepatitis C Antibodies: Antibodies to the HEPATITIS C ANTIGENS including antibodies to envelope, core, and non-structural proteins.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Cytochrome P-450 CYP1A1: A liver microsomal cytochrome P-450 monooxygenase capable of biotransforming xenobiotics such as polycyclic hydrocarbons and halogenated aromatic hydrocarbons into carcinogenic or mutagenic compounds. They have been found in mammals and fish. This enzyme, encoded by CYP1A1 gene, can be measured by using ethoxyresorufin as a substrate for the ethoxyresorufin O-deethylase activity.Mycobacterium tuberculosis: A species of gram-positive, aerobic bacteria that produces TUBERCULOSIS in humans, other primates, CATTLE; DOGS; and some other animals which have contact with humans. Growth tends to be in serpentine, cordlike masses in which the bacilli show a parallel orientation.Serotyping: Process of determining and distinguishing species of bacteria or viruses based on antigens they share.TurkeyDrug Resistance, Viral: The ability of viruses to resist or to become tolerant to chemotherapeutic agents or antiviral agents. This resistance is acquired through gene mutation.Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Apolipoprotein E2: One of three major isoforms of apolipoprotein E. In humans, Apo E2 differs from APOLIPOPROTEIN E3 at one residue 158 where arginine is replaced by cysteine (R158--C). In contrast to Apo E3, Apo E2 displays extremely low binding affinity for LDL receptors (RECEPTORS, LDL) which mediate the internalization and catabolism of lipoprotein particles in liver cells. ApoE2 allelic homozygosity is associated with HYPERLIPOPROTEINEMIA TYPE III.Coinfection: Simultaneous infection of a host organism by two or more pathogens. In virology, coinfection commonly refers to simultaneous infection of a single cell by two or more different viruses.Receptors, Calcitriol: Proteins, usually found in the cytoplasm, that specifically bind calcitriol, migrate to the nucleus, and regulate transcription of specific segments of DNA with the participation of D receptor interacting proteins (called DRIP). Vitamin D is converted in the liver and kidney to calcitriol and ultimately acts through these receptors.Sheep: Any of the ruminant mammals with curved horns in the genus Ovis, family Bovidae. They possess lachrymal grooves and interdigital glands, which are absent in GOATS.EuropePapillomaviridae: A family of small, non-enveloped DNA viruses infecting birds and most mammals, especially humans. They are grouped into multiple genera, but the viruses are highly host-species specific and tissue-restricted. They are commonly divided into hundreds of papillomavirus "types", each with specific gene function and gene control regions, despite sequence homology. Human papillomaviruses are found in the genera ALPHAPAPILLOMAVIRUS; BETAPAPILLOMAVIRUS; GAMMAPAPILLOMAVIRUS; and MUPAPILLOMAVIRUS.Mixed Function Oxygenases: Widely distributed enzymes that carry out oxidation-reduction reactions in which one atom of the oxygen molecule is incorporated into the organic substrate; the other oxygen atom is reduced and combined with hydrogen ions to form water. They are also known as monooxygenases or hydroxylases. These reactions require two substrates as reductants for each of the two oxygen atoms. There are different classes of monooxygenases depending on the type of hydrogen-providing cosubstrate (COENZYMES) required in the mixed-function oxidation.Plant Diseases: Diseases of plants.Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.Haptoglobins: Plasma glycoproteins that form a stable complex with hemoglobin to aid the recycling of heme iron. They are encoded in man by a gene on the short arm of chromosome 16.MexicoVitamin K Epoxide Reductases: OXIDOREDUCTASES which mediate vitamin K metabolism by converting inactive vitamin K 2,3-epoxide to active vitamin K.Aldehyde Dehydrogenase: An enzyme that oxidizes an aldehyde in the presence of NAD+ and water to an acid and NADH. This enzyme was formerly classified as EC 1.1.1.70.Scrapie: A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS.Sex Characteristics: Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.Glucuronosyltransferase: A family of enzymes accepting a wide range of substrates, including phenols, alcohols, amines, and fatty acids. They function as drug-metabolizing enzymes that catalyze the conjugation of UDPglucuronic acid to a variety of endogenous and exogenous compounds. EC 2.4.1.17.Models, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Spain: Parliamentary democracy located between France on the northeast and Portugual on the west and bordered by the Atlantic Ocean and the Mediterranean Sea.Apolipoprotein E3: A 34-kDa glycosylated protein. A major and most common isoform of apolipoprotein E. Therefore, it is also known as apolipoprotein E (ApoE). In human, Apo E3 is a 299-amino acid protein with a cysteine at the 112 and an arginine at the 158 position. It is involved with the transport of TRIGLYCERIDES; PHOSPHOLIPIDS; CHOLESTEROL; and CHOLESTERYL ESTERS in and out of the cells.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.HIV Infections: Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.Blood DonorsSwine Diseases: Diseases of domestic swine and of the wild boar of the genus Sus.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.France: A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris.Infant, Newborn: An infant during the first month after birth.Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Inbreeding: The mating of plants or non-human animals which are closely related genetically.Computer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.Heterozygote Detection: Identification of genetic carriers for a given trait.Multilocus Sequence Typing: Direct nucleotide sequencing of gene fragments from multiple housekeeping genes for the purpose of phylogenetic analysis, organism identification, and typing of species, strain, serovar, or other distinguishable phylogenetic level.Plant Leaves: Expanded structures, usually green, of vascular plants, characteristically consisting of a bladelike expansion attached to a stem, and functioning as the principal organ of photosynthesis and transpiration. (American Heritage Dictionary, 2d ed)Meat: The edible portions of any animal used for food including domestic mammals (the major ones being cattle, swine, and sheep) along with poultry, fish, shellfish, and game.Asia: The largest of the continents. It was known to the Romans more specifically as what we know today as Asia Minor. The name comes from at least two possible sources: from the Assyrian asu (to rise) or from the Sanskrit usa (dawn), both with reference to its being the land of the rising sun, i.e., eastern as opposed to Europe, to the west. (From Webster's New Geographical Dictionary, 1988, p82 & Room, Brewer's Dictionary of Names, 1992, p34)Plant Roots: The usually underground portions of a plant that serve as support, store food, and through which water and mineral nutrients enter the plant. (From American Heritage Dictionary, 1982; Concise Dictionary of Biology, 1990)Thailand: Formerly known as Siam, this is a Southeast Asian nation at the center of the Indochina peninsula. Bangkok is the capital city.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Capsid Proteins: Proteins that form the CAPSID of VIRUSES.Phylogeography: A field of study concerned with the principles and processes governing the geographic distributions of genealogical lineages, especially those within and among closely related species. (Avise, J.C., Phylogeography: The History and Formation of Species. Harvard University Press, 2000)Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.

*  British Library EThOS: Competition studies of genotype interactions in crop...
Crop growth/genetic research Agronomy Plant diseases Horticulture Agricultural chemicals Pesticides Feeds Human anatomy
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.381915
*  Biology-Online • View topic - phenotype and genotype ratio
but what if I have Rr Rr rr rr? Is the phenotype 2:2 and genotype 1:1? what about Rr Rr Rr Rr? My book doens't explain it very ... I'm confused about phenotype and genotype ratio after you do a monohybrid cross. for example, after the cross, I have RR Rr Rr ... Again, if we cross a heterozygous white (Ww) with a homozygous yellow (ww), we get the following genotypes - Ww and ww, i.e., ... phenotype and genotype ratio. Genetics as it applies to evolution, molecular biology, and medical aspects. ...
http://biology-online.org/biology-forum/post-23925.html
*  SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to...
Human MutationVolume 30, Issue 7, Version of Record online: 3 MAR 2009 ...
http://onlinelibrary.wiley.com/doi/10.1002/humu.21006/pdf
*  Genetic associations between cathepsin D exon 2 C→T polymorphism and Alzheimer...
CTSD genotype frequencies in AD were not significantly different from those in control subjects, nor did these differ between ... CTSD and APOE genotyping were performed by PCR on DNA extracted from blood, or from frontal cortex or cerebellum in the ...
http://jnnp.bmj.com/content/77/4/515
*  Cross tolerance to salbutamol occurs independently of β2 adrenoceptor genotype...
We selected our patients according to homozygous genotypes at position 16, irrespective of the genotype at position 27. Data ... equally in both genotype and treatment groups. There were no differences in salbutamol recovery in either genotype or treatment ... and salbutamol recovery were similar for both treatments and genotypes. Pre-challenge FEV1 values for both genotypes did not ... Irrespective of genotype-16, salbutamol recovery exhibited cross tolerance in patients exposed to BUD + FM or FP + SM.
http://thorax.bmj.com/content/59/8/662
*  British Library EThOS: Studies on abiotic stress tolerance in Hordeum vulgare L...
To investigate which traits confer tolerance on plants in these areas a range of genotypes was studied. These included Local ( ... Studies on abiotic stress tolerance in Hordeum vulgare L. genotypes from arid and temperate regions ...
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.616348
*  Comprehensive genotype-phenotype correlations between NLRP7 mutations and the...
Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation ... In this study, we characterised the expression of the imprinted, maternally expressed gene, CDKN1C (p57KIP2), the genotype, and ... Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation ...
http://jmg.bmj.com/content/51/9/623
*  New insights into cystinuria: 40 new mutations, genotype-phenotype correlation,...
Patients not fully genotyped were also analysed for the other cystinuria gene. Untyped patients were analysed for both genes as ... Genotype-phenotype correlation. Most type A alleles segregate with cystinuria type I, but type A mutations explained phenotype ... Table 8 shows the excretion of cystine and dibasic amino acids in urine of patients in relation to their allele genotype (A or ... For phenotype-genotype correlation studies two classifications were established, one based on urinary amino acid
http://jmg.bmj.com/content/42/1/58?ijkey=41ed2247c7591a39841f02a3e18dde75ab681bad&keytype2=tf_ipsecsha
*  Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH)...
In addition, we provide a web application for retrieving country-specific information on genotypes and genotype-specific ... Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in ... Methods A literature search revealed 690 different phenylalanine hydroxylase genotypes in 3066 phenylketonuria patients from ... Results Shared patterns in genotype-specific functional landscapes were linked to biochemical and pharmacological phenotypes,
http://jmg.bmj.com/content/early/2015/01/16/jmedgenet-2014-102621
*  Extramacular drusen are highly associated with age-related macular degeneration...
However, EMD were not AMD-independently associated with CFH or ARMS2 genotypes. Our results indicate that patients without AMD ... Extramacular drusen are highly associated with age-related macular degeneration, but not with CFH and ARMS2 genotypes ... Extramacular drusen are highly associated with age-related macular degeneration, but not with CFH and ARMS2 genotypes ... and ARMS2 genotypes (p=1.67×10−8). After adjustment for AMD, age and gender, EMD were neither associated with CFH (p=0.11) nor ...
http://bjo.bmj.com/content/early/2015/11/27/bjophthalmol-2015-306806
*  Hepatitis C Genotypes - Concord Hospital - Concord, NH
... Skip to Content. 603 225-2711. I am looking for. About. Classes Events. News. Careers. Patient CONNECT. Menu. Main Navigation Find A Doctor. Care Treatment. Locations. Patients Visitors. Wellness. Healthcare Professionals. You are here: Home. Wellness. Health Library. Hepatitis C Genotypes. Jump to Section Links. Browse and register for related classes. Hepatitis C Genotypes Skip to the navigation Topic Overview Six major strains genotypes of the hepatitis C virus HCV cause infection. You may be infected with more than one genotype at a time. Genotype 1 is the most common strain in the United States. Genotypes 1, 2, and 3 are found worldwide. Genotype 4 is found throughout northern Africa. Genotype 5 commonly is found in South Africa. Genotype 6 is common in Asia. Genotype testing is done with a blood test. How genotype affects treatment Although genotype tests are not used to diagnose HCV infection, they may be done ...
http://concordhospital.org/wellness-resources/health-library/healthwise-document-viewer/?id=aa131179
*  Genotyping Strategy - Phase II - ADVANCE: Atherosclerotic Disease Vascular Function and Genetic Epid
... emiology - Stanford University School of Medicine. Search This Site Only. Phase II Genotyping Strategy Initial Whole Genome Scan. In the first stage of the ADVANCE whole genome scan we will use the Infinium II Whole Genome Genotyping Assay that was developed by Illumina, Inc. Following hybridization, a single base extension reaction is performed in parallel for all SNPs being interrogated on the BeadArray. Third, unlike several other ultra-high throughput genotyping methods, almost all regions of the human genome are amplified and assayable with the Illumina system, generating highly accurate genotypes with very low no call rates. In our hands, the Infinium II assay has performed remarkably well, with call rates 99.93% and accuracy rates 99.99%. SNPs for the 12K platform will be selected based on several criteria: strength of signal from the association study, size of potential regions and/or candidate genes involved, degree of linkage disequilibrium in these regions, presence of coding SNPs in ...
http://med.stanford.edu/advance/phase2/genotyping.html
*  Expressivity (genetics)
Expressivity genetics. Expressivity genetics. In genetics, 'expressivity' quantifies variation in a non-binary phenotype across individuals carrying a particular genotype. It is equal to the proportion of individuals carriers of a genotype for a trait who show the trait to a specifiable extent as in the "shades of blue" example below. This differs from penetrance, the term that measures how often a gene generates its associated phenotype to any extent that makes an individual carrier different from the wild type. Expressivity therefore characterizes non-binary qualitatively or quantitatively the extent of phenotypic variation 'within' a particular genotype. With binary phenotypes e.g., albino vs. wild type expressivity and penetrance are the same. The term is analogous to the severity of a condition in clinical medicine. For example, the volume of blood ejected from the pumping heart with each contraction, relative to the total amount of blood contained in the heart's chamber can be ...
https://en.wikipedia.org/wiki/Expressivity_(genetics)
*  Genotype test questions
POZ Community Forums. HIV Prevention and Testing Am I Infected. Stats Total Posts: 675769 Total Topics: 52431 Online Today: 157 Online Ever: 585 January 07, 2014, 02:31:47 PM. Anyone who needs to post more than three messages in the "Am I Infected?" forum -- including past, present and future POZ Forums members -- will need to subscribe, with secure payments made via PayPal. NOTE: HIV testing questions will still need to be posted in the "Am I Infected?" forum; attempts to post HIV symptoms or testing questions in any other forums will be considered violations of our rules of membership and subject to time-outs and permanent bans. To learn how to upgrade your Forums account to participate beyond three posts in the "Am I Infected?" Forum, please click here. Re: Genotype test questions Reply #1 on: September 10, 2006, 09:52:35 AM. Re: Genotype test questions Reply #2 on: September 10, 2006, 10:14:09 AM. Re: Genotype test questions Reply #3 on: September 10, 2006, 07:09:30 PM. Re: ...
http://forums.poz.com/index.php?topic=3713.msg42199
*  View Individual Genotype Batch
... dbVar ClinVar GaP PubMed Nucleotide Protein. Search small variations in dbSNP or large structural variations in dbVar Search Entrez. dbSNP dbVar. for. Have a question about dbSNP. Try searching the SNP FAQ Archive. GENERAL RSS Feed. Contact Us Site Map dbSNP Homepage NCBI Variation Resources Announcements. dbSNP Summary. FTP Download HUMAN VARIATION Search, Annotate, Submit Annotate and Submit Batch Data with Clinical Impact Attributes for Filtering Variation. SNP SUBMISSION How to Submit Handle Request. DOCUMENTATION dbSNP Fact Sheet. Build Release Note Build History Search FAQ Archive dbSNP Handbook Overview SNP Science Primer Database Schema Database Dictionary Database Changes Genotype Schema Data Formats. Docsum Schema. Heterozygosity Computation SEARCH Variation Reporter Variation Viewer Entrez SNP EUtils API Blast SNP Batch Query. Genotype Query. By Submitter. New Batches. Method Population Detail Publication. RELATED SITES NCBI Variation resources dbVar dbGaP ClinVar GTR dbMHC. See ...
http://ncbi.nlm.nih.gov/projects/SNP/snp_viewBatch.cgi?ibid=503161
*  Visit to Dr. Amin. My viral genotype shows the virus...
visit to dr amin my viral genotype shows the virus jabberwocky for october entry previous january february march april may june july august september october november december next thu oct visit to dr amin my viral genotype shows the virus is resistent to all the protease inhibitors but there are other things he wants to try i talked him into waiting until i get back from london to start a medicine changes i have to go in for a colonoscopy bleah frances whitney
http://crummy.com/jabberwocky/2002/10/10/0
*  JCVI: Effects of Human TRIM5alpha Polymorphisms on Antiretroviral Function and Susceptibility to Hum
... an Immunodeficiency Virus Infection. Sustainable Lab. Publications. Education. Press. Careers. Contact. Listing. Publications. Citation. Javanbakht, H., An, P., Gold, B., Petersen, D. W., O'Brien, S. J., Kirk, G. D., Detels, R., Buchbinder, S., Donfield, S., Shulenin, S., Song, B., Perron, M. J., Stremlau, M., Sodroski, J., Dean, M., Winkler, C. Effects of Human TRIM5alpha Polymorphisms on Antiretroviral Function and Susceptibility to Human Immunodeficiency Virus Infection. Virology. 2006 Oct 10; 354 1 : 15-27. PubMed Citation. Abstract. TRIM5alpha acts on several retroviruses, including human immunodeficiency virus HIV-1, to restrict cross-species transmission. Using natural history cohorts and tissue culture systems, we examined the effect of polymorphism in human TRIM5alpha on HIV-1 infection. In African Americans, the frequencies of two non-coding SNP variant alleles in exon 1 and intron 1 of TRIM5 were elevated in HIV-1-infected persons compared with uninfected subjects. By contrast, the frequency ...
http://jcvi.org/cms/publications/listing/abstract/article/effects-of-human-trim5alpha-polymorphisms-on-antiretroviral-function-and-susceptibility-to-human-imm/
*  Blood Journal | Prevalence of the Inactivating 609C→T Polymorphism in the NAD(P)H:Quinone Oxidored
Prevalence of the Inactivating 609C→T Polymorphism in the NAD P H:Quinone Oxidoreductase NQO1 Gene in Patients With Primary and Therapy-Related Myeloid Leukemia. Prevalence of the Inactivating 609 C→T Polymorphism in the NAD P H:Quinone Oxidoreductase NQO1 Gene in Patients With Primary and Therapy-Related Myeloid Leukemia. Smith. Of the 45 leukemia patients who had clonal abnormalities of chromosomes 5 and/or 7, 7 16% were homozygous for the inactivating polymorphism, 17 38% were heterozygous, and 21 47% had 2 wild-type alleles for NQO1. Thus, the frequency of an inactivating polymorphism in NQO1 appears to be increased in this cohort of myeloid leukemias, especially among those with t-AML or an abnormality of chromosomes 5 and/or 7. The frequency of the NQO1 polymorphism was significantly increased among all 104 patients P = .050 and among the 56 patients with t-AML P = .036 compared with the frequency expected. Frequency of the NQO1 Polymorphism in Primary and Therapy-Related Myeloid Leukemia. Frequency of ...
http://bloodjournal.org/content/94/2/803.full?sso-checked=true
*  JCVI: Lack of association between TLR4 Asp299Gly polymorphism and atherosclerosis: evidence from met
... a-analysis. Home. About. Research. Sustainable Lab. Publications. Education. Giving. Press. Careers. Contact. Listing. About. . Publications. Citation. Zhang K, Zhang L, Zhou B, Wang Y, Song Y, Rao L. Lack of association between TLR4 Asp299Gly polymorphism and atherosclerosis: evidence from meta-analysis. Thrombosis research. 2012 Aug 01;. External Citation. Abstract. INTRODUCTION: Toll like receptor 4 TLR4 expression was found to increase markedly in human atherosclerotic lesions, notably on macrophages and endothelial cells. TLR4 Asp299Gly polymorphism was associated with a blunted receptor activity and a subsequently diminished inflammatory response, and may subsequently reduce atherosclerosis AS risk. However, the results of molecular epidemiological studies remained inconsistent. MATERIALS AND METHODS: The PubMed, CNKI databases were searched for all articles available. The OR corresponding to the 95% confidence interval 95% CI was used to assess the association between TLR4 Asp299Gly polymorphism ...
http://jcvi.org/cms/publications/listing/abstract/article/lack-of-association-between-tlr4-asp299gly-polymorphism-and-atherosclerosis-evidence-from-meta-anal/
*  Java polymorphism question - Stack Overflow
... Stack Overflow. Meta Stack Overflow. Stack Overflow Careers. stack overflow careers. Stack Overflow Questions. Java polymorphism question. abstract class A { abstract void a1 ; void a2 { } } class B extends A { void a1 { } void a2 { } } class C extends B { void c1 { } } and: A x = new B ; C y = new C ; A z = new C ; What are four valid examples of polymorphic method calls. java polymorphism scjp share. improve this question. add a comment. Answer C won't compile method isn't defined in the declared class. improve this answer. answered Dec 24 '09 at 23:58. add a comment. up vote 8 down vote. Polymorphism is simply defined as when the reference type and object type are different. The reference type of anim Animal is different than its object type Dog so anim is a polymorphic reference. Dynamic binding means that the method that actually runs is the method that is farthest down the class hierarchy between the reference type and object type. Being able to have the method that runs depend on the object type ...
http://stackoverflow.com/questions/1960091/java-polymorphism-question
*  TRAF1 Gene Polymorphism Correlates with the Titre of Gp210 Antibody in Patients with Primary Biliary
traf gene polymorphism correlates with the titre of gp antibody in patients with primary biliary cirrhosis table table autoantibody titers in patients subgrouped according to rs traf polymorphism autoantibodies genotype cc genotype tt ama gp sp actin centromere chromatin rfigg ccp scl jo rna poliii ro
http://hindawi.com/journals/jir/2012/487521/tab5/
*  Gene polymorphism
... thumb right genes which control hair colour are polymorphic a gene is said to be polymorphic if more than one allele occupies that gene s locus within a population http www biology online org dictionary genetic polymorphism a polymorphic variant of a gene may lead to the abnormal expression or to the production of an abnormal form of the gene this may cause or be associated with disease for example a polymorphic variant of the enzyme cyp a in which thymidine replaces cytosine at the gene s nucleotide position encodes a cyp a protein that substitutes phenylalanine with serine at the protein s amino acid position this variant protein has reduced enzyme activity in metabolizing arachidonic acid to the blood pressure regulating eicosanoid hydroxyeicosatetraenoic acid humans bearing this variant in one or both of their cyp a genes have an increased incidence of hypertension ischemic stroke and coronary artery disease cardiol rev jan feb doi crd b e review examples of polymorphic genes drd ankk comt maoa cyp ...
https://en.wikipedia.org/wiki/Gene_polymorphism
*  Rs28363170
rs rs in genetics rs dat vntr is a genetic variation at slc a the gene that encodes the dopamine transporter it is polymorphism as a base pairs vntr in the untranslated region it is an deletion insertion polymorphism dip http www ncbi nlm nih gov snp snp ref cgi rs rs the repeat and the repeat are the most common alleles references further category genetic polymorphisms
https://en.wikipedia.org/wiki/Rs28363170
*  Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic as
... sociation study. Partnerships Philanthropy Careers Contact Us. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. News & Publications:Scientific Publications Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study. Read More / View Supplemental Materials Linking RNA biology to lncRNAs. Read More / View Supplemental Materials Ethanol Enhances TGF-β Activity by Recruiting TGF-β Receptors from Intracellular Vesicles/Lipid Rafts/Caveolae to Non-lipid Raft Microdomains. Read More / View Supplemental Materials American Diabetes Association and JDRF Research Symposium: Diabetes and the Microbiome. Read More / View Supplemental Materials. Scientific ...
https://broadinstitute.org/publications/broad3337
*  Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: No association with Graves' dise
Use of Tag single nucleotide polymorphisms SNPs to screen PTPN21: No association with Graves' disease - ResearchGate. Article Use of Tag single nucleotide polymorphisms SNPs to screen PTPN21: No association with Graves' disease. Impact Factor: 3.46. ABSTRACT The protein-tyrosine-phosphate nonreceptor 22 gene PTPN22 has recently been identified as a susceptibility locus for a number of autoimmune diseases including Graves' disease GD. The aim of this study was to determine whether PTPN21 is acting as a GD susceptibility locus in UK Caucasian subjects. A case control association study of seven Tag single nucleotide polymorphisms SNPs rs1469602, rs8007288, rs1998670, rs11622270, rs2274736, rs2295136 and rs366476 selected to predict 51 un-genotyped polymorphisms present within PTPN21. No association of any of the seven Tag SNPs was detected with GD. Preliminary evidence of association of rs2274736 was found with younger age of GD onset 0-30 years OR = 1. Using a Tag SNP approach we screened PTPN21 as ...
http://researchgate.net/publication/6869124_Use_of_Tag_single_nucleotide_polymorphisms_(SNPs)_to_screen_PTPN21_no_association_with_Graves'_disease
*  Unbound MEDLINE : An association study of single nucleotide polymorphisms of the FOXP3 intron-1 and
... the risk of Psoriasis vulgari. Genetic Predisposition to Disease. An association study of single Unbound MEDLINE. An association study of single nucleotide polymorphisms of the FOXP3 intron-1 and the risk of Psoriasis vulgaris. To elucidate the association between the FOXP3 gene and the risk of PV, 408 patients diagnosed with PV and 363 age and sex-matched healthy controls from a cohort of the Chinese majority Han population were recruited. Four single nucleotide polymorphisms rs2232365, rs3761547, rs3761548 and rs3761549 of the FOXP3 gene were analyzed using the polymerase chain reaction and ligase detection reaction. The major allele of three single nucleotide polymorphisms SNPs - rs2232365 A, rs3761547 A and rs3761549 C were associated with an increased risk of PV in a clinical subgroup of female patients, who were less than 40 yrs of age, had a family history of the disease and did not have disease complications p 0.05 for all parameters. Therefore, the FOXP3 polymorphisms appear to contribute to ...
http://unboundmedicine.com/medline/citation/22435141/abstract/An_association_study_of_single_nucleotide_polymorphisms_of_the_FOXP3_intron_1_and_the_risk_of_Psoriasis_vulgaris_
*  WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute m
... yeloid leukemia in a Chinese population - ResearchGate. For full functionality of ResearchGate it is necessary to enable JavaScript. Here are the instructions how to enable JavaScript in your web browser. Article WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute myeloid leukemia in a Chinese population. Xi Chen. Xi Chen. Remove suggestion. Yongchen Yang. Yongchen Yang Fudan University Message author. Remove suggestion. Yi Huang. Yi Huang. Remove suggestion. Junjie Tan. Junjie Tan. Remove suggestion. Yuanyuan Chen. Yuanyuan Chen. Remove suggestion. Jing Yang. Jing Yang. Remove suggestion. Center for Clinical Molecular Medicine, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital, Chongqing Medical University, Chongqing, China. Leukemia lymphoma. Impact Factor: 2.89. ...
http://researchgate.net/publication/224050693_WT1_mutations_and_single_nucleotide_polymorphism_rs16754_analysis_of_patients_with_pediatric_acute_myeloid_leukemia_in_a_Chinese_population
*  Identification of TRIM22 single nucleotide polymorphisms ass... : AIDS
Identification of TRIM22 single nucleotide polymorphisms ass... Enter your Email address:. Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining your privacy and will not share your personal information without your express consent. AIDS Wolters Kluwer Health Logo. Identification of TRIM22 single nucleotide polymorphisms ass... Identification of TRIM22 single nucleotide polymorphisms associated with loss of inhibition of HIV-1 transcription and advanced HIV-1 disease Ghezzi, Silvia a ; Galli, Laura b ; Kajaste-Rudnitski, Anna a ; Turrini, Filippo a ; Marelli, Sara a ; Toniolo, Daniela c ; Casoli, Claudio d,e ; Riva, Agostino d ; Poli, Guido f,g ; Castagna, Antonella b ; Vicenzi, Elisa a. Objective s : Tripartite motif-containing 22 TRIM22 is an interferon-induced protein that inhibits HIV-1 transcription and replication in vitro. Two single nucleotide missense polymorphisms rs7935564A/G SNP-1 and rs1063303C/G SNP-2 characterize the coding sequence of human ...
http://journals.lww.com/aidsonline/Abstract/2013/09240/Identification_of_TRIM22_single_nucleotide.2.aspx
*  RePub, Erasmus University Repository: Evaluation of functional single nucleotide polym
... orphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis. Erasmus Research Institute of Management ERIM. Rotterdam School of Management RSM. Erasmus MC: University Medical Center Rotterdam. Erasmus School of Law. International Institute of Social Studies ISS. Erasmus MC: University Medical Center Rotterdam /. Human Immunology /. Evaluation of functional single nucleotide polymorphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis Human Immunology, Volume 69 - Issue 2 p. TCRαβ+/CD4+T-large granular lymphocyte LGL lymphocytosis is a subgroup of monoclonal T-LGL lymphoproliferative disorders that are different from the CD8+TCRαβT-LGL. Overall, 38 patients with CD4+T-LGL were analyzed and compared with a group of both CD8+/TCRαβ+T-LGL patients n = 43 and a group of control subjects n = 176. Our results did not show any clear association between ...
http://repub.eur.nl/pub/29361/
*  ORBi: D'Onofrio Mara - The interplay of two single nucleotide polymorphisms in the CACNA1A gene may
... contribute to migraine susceptibility. Reference : The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribu... To cite this reference: http://hdl.handle.net/2268/23519. Title : The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. Author, co-author : D'Onofrio, Mara. Keywords : Calcium Channels/genetics ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Male ; Migraine with Aura/genetics ; Polymorphism, Single Nucleotide. BM and HM may thus share common genetic features. In the present study, two single nucleotide polymorphisms SNPs of the CACNA1A gene were characterized in a population of migraine patients and healthy controls. The polymorphisms, E918D, predicting a glutamic acid-to-aspartic acid substitution at codon 918 and E993V, predicting a glutamic acid-to-valine substitution at codon 993, were frequently detected among patients and controls. Seven BM, 10 SHM, ...
http://orbi.ulg.ac.be/handle/2268/23519
*  ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis
... of β-thalassaemia : Clinical Chemistry and Laboratory Medicine. Multi-Volume Works. Clinical Chemistry and Laboratory Medicine CCLM. Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine EFLM. 12 Issues per year. IMPACT FACTOR 2014: 2.707 Rank 6 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition SCImago Journal Rank SJR 2014: 0.741 Source Normalized Impact per Paper SNIP 2014: 1.011 Impact per Publication IPP 2014: 2.310. Issue Journal/Yearbook. Volume. Issue. Issues. Volume 53 2015. Issue 10 Sep 2015, pp. 1481-1653 Issue 9 Aug 2015, pp. Issue 8 Jul 2015, pp. 1127-1296 Issue s1 Jun 2015. Issue 7 Jun 2015, pp. 959-1125 Issue 6 May 2015, pp. 829-958 Special issue: 1st EFL... Issue 5 Apr 2015, pp. Congress of Clinical Chemistry and Laboratory Medicine / 10th Annual Meeting of the German Society for Clinical Chemistry and Laboratory Medicine DGKL, Dresden, Germany, 23rd–26th October, 2013*. ...
http://degruyter.com/dg/viewarticle/j$002fcclm.2010.48.issue-12$002fcclm.2010.331$002fcclm.2010.331.xml
*  A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitiz
... ation and their interaction with birth order - ResearchGate. Article A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. We sought to identify common genetic variant associations with prevalent AR and grass sensitization using existing genome-wide association study GWAS data and to determine whether genetic variants modify the protective effect of older siblings. This relatively large meta-analysis of GWASs identified few loci associated with AR and grass sensitization. Among the 17 loci previously identified by GWAS as associated with allergic rhinitis, four were associated with allergic rhinitis with P value ≤ 0.05 in our study Additional file 8: Table S3. Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. 6 of the 22 GWAS loci with P-value ≤ 1x10−6 tagged one particular coexpression module 4.0-fold ...
http://researchgate.net/publication/51755456_A_genome-wide_meta-analysis_of_genetic_variants_associated_with_allergic_rhinitis_and_grass_sensitization_and_their_interaction_with_birth_order
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Chromosome. Text Cloud for Tissue Expression. Text Cloud for GO Term. cGMP binding 1. integral to plasma membrane 1. intracellular cGMP activated cation channel activity 1. ion channel activity 1. nucleotide binding 1. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for OMIM Term. Achromatopsia-3, 1. Text Cloud for GAD Term. achromatopsia 1. cGMP binding integral to plasma membrane intracellular cGMP activated ...
http://pfs.nus.edu.sg/(S(3btkptgjenrz22bc2uqgbxhj))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=54714
*  Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear F
... amilies. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. ; Liu, Kuang-Yu Note: Order does not necessarily reflect citation order of authors. Linkage and association analyses of microsatellites and single-nucleotide polymorphisms in nuclear families. Several simulation studies have suggested that a high-density single-nucleotide polymorphisms SNPs marker set may be as useful as a traditional microsatellites MS marker set in performing whole-genome linkage analysis. In the present study, we compared the linkage results from the SNPs-based scan with a map density of 3-cM spacing with those from the MS scan using a 10-cM marker set among 300 nuclear families each from the Aipotu AI, Danacaa DA, and Karangar KA populations from the ...
http://dash.harvard.edu/handle/1/4734538
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression. Brain 1. SuperiorCervicalGanglion 1. UterusCorpus 1. Text Cloud for GO Term KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway OMIM. Text Cloud for GAD Term. View SNP in this gene C4orf30 FLJ20280 MGC126765 MGC126767. Adipocyte AdrenalCortex Appendix Blood Leukemia Bonemarrow Brain Colon FetalBrain FetalLiver FetalLung FetalThyroid HBEC Heart Kidney Liver Lung LymphNode ...
http://pfs.nus.edu.sg/(S(jtzqqndbf1e1dgytlsvh4ylb))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=54876
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression GO Term. Text Cloud for GO Term. protein amino acid dephosphorylation 1. protein tyrosine phosphatase activity 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. HSC HSCANDPROGENITORS ADULT 1. HSC HSCANDPROGENITORS FETAL 1. HSC HSCANDPROGENITORS SHARED 1. Text Cloud for OMIM Term GAD. Text Cloud for GAD Term. View SNP in this gene PTPN20A MGC142033 bA142I17.1. ...
http://pfs.nus.edu.sg/(S(2ak4vbznkj2jwhwqo40tonpo))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=653129
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression. Brain 1. SkeletalMusclePsoas 1. SpinalCord 1. SuperiorCervicalGanglion 1. Text Cloud for GO Term. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. Text Cloud for OMIM Term. Text Cloud for GAD Term. View SNP in this gene RPGRIP1 CORD9 DKFZp686P0897 LCA6 RGI1 RGRIP RPGRIP RPGRIP1d. Adipocyte AdrenalCortex Blood Leukemia Bonemarrow Brain Colon FetalBrain FetalLiver FetalLung ...
http://pfs.nus.edu.sg/(S(ytusuuxh5jtqa3vbnskslf20))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=57096
*  PMID:18594024
PUBLICATIONS. FEEDBACK. SIGN IN. Pharmacogenomics. Overview. SAB. History. CPIC. CPIC. Genes/Drugs. Alleles. Members. Search. Search. Genes. Drugs. Diseases. Pathways. Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis by Sarasquete Maria E, García-Sanz Ramon, Marín Luis, Alcoceba Miguel, Chillón Maria C, Balanzategui Ana, Santamaria Carlos, Rosiñol Laura, de la Rubia Javier, Hernandez Miguel T, Garcia-Navarro Inmaculada, Lahuerta Juan J, González Marcos, San Miguel Jesus F in Blood 2008. We have explored the potential role of genetics in the development of osteonecrosis of the jaw ONJ in multiple myeloma MM patients under bisphosphonate therapy. A genome-wide association study was performed using 500 568 single nucleotide polymorphisms SNPs in 2 series of homogeneously treated MM patients, one with ONJ 22 MM cases and another without ONJ 65 matched MM controls. Four SNPs ...
https://pharmgkb.org/pmid/18594024
*  Single Nucleotide Polymorphism - SNPedia
... Toggle navigation. SNPedia. Visit https://www.reddit.com/r/SNPedia. Single Nucleotide Polymorphism From SNPedia Redirected from SNP Jump to: navigation , search. A Single Nucleotide Polymorphism is also known as a SNP or snp pronounced 'snip'. The importance of SNPs comes from their ability to influence disease risk, drug efficacy and side-effects, tell you about your ancestry, and predict aspects of how you look and even act. SNPs are probably the most important category of genetic changes influencing common diseases. And in terms of common diseases, 9 of the top 10 leading causes of death have a genetic component and thus most likely one or more SNPs influence your risk. DNA SNPs Genetics 101 Part 2: What are SNPs. But at certain locations there are differences - these variations are called polymorphisms. Polymorphisms are what make individuals different from one another. While many variations SNPs are known, most have no known effect and may be of little or no importance. The emphasis in SNPedia is ...
http://snpedia.com/index.php/SNP
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 6 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Bonemarrow 1. Colon 1. HBEC 1. Prostate 1. Salivarygland 1. SuperiorCervicalGanglion 1. T cells 1. Thymus 1. Tonsil 1. UterusCorpus 1. GO Term. Text Cloud for GO Term KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. HADDAD HPCLYMPHO ENRICHED 1. HADDAD HSC CD10 UP 1. HASLINGER ...
http://pfs.nus.edu.sg/(S(moxkwigjrxtyc3p2vcfit4rp))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=8346
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 22 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Liver 1. Lung 1. LymphNode 1. Pancreas 1. Prostate 1. SmoothMuscle 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tonsil 1. Trachea 1. UterusCorpus 1. WholeBlood JJV 1. GO Term. Text Cloud for GO Term. hydrolase activity 1. membrane 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported ...
http://pfs.nus.edu.sg/(S(jcj2vq41rcsjr1d15smekd51))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=23753
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 10 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. HBEC 1. Heart 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Pancreas 1. Prostate 1. SmoothMuscle 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1. TrigeminalGanglion 1. UterusCorpus 1. WholeBlood JJV 1. GO Term. Text Cloud for GO Term. intracellular 1. mRNA processing 1. ...
http://pfs.nus.edu.sg/(S(gqsakss4maalmhat2pj4tawv))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=84991
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 15 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. SuperiorCervicalGanglion 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil ...
http://pfs.nus.edu.sg/(S(ihuxckvolbc3hwcfbufjvnwp))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=9990
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 19 1. Tissue Expression. Text Cloud for Tissue Expression. Brain 1. FetalBrain 1. SpinalCord 1. GO Term. Text Cloud for GO Term. beta-catenin binding 1. catenin complex 1. microtubule binding 1. protein binding 1. protein complex assembly 1. regulation of progression through cell cycle 1. signal transduction 1. Wnt receptor signaling pathway 1. KEGG Path. Text Cloud for KEGG Path. Basal cell carcinoma 1. Colorectal cancer 1. Endometrial cancer 1. Regulation of ...
http://pfs.nus.edu.sg/(S(0fjsxff4khsrcdzd14moyyzt))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=10297
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 2 1. Tissue Expression. Text Cloud for Tissue Expression. FetalLiver 1. FetalLung 1. FetalThyroid 1. Lung 1. Thyroid 1. GO Term. Text Cloud for GO Term. extracellular space 1. lipid metabolic process 1. lysosome 1. organ morphogenesis 1. proteinaceous extracellular matrix 1. regulation of liquid surface tension 1. respiratory gaseous exchange 1. sphingolipid metabolic process 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for ...
http://pfs.nus.edu.sg/(S(vmz0xnpiclru1a0uaelhz4yg))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=6439
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 4 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Brain 1. Colon 1. FetalBrain 1. FetalLung 1. FetalThyroid 1. Heart 1. Kidney 1. Lung 1. LymphNode/Spleen 1. Nose/Brain 1. Pancreas 1. Prostate 1. SkeletalMusclePsoas 1. SmoothMuscle 1. SpinalCord 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. GO Term. Text Cloud for GO Term. adenine transmembrane transporter activity 1. binding 1. generation of precursor metabolites and energy 1. ...
http://pfs.nus.edu.sg/(S(1ffdk1u5fgtkcwbrpjyk5naq))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=291
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 14 1. Tissue Expression. Text Cloud for Tissue Expression GO Term. Text Cloud for GO Term. embryonic skeletal morphogenesis 1. epithelial cell differentiation 1. inner ear morphogenesis 1. myoblast migration 1. nucleus 1. pattern specification process 1. protein binding 1. regulation of neuron differentiation 1. regulation of transcription, DNA-dependent 1. sensory perception of sound 1. sequence-specific DNA binding 1. striated muscle development 1. thymus ...
http://pfs.nus.edu.sg/(S(otjlftbvcitznmx4ksbz5wbk))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=6495
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 12 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1. Trachea 1. ...
http://pfs.nus.edu.sg/(S(wsciynekpyl1hfophx4wctwb))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=1337
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. X 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. FetalLung 1. FetalThyroid 1. HBEC 1. Kidney 1. Lung 1. Pancreas 1. Prostate 1. Salivarygland 1. Thyroid 1. Trachea 1. GO Term. Text Cloud for GO Term. amine oxidase activity 1. behavior 1. catecholamine metabolic process 1. dopamine catabolic process 1. electron transport 1. integral to membrane 1. membrane 1. mitochondrion 1. oxidoreductase activity 1. protein binding 1. KEGG Path. Text Cloud ...
http://pfs.nus.edu.sg/(S(ucladbo0uistoaothyaffwmx))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=4128
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 22 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. SuperiorCervicalGanglion 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil ...
http://pfs.nus.edu.sg/(S(33jo1rvwerzaewzhxugnlapw))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=8398
*  BMC Genetics | Abstract | Effects of single nucleotide polymorphism marker density on degree of gene
bmc genetics abstract effects of single nucleotide polymorphism marker density on degree of genetic variance explained and genomic evaluation for carcass traits in japanese black beef cattle biomedcentral com bmcgenet article bottom top biomed central journals gateways search bmc genetics biomed central for go advanced search home articles authors reviewers about this journal my bmc genetics bmc genetics complex traits and quantitative genetics volume viewing options abstract full text pdf kb epub kb associated material pubmed record article metrics open badges readers comments related literature cited by google blog search other articles by authors on google scholar ogawa s matsuda h taniguchi y watanabe t nishimura s sugimoto y iwaisaki h on pubmed ogawa s matsuda h taniguchi y watanabe t nishimura s sugimoto y iwaisaki h related articles pages on google on google scholar on pubmed tools download references download xml order reprints post a comment download to papers mendeley download to papers mendeley ...
http://biomedcentral.com/1471-2156/15/15/abstract
*  Minnesota Supercomputing Institute - Tutorial Details: Single Nucleotide Polymorphisms (SNP) Assoc
minnesota supercomputing institute tutorial details single nucleotide polymorphisms snp associations analysis using helixtree software campuses twin cities crookston duluth morris rochester other locations university relations http www umn edu urelate myu onestop minnesota supercomputing institute log out of mymsi tutorial details single nucleotide polymorphisms snp associations analysis using helixtree software date thursday april pm pm location walter instructor s wayne xu msi single nucleotide polymorphisms snp make individuals different color susceptibility to diseases productivity etc however there are millions of snps in humans which snps are associated with particular phenotypes helixtree is a powerful software tool for studying snp association with disease or drug response it also analyzes single marker and haplotype calculates ld and hwe identifies tagging snps and more in this tutorial we will walk through this software using sample data level prerequisites genetics
https://msi.umn.edu/tutorial/302
*  BMC Genomics | Full text | Identification of genome-wide single nucleotide polymorphisms in allopoly
bmc genomics full text identification of genome wide single nucleotide polymorphisms in allopolyploid crop brassica napus biomedcentral com bmcgenomics article bottom top biomed central journals gateways search bmc genomics biomed central for go advanced search home articles authors reviewers about this journal my bmc genomics top abstract background results discussion conclusions methods competing interests authors contributions acknowledgements references bmc genomics plant genomics volume viewing options abstract full text pdf mb epub kb associated material pubmed record article metrics open badges ...
http://biomedcentral.com/1471-2164/14/717
*  Critical Care | Full text | TNFalpha promoter single nucleotide polymorphisms may influence gene exp
critical care full text tnfalpha promoter single nucleotide polymorphisms may influence gene expression in patients with severe sepsis ccforum com article cc bottom top biomed central journals gateways search critical care biomed central for go advanced search home articles authors reviewers about this journal my critical care top introduction methods results conclusion critical care volume suppl viewing options full text pdf mb associated material article metrics open badges readers comments related literature cited by google blog search other articles by authors on google scholar odwyer m white m mcmanus r ryan t related articles pages on google on google scholar tools download references download xml order reprints post a comment download to papers mendeley download to papers mendeley share this article tweet more options citeulike linkedin del icio us email
http://ccforum.com/content/11/S2/P448
*  Twelve-Single Nucleotide Polymorphism Genetic Risk Score Identifies Individuals at Increased Risk fo
... r Future Atrial Fibrillation and Stroke. Partnerships Philanthropy Careers Contact Us. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. News & Publications:Scientific Publications Twelve-Single Nucleotide Polymorphism Genetic Risk Score Identifies Individuals at Increased Risk for Future Atrial Fibrillation and Stroke. Read More / View Supplemental Materials Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Read More / View Supplemental Materials Ethanol Enhances TGF-β Activity by Recruiting TGF-β Receptors from Intracellular Vesicles/Lipid Rafts/Caveolae to Non-lipid Raft Microdomains. Read More / View Supplemental Materials American Diabetes Association and JDRF Research ...
https://broadinstitute.org/publications/broad5991
*  Association study of the single nucleotide polymorphisms in adiponectin-associated genes with type 2
... diabetes in Han Chinese - ResearchGate. For full functionality of ResearchGate it is necessary to enable JavaScript. Here are the instructions how to enable JavaScript in your web browser. Article Association study of the single nucleotide polymorphisms in adiponectin-associated genes with type 2 diabetes in Han Chinese. Yabing Wang. Yabing Wang Xuanwu hospital Message author. Remove suggestion. Di Zhang. Di Zhang. Remove suggestion. Yun Liu. Yun Liu Chinese Academy of Sciences Message author. Remove suggestion. Yifeng Yang. Yifeng Yang. Remove suggestion. Teng Zhao. Teng Zhao. Remove suggestion. Jie Xu. Jie Xu China University of Mining Technology Message author. Remove suggestion. Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China. Journal of Genetics and Genomics. Impact Factor: 3.59. 07/2009; 36 7 :417-23. DOI: 10.1016/S1673-8527 08 60131-9 Source: PubMed. ABSTRACT Single-nucleotide polymorphisms SNPs of ADIPOQ, ...
http://researchgate.net/publication/26695045_Association_study_of_the_single_nucleotide_polymorphisms_in_adiponectin-associated_genes_with_type_2_diabetes_in_Han_Chinese
*  High-resolution whole-genome association study of Parkinson disease. | ALZFORUM
High-resolution whole-genome association study of Parkinson disease. ALZFORUM. Jump to the Navigation Menu. Login to My AlzForum. Jump to the Search form. Paper. Tools Email. Share. How would you like to share. Facebook Twitter LinkedIn Back to the Top. Maraganore DM, de Andrade M, Lesnick TG, Strain KJ, Farrer MJ, Rocca WA, Pant PV, Frazer KA, Cox DR, Ballinger DG. High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet. 2005 Nov;77 5 :685-93. PubMed. Recommends Please login to recommend the paper. Comments Make a Comment Comments on this Paper Andrew Singleton National Institutes of Health. Posted: 19 Apr 2006. The publication of this first genome-wide single nucleotide polymorphism SNP association study in Parkinson disease PD has created considerable debate in the field. The most public parts of this discussion include four follow-up articles Clarimon et al., 2006; Farrer et al., 2006; Li et al., 2006; and Gorris et al., 2006 and a short introductory piece Myers, 2006, all ...
http://alzforum.org/papers/high-resolution-whole-genome-association-study-parkinson-disease
*  Genizon BioSciences Inc Licenses Crohns Disease GeneMap To Genentech Inc Results Of Whole Genome
... Association Study To Be Used To Support Development Of. Post Jobs. Jobs. Career Fairs. Company Profiles. Search Life Sciences Jobs. News by Disease. Search News. Genizon BioSciences Inc. Licenses Crohn's Disease GeneMap To Genentech, Inc. DNA ; Results Of Whole Genome Association Study To Be Used To Support Development Of New Therapeutics And Diagnostics. Genizon grants Genentech an exclusive license to Genizon's GeneMap of disease-associated genes generated from a whole genome association study of Crohn's disease patients from the Quebec Founder Population. Read at Canada NewsWire. Related News Genizon BioSciences Inc. Secures $12 Million; Company To Conduct Additional Whole-Genome Association Studies Generating Novel Drug Targets Scientists Reverse Evolution: Ancient Gene Reconstructed From Descendants Genizon BioSciences Inc. Raising Up To $17M Series C As It Prepares To Ink First Customers Researchers Identify Gene As Protector of DNA, Enemy of Tumors Genizon BioSciences Inc. Licenses Ingenuity ...
http://biospace.com/News/genizon-biosciences-inc-licenses-crohns-disease/26743
*  Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populat
... ions by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms - WestminsterResearch. . Home. About. Browse. Browse by Year. Browse by Research Community. Browse by Type. Browse by People. Browse by Full text. Advanced Search. Latest Additions. Login repository administrators only. Statistics. Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. Watkins, Nicholas A. and O'Connor, Marie N. and Rankin, A. and Jennings, Nicola S. and Wilson, E. and Harmer, Ian J. and Davies, L. and Smethurst, Peter A. and Dudbridge, F. and Farndale, Richard W. and Ouwehand, Willem H. 2006 Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. Journal of Thrombosis and ...
http://westminsterresearch.wmin.ac.uk/3172/
*  Single-nucleotide polymorphism
... s may fall within coding sequences of gene s, non-coding regions of genes, or in the intergenic region s regions between genes. SNPs within a coding sequence do not necessarily change the amino acid sequence of the protein that is produced, due to degeneracy of the genetic code. Synonymous SNPs do not affect the protein sequence while nonsynonymous SNPs change the amino acid sequence of protein. SNPs in coding region s:. missense - single change in the base results in change in amino acid of protein and its malfunction which leads to disease e.g. The ' OMIM ' database describes the association between polymorphisms and diseases e.g., gives diseases in text form The Human Gene Mutation Database provides gene mutations causing or associated with human inherited diseases and functional SNPs The International HapMap Project, where researchers are identifying Tag SNP to be able to determine the collection of haplotypes present in each subject. — Introduction to SNPs from NCBI — SNP search — "a central ...
https://en.wikipedia.org/wiki/Single-nucleotide_polymorphism
*  Polymorphisms
... Protein Polymorphisms. Single Nucleotide Polymorphisms SNPs. Copy Number Polymorphisms CNPs. How are polymorphisms useful. Genetic Drift. Natural Selection. Natural vs. Polymorphisms. Link to an example. Protein Polymorphisms. All the examples above are of the protein products of alleles. Frog #8 was homozygous for allele E. Proteins are gene products and so polymorphic versions are simply reflections of allelic differences in the gene; that is, allelic differences in DNA. Most* RFLPs are created by a change in a single nucleotide in the gene, and so these are called single nucleotide polymorphisms SNP s. Single Nucleotide Polymorphisms SNPs. Alleles whose sequence reveals only a single changed nucleotide are called single nucleotide polymorphisms or SNPs. Copy Number Polymorphisms CNPs. Humans vary in the number of copies of AMY1 in their genome. In the case of AMY1 , the more copies present, the more enzyme that is produced. How a person adapts to a change in gene number for autosomal genes is unknown ...
http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/P/Polymorphisms.html
*  gms | 27. Deutscher Krebskongress | Single-nucleotide polymorphism (SNP) of ABCB1 transporter in col
Deutscher Krebskongress. Single-nucleotide polymorphism SNP of ABCB1 transporter in colorectal cancer patients and relation to the pharmacokinetics of irinotecan. German Medical Science English. DKK 2006. ber DKK 2006. Suche in DKK 2006 bersicht. Artikel. Artikel XML Version. Single-nucleotide polymorphism SNP of ABCB1 transporter in colorectal cancer patients and relation to the pharmacokinetics of irinotecan Meeting Abstract. Suche in Medline nach Farker K. Merkel U. Wedding U. Hippius M. Hoffmann A. Katrin Farker - Institut für Klinische Pharmakologie, Universitätsklinikum Jena, Deutschland. Ute Merkel - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Ulrich Wedding - Klinik für Innere Medizin II, Universitätsklinikum Jena. Marion Hippius - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Klaus Höffken - Klinik für Innere Medizin II, Universitätsklinikum Jena. Annemarie Hoffmann - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Deutscher Krebskongress. ...
http://egms.de/static/de/meetings/dkk2006/06dkk339.shtml
*  harbors genetic polymorphisms: Topics by Science.gov
Microsoft Academic Search. Microsoft Academic Search. Microsoft Academic Search. PubMed. We performed Key Words searches in the public databases PubMed, Medscape, and Rxlisty, Pharm GKB for genetic polymorphisms and the NCBI website for the nomenclature of alleles of CYP450, finding that CYP2D6, CYP2C9, CYP3A4, and CYP2D19 were involved in the metabolism of most antiepileptic drugs, given the allele frequency in the population and the associated variability in the clinical response. PMID:24896213. PubMed. PMID:23543093. Microsoft Academic Search. Microsoft Academic Search. PubMed. Significant associations were observed within the genotype frequencies, allele frequencies, and multi-single-nucleotide polymorphism SNP haplotype analysis of most polymorphisms studied. Most current genetic association studies, including genome-wide association studies, look for the single nucleotide polymorphisms SNPs with a relatively large minor allele frequency MAF e.g. Although the CDCV hypothesis has become the dogma ...
http://science.gov/topicpages/h/harbors genetic polymorphisms.html
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. SkeletalMusclePsoas 1. cytoskeleton 1. regulation of striated muscle contraction 1. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. BRENTANI CYTOSKELETON 1. HSA04810 REGULATION OF ACTIN CYTOSKELETON 1. RAC1PATHWAY 1. SMOOTH MUSCLE CONTRACTION 1. STRIATED MUSCLE CONTRACTION 1. calcium ion binding cytoskeleton motor activity myosin complex protein binding regulation of striated muscle contraction structural constituent of muscle. AGED RHESUS UP ALKPATHWAY BRENTANI CYTOSKELETON CCR3PATHWAY ECMPATHWAY HSA04510 FOCAL ADHESION HSA04530 TIGHT JUNCTION HSA04670 LEUKOCYTE TRANSENDOTHELIAL MIGRATION HSA04810 REGULATION OF ACTIN CYTOSKELETON INOS ALL DN MCALPAINPATHWAY METASTASIS ADENOCARC DN ...
http://pfs.nus.edu.sg/(S(xewinxqv3trxth14o3zk0jvx))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=4633
*  Undergraduate Research Program at Dordt College
Human Resources. Directly connecting human disease etiology with rare variant test performance One of the most active areas in statistical genetics is the development of new rare variant tests of association. In reality, rare variant genotypes from next generation sequencing, SNP chip, and imputed data will all contain genotyping errors and the gene-based tests must be robust to accommodate imperfect data. Errors in SNP genotyping are already known to dramatically impact statistical power for single marker tests on common variants Gordon and Finch, 2005; Kang et al. We will work to utilize the rare variant genotype error models from sequencing calls and imputation to precisely quantify the impact of study design variables affecting genotype accuracy on rare variant tests. 2007 : The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies. Basu S., Pan W.: Comparison of statistical tests for disease association with rare ...
http://dordt.edu/academics/programs/math/statgen/projects.shtml
*  Publications Search
... Contact Us. Search. Discovering the causes of cancer and the means of prevention. DCEG Home. About DCEG. Contact DCEG. What We Study. Who We Study. How We Study. Public Health Impact of DCEG Research. Training Resources for Fellows and Staff. Tools Resources. Study Design/Planning Tools. News Events. Publications Search - Abstract View. Common single nucleotide polymorphisms in genes related to immune function and risk of papillary thyroid cancer. PMC3592848. Accumulating evidence suggests that alterations in immune function may be important in the etiology of papillary thyroid cancer PTC. To identify genetic markers in immune-related pathways, we evaluated 3,985 tag single nucleotide polymorphisms SNPs in 230 candidate gene regions adhesion-extravasation-migration, arachidonic acid metabolism/eicosanoid signaling, complement and coagulation cascade, cytokine signaling, innate pathogen detection and antimicrobials, leukocyte signaling, TNF/NF-kB pathway or other in a case-control study of 344 PTC cases ...
http://dceg2.cancer.gov/cgi-bin-pubsearch/pubsearch/abstract.pl?id=3724
*  Comprehensive functional annotation of 77 prostate cancer risk Loci. | Broad Institute of MIT and Ha
Comprehensive functional annotation of 77 prostate cancer risk Loci. Broad Institute of MIT and Harvard. Partnerships Philanthropy Careers Contact Us. What is Broad. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. Home. News & Publications:Scientific Publications Comprehensive functional annotation of 77 prostate cancer risk Loci. Recent Broad Publications A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Read More / View Supplemental Materials An integrated map of structural variation in 2,504 human genomes. Read More / View Supplemental Materials Somatic mutation in single human neurons tracks developmental and transcriptional ...
http://broadinstitute.org/publications/broad5503
*  Division of Cancer Control & Population Sciences - Grant Details
Funding Opportunities. Apply for Cancer Control Grants. Reports + Data. Reports About DCCPS. DCCPS Public Data Sets Analyses. Project Title: Genome Wide Association Study of Head and Neck Cancer. Therefore, head and neck cancers are an excellent model for studying genetic susceptibility to environmental carcinogens. The primary goal of this R01 application is to perform a comprehensive two-stage, high-density, genome-wide single-nucleotide polymorphism SNP analysis of head and neck cancer cases and corresponding frequency matched controls to identify novel genetic risk factors for head and neck cancer. One of the unique features of our study is the availability of DNA repair assay data on most of the cases and controls in this study, which will allow us to conduct genotype/phenotype analyses. In aim 1, we will perform genotyping on 1000 randomly selected head and neck cancer cases and 500 controls using a 370K Illumina Infinium HapMap HumanCNV370-Duo SNP Chip. We will perform association analyses 1000 ...
http://maps.cancer.gov/overview/DCCPSGrants/abstract.jsp?applId=8434277&term=CA131324
*  A common genetic variant is associated with adult and childhood obesity.
... Document Detail. A common genetic variant is associated with adult and childhood obesity. MedLine Citation:. PMID: 16614226 Owner: NLM Status: MEDLINE. We used a dense whole-genome scan of DNA samples from the Framingham Heart Study participants to identify a common genetic variant near the INSIG2 gene associated with obesity. We have replicated the finding in four separate samples composed of individuals of Western European ancestry, African Americans, and children. Our study suggests that common genetic polymorphisms are important determinants of obesity. 10818406 - The genetics of obesity. Publication Detail:. Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Journal Detail:. Medline Journal Info:. Department of Genetics and Genomics, Boston University Medical School, E613, 715 Albany Street, Boston, MA 02118, USA. Adult African Americans Alleles Body Mass Index* Case-Control Studies Child Cohort Studies Europe European Continental Ancestry Group Female Gene ...
http://biomedsearch.com/nih/common-genetic-variant-associated-with/16614226.html
*  Phys.org - nucleotide
... News tagged with nucleotide. 1 day. 1 week. 1 month. 1 week. 1 month. Last day. 1 week. 1 month. DNA sequencing improved by slowing down. EPFL scientists have developed a method that improves the accuracy of DNA sequencing up to a thousand times. The method, which uses nanopores to read individual nucleotides, paves the way for better - and cheaper - DNA sequencing. Sep 21, 2015 in Bio & Medicine. MINAMOTO Toshifumi Project Assistant Professor, Graduate School of Human Development and Environment, Kobe University, Dr. Sep 07, 2015 in Ecology. Jun 22, 2015 in Biotechnology. The DNA encoding all life on Earth is made of four building blocks called nucleotides, commonly known as "letters," that line up in pairs and twist into a double helix. May 27, 2015 in Biochemistry. Researchers find possible universal code of protein structure. Apr 23, 2015 in Biotechnology. Using powerful advances in imaging technology, researchers at Yale University have visualized a key component deep within the ribosome, the tiny ...
http://phys.org/tags/nucleotide/
*  PMID:19724244
FEEDBACK. SIGN IN. CPIC. CPIC. Genes/Drugs. Search. Search. Genes. Help. Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients by Laje Gonzalo, Allen Andrew S, Akula Nirmala, Manji Husseini, John Rush A, McMahon Francis J in Pharmacogenetics and genomics 2009. We have described earlier the association between treatment-emergent suicidal ideation TESI and markers in genes encoding glutamate receptor subunits GRIK2 and GRIA3. The present genome-wide association study was conducted to identify additional genetic markers associated with TESI that may help identify individuals at high risk who may benefit from closer monitoring, alternative treatments, and/or specialty care. DNA samples from 90 White participants who developed TESI and a sex-matched and race-matched equal number of treated participants who denied any suicidal ideas were genotyped with 109 365 single nucleotide polymorphisms on the Illumina's Human-1 BeadChip. RESULTS: One marker ...
https://pharmgkb.org/pmid/19724244
*  WGAViewer
... 'WGAViewer'. 1 is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study GWAS. Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium LD with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP. Introduction Functions. Authors. Applications References External links. Introduction. WGAViewer currently offers several classes of annotation of the GWAS results:. zooming in/out searching for gene/SNP top hits sorting with individual SNP annotation. align results with the latest genome build gene/transcripts context. 2 linkage disequilibrium context. 3 Annotation for SNPs :. LD score for all HapMap SNPs in specified region association with specified gene expression. 4 Gene/SNP finding ...
https://en.wikipedia.org/wiki/WGAViewer
*  Polymorphisms in the interleukin-7 receptor α gene and morta... : AIDS
Polymorphisms in the interleukin-7 receptor α gene and morta... Enter your Email address:. Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining your privacy and will not share your personal information without your express consent. AIDS Wolters Kluwer Health Logo. Top Cited Articles. Polymorphisms in the interleukin-7 receptor α gene and morta... Polymorphisms in the interleukin-7 receptor α gene and mortality in untreated HIV-infected individuals Hartling, Hans J. Objectives: Recently, polymorphisms in the gene encoding the interleukin-7 receptor α IL7Rα have been shown to influence the CD4 cell count in HIV-infected individuals. The objective of this study was to examine the impact of 10 single nucleotide polymorphisms SNPs in or in close proximity to the IL7Rα on mortality among 152 untreated HIV infected in a Zimbabwean cohort. Conclusion: The results suggest an association between the IL7Rα, rs6897932, T-allele and increased mortality among untreated ...
http://journals.lww.com/aidsonline/Abstract/2013/06190/Polymorphisms_in_the_interleukin_7_receptor___gene.10.aspx
*  Functional element SNPs database
... The 'Functional Element SNPs Database' 'FESD' is a biological database of SNPs in Molecular biology. The database defines functional elements into ten types: promoter regions, CpG islands, 5' untranslated regions 5'-UTRs, translation start sites, splice site s, coding exons, introns, translation stop sites, polyadenylation signals, and 3' UTRs. "FESD: A Functional Element Snps Database In Human." Nucleic Acids Research 33.DATABASE ISS. You select SNps based on disease, gene, or factor. Researchers used Functional analysis, Linkage disequilibrium mapping,SNP markers, and the HapMap database. FESD Version II may have been used since it has the information from HapMap as well as other databases. The ITIH3-HA complex has been reported to be involved in inflammatory diseases, including rheumatoid arthritis and inflammatory bowel diseases. The researchers hypothesized that this synonymous SNP affected the transcriptional regulation, because several papers reported that some transcriptional factors bound to ...
https://en.wikipedia.org/wiki/Functional_element_SNPs_database
*  ssSNPTarget
... s s SNPTarget : Genome-Wide Splice-Site Single Nucleotide Polymorphism Database. Home Search Supplementary Guides Statistics Contact us. About this database. How does Single Nucleotide Polymorphism SNP in splice sites effect splicing process. In humans, more than 90% of genes undergo an alternative splicing to generate different mRNAs and proteins mediated by alternative splicing sites. Recent deep sequencing study with human transcripts shows that most human genes up to 94% undergo alternative splicing Wang, et al., 2008. The choice of splice sites at the exon/intron boundaries is controlled by splicing factors and regulatory sequences in transcripts Black 2003; Black, D. L 2003. Single Nucleotide Polymorphisms SNPs in splice sites can influence the splicing process. Therefore, SNPs in splice sites ssSNPs can be directly related to exon configuration. They can also produce or allow new splice sites, cryptic splice sites, that resemble authentic splice sites but cause incorrect sequences to be included ...
http://variome.kobic.re.kr/ssSNPTarget/
*  Applied Biosystems by Life Technologies
... Applied Biosystems. by Life Technologies. All Categories. All Categories. Gene Specific Assays. Applications Technologies. Support. All Categories Search. Search. Store Log In. Hello, Jane Smith. Hello, Jane Smith. Store Log In. Contact Information. United States. TaqMan Assays. DNA Sequencing by Capillary Electrophoresis. DNA / RNA Detection, Labeling Synthesis. DNA / RNA Purification. Gene Expression. Genotyping. Next-Generation Sequencing. PCR. Protein Research. Real-Time PCR. Semiconductor Sequencing. Services. siRNA, miRNA Non-Coding RNA. What s New: New Products. Assay Searches: Silencer siRNA. Custom TaqMan Array. TaqMan Gene Expression Assays. TaqMan MicroRNA Assays. TaqMan Copy Number Assays. TaqMan SNP Genotyping Assays. TaqMan Protein Assays. Applications Technologies. Services. Support. My Baskets/Orders. View My Basket. Previous Slide Next Slide. Get great deals on the latest life science technology TaqMan Gene Expression Assays, Single Tube TaqMan SNP Genotyping Assays, Single Tube. TaqMan ...
http://appliedbiosystems.com/absite/us/en/home.html
*  Gene expression analysis based on imputed genotype
... search liming s website main csg home liming liang home software genome asthma eqtl eqtl imputation repeated measures genetic matching mqls gene expression analysis based on imputed genotypes gene expression in lymphoblastoid cell lines was characterized in a sample of siblings using affymetrix hg u plus chips among these individuals were also genotyped at snps using the illumina humanhap arrays with additional genotypes for snps in the phase ii hapmap filled in using imputation this website provides a browseable summary of association analysis results p value the results summarize the additive association between each snp and transcripts with estimated heritability in the sample you can browse the results by gene probeset id by chromosomal position or by snp name please use these web browsers internetexplorer firefox or opera comments and suggestions are appreciated please email me ...
http://csg.sph.umich.edu/liang/imputation/
*  Human Chromosome 21 SNP Database
human chromosome snp database university of geneva human chromosome csnp database and map swiss institute of bioinformatics a joint project between the division of medical genetics of the university of geneva medical school and the swiss institute of bioinformatics chromosome is the smallest human chromosome the long arm of which comprises mb of dna sequence the completion of its nucleotide sequence revealed genes it is associated with a number of human pathologies such as down syndrome as well as several monogenic and complex genetic disorders here we present a comprehensive csnp single nucleotide polymorphisms within cdna sequences database and map which was generated using a combination of bioinformatics and experimental approaches see methods using the complete dna sequence and the large amount of ests present in the public databases the csnps will undoubtedly become important tools in genetic epidemiology studies for the dissection of complex disorders gene table map blast search text search methods ...
http://csnp.unige.ch/
*  Clipse Release New Single | Sputnikmusic
Clipse Release New Single. Sputnikmusic. reviews. charts. news. lists community blog. login browse genres. new releases staff reviews. best new music. Clipse Release New Single 2009-07-30 by. illmitch. 6 Comments. Clipse have released a new single from their forthcoming album, Till the Casket Drops, which can be heard here:. http://www.hiphopdx.com/index/audio/id.8311/title.clipse-f-keri-hilson-pharrell-all-eyes-on-me-final-version. This is the third single released so far, along with "Kinda Like A Big Deal ft. Kanye West " and "I'm Good ft. Pharrell ". Tagged: Clipse. Tweet. Comments: Add a Comment. illmitch July 30th 2009 5465 Comments. beat is ridiculously dope. klap Staff Reviewer July 30th 2009 11017 Comments. yesssss. theacademy Staff Reviewer July 30th 2009 29205 Comments. cHEA. Iluvatar Emeritus July 31st 2009 16089 Comments. song is dope as fuck. Infernis July 31st 2009 398 Comments. This. scyther July 31st 2009 1606 Comments. Nice. Add a Comment:. You have to be logged in to post a comment. Login. ...
http://sputnikmusic.com/news/10077/Clipse-Release-New-Single/
*  Project: Prenatal and neonatal biologic markers for autism
... Projects Home Project Detail. Prenatal and neonatal biologic markers for autism. This grant supports the continuation of an investigation of prenatal and newborn biologic markers for autism previously funded by NIH. This project, known as the Early Markers for Autism EMA Study, is the first large, population-based case-control study to utilize these very early biologic specimens to elucidate underlying causes of autism. Preliminary results from the first funding cycle indicate that the mid-pregnancy immune profile of mothers of children with autism spectrum disorders ASD is dysregulated in comparison to mothers of control children. The goal of the new study is to investigate further the role of prenatal and newborn immunologic factors, genetic susceptibility factors, environmental exposures, and the interplay of genes with environment, by evaluating stored prenatal maternal and newborn blood specimens for children with autism, children with mental retardation MR but not autism, and population controls. ...
https://iacc.hhs.gov/apps/portfolio-analysis-web-tool/project?projectId=3679&fy=2010
*  Recent Articles | Single-nucleotide Polymorphism And Cell & Molecular Biology | The Scientist Magazi
Recent Articles. Single-nucleotide Polymorphism And Cell Molecular Biology. The Scientist Magazine. Page 7. The Scientist Sign In or Register. Advertisement. The Scientist. tags: single-nucleotide polymorphism x. cell molecular biology x. The Scientist single-nucleotide polymorphism and cell molecular biology. Most Recent New Piece of a Mysterious Channel By Kerry Grens. November 25, 2014. Researchers have nailed down yet another component of the mechanotransduction complex responsible for relaying signals from hair cells in the ear. 1 Comment. Mapping the Human Proteome By Jef Akst. November 10, 2014. A comprehensive map of human proteins throughout the body identifies the testes as home to the most unique blend of gene products. 0 Comments. Enhanced Enhancers By Eric Olson. November 1, 2014. The recent discovery of super-enhancers may offer new drug targets for a range of diseases. 0 Comments. Mitochondria Munchers By Jyoti Madhusoodanan. November 1, 2014. Glial cells consume mitochondria released by ...
http://the-scientist.com/?articles.list/tagNo/2166,4/tags/single-nucleotide-polymorphism,cell--amp--molecular-biology/pageNo/7/
*  Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome
Improved imputation quality of low-frequency and rare variants in European samples using the Genome of The Netherlands. Broad Institute of MIT and Harvard. Partnerships Philanthropy Careers Contact Us. What is Broad. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. Home. News & Publications:Scientific Publications Improved imputation quality of low-frequency and rare variants in European samples using the Genome of The Netherlands. Recent Broad Publications A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Read More / View Supplemental Materials An integrated map of structural variation in 2,504 human genomes. Read More / View ...
http://broadinstitute.org/publications/broad5792
*  PTPN22
... 'Protein tyrosine phosphatase, non-receptor type 22 lymphoid ', also known as 'PTPN22', is a protein that in humans is encoded by the 'PTPN22' gene. This gene can be expressed in different forms. PTPN22 affects the responsiveness of T and B cell receptors, and mutations are associated with increases or decreases in risks of autoimmune diseases. Molecular biology Function Disease association References Further reading. Molecular biology. The gene is located on the short arm of Chromosome 1 near the end telomere 1p13.2 on the Crick minus strand. It is 57,898 bases in length and encodes a protein of 807 amino acids molecular weight 91,705 Da. There are 24 exon s in the gene and 21 transcript variants encoding 10 distinct proteins are known. The proteins are located in the cytoplasm. 3 Function. This gene encodes a protein tyrosine phosphatase which is expressed primarily in lymphoid tissue s. This enzyme is involved in several signalling pathways associated with the immune response. Based on models of the ...
https://en.wikipedia.org/wiki/PTPN22
*  Rs7341475
rs rs in genetics rs is a single nucleotide polymorphism snp in the reln gene that codes the reelin protein the gene reln is mapped to human chromosome q the snp rs is located in the fourth intron of reln the gene reln has many more snps among its exons and introns even in intron there are tens of snps the snp is currently under investigation for a possible link to schizophrenia a genome wide association study pointed to that a variant of the snp could elevate the risk for schizophrenia among women news references category single nucleotide polymorphisms
https://en.wikipedia.org/wiki/Rs7341475
*  Common disease-common variant
... The 'common disease-common variant' often abbreviated CD-CV hypothesis predicts that common disease-causing alleles, or variants, will be found in all human populations which manifest a given disease. Common variants not necessarily disease-causing are known to exist in coding and regulatory sequences of genes. According to the CD-CV hypothesis, some of those variants lead to susceptibility to complex polygenic diseases. Each variant at each gene influencing a complex disease will have a small additive or multiplicative effect on the disease phenotype. These diseases, or traits, are evolutionary neutral in part because so many genes influence the traits. The hypothesis has held true in the case of putative causal variants in apolipoprotein E, including 'APOE' ε4, associated with Alzheimer's disease. Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease, Anna Sillén, Jorge Andrade, Lena Lilius, Charlotte Forsell, Karin Axelman, Jacob Odeberg, Bengt Winblad and Caroline ...
https://en.wikipedia.org/wiki/Common_disease-common_variant
*  www.biomedcentral.com - Figure
... Resolution: standard / high Figure 1. Comparison of in vitro and in silico SNP detection approach using validated SNPs from two lignin genes. A The SNPs detected in vitro and in silico approach in C4H top and CAD bottom gene were compared to SNPs validated using Illumina GoldenGate assay. The tick and cross indicates polymorphic and monomorphic SNP, respectively, while a dash indicates a failed assay; B The nucleotide and protein sequence of two SNP haplotypes found in CAD gene observed in individual AA3. The haplotypes consist of 12 SNPs within 452 bp. Six non-synonymous SNPs from haplotype 2 which caused a change in amino acid sequences are indicated in bold font. The SNP that is detected only by Bowtie/Samtools approach are circled in red. Wong et al. BMC Genomics 2012 13 :726 doi:10.1186/1471-2164-13-726 Download authors' original image.
http://biomedcentral.com/1471-2164/13/726/figure/F1
*  .. Knome: The Review .. Share this: .. Like this:
Knome: The Review. As today is the day when Knome launches the first commercial whole-genome sequencing and analysis service for individuals, I thought it’s time to write the review about them. If you want to read the review about 23andMe, Navigenics or Helix Health, check out this post. Anyway, they fail to mention the details of their “comprehensive” analysis and the other team members like clinicians or geneticists. They don’t tell us how they predict disease-associated risks neither. Team : The main advisor is unquestionably the best in the field of personalized genetics: George Church, the Professor of Genetics at Harvard Medical School. Service :. Method : Whole-genome sequencing which means not only the essential SNPs single nucleotide polymorphisms will be analyzed, but the whole genetic code of an individual. It will enable us to look at nearly 100% of your genetic code compared to the less than 0.02% currently available on SNP chips. Cost : The service will start at $350,000, including whole-genome ...
http://scienceroll.com/2007/11/30/knome-the-review/?like=1&_wpnonce=408a4faab0
*  Rs6311
rs rs in genetics rs is a gene variation a single nucleotide polymorphism snp in the human htr a gene that codes for the ht a receptor ht a is neuroreceptor and several scientific studies have investigated the effect of the genetic variation on personality e g personality traits measured with the temperament and character inventory or with a psychological task measuring impulsive behavior the snp has also been investigated in rheumatology studies some research studies may refer to this gene variation as a c t snp while others refer to it as a g a polymorphism in the promoter region thus writing it as e g g a or g a meta analysis of research studies indicates that people with the a allele may have slightly elevated risk of schizophrenia rs rs and rs are other investigated snps in the htr a gene references category single nucleotide polymorphisms
https://en.wikipedia.org/wiki/Rs6311
*  gwas - variation in expression accounted for a SNP -- what's a usual percent? - Biology Stack Exchan
gwas - variation in expression accounted for a SNP -- what's a usual percent. - Biology Stack Exchange. Biology. Biology Meta. more stack exchange communities. Stack Exchange. sign up log in tour. Help Center Detailed answers to any questions you might have. Biology Questions. Sign up. Biology Stack Exchange is a question and answer site for biology researchers, academics, and students. variation in expression accounted for a SNP what's a usual percent. I am reading a GWAS paper that found a SNP associated to predisposition to colon cancer and was assessed for gene expression of the nearby gene. They found that the genotype accounted for 55% of the variation in the nearby gene expression. 55% sounds like a lot to me, what is the usual percent accounted for a significant SNP in a study like this. gene-expression gwas snp share. up vote 3 down vote. There have been several 'genome-wide' studies of SNPs that directly affect expression. There are several common SNPs cis-acting that account for ...
http://biology.stackexchange.com/questions/2767/variation-in-expression-accounted-for-a-snp-whats-a-usual-percent?answertab=active
*  [Bioperl-l] how to get the protein sequences from DNA sequences around novel SNPs?
how to get the protein sequences from DNA sequences around novel SNPs. how to get the protein sequences from DNA sequences around novel SNPs. Robert Bradbury robert.bradbury at gmail.com. Previous message: how to get the protein sequences from DNA sequences around novel SNPs. Next message: how to get the protein sequences from DNA sequencesaround novel SNPs. Messages sorted by:. On Mon, Nov 9, 2009 at 1:08 PM, Guangchun Song gc11song at gmail.com wrote: I'm new bioperl user. I' working on a project: To determine the status of all tutative SNPs such as non-synonymous vs. synonymous, and predict the tranlational effect of non-synonymous mutations as benign or malicious. I'm trying to use bioperl to get the DNA sequence and translate to protein sequence for the SNPs that are in gene's coding region. or What are the critical proteins damaged by gene defects in the Human Genome. The value of BioPerl would increase significantly if there were functionality that would allow easy access to these mutations may have ...
http://bioperl.org/pipermail/bioperl-l/2009-November/031568.html
*  Rs4680
rs rs in genetics rs val met is a genetic variant it is a single nucleotide polymorphism snp in the comt gene that codes catechol o methyltransferase the single nucleotide substitution between g a results in an amino acid change from valine to methionine at codon the a or met allele is associated with lower enzymatic activity due to thermoinstability and with exploratory behaviour the polymorphism has been much studied in schizophrenia research but as of november meta analysis in the szgene database shows no or very little effect http www szgene org meta asp geneid polyid several personality genetics studies have examined the association of the polymorphism with personality trait s references category single nucleotide polymorphisms category biology of bipolar disorder
https://en.wikipedia.org/wiki/Rs4680
*  bioinformatics - SNPs mapping into protein - Biology Stack Exchange
... current community. chat blog. Biology. . Biology Meta. your communities. Sign up or log in to customize your list. more stack exchange communities. Stack Exchange. Inbox. Reputation and Badges. sign up log in tour. help. Tour Start here for a quick overview of the site. Help Center Detailed answers to any questions you might have. Meta Discuss the workings and policies of this site. Biology Questions. Tags. Users. Badges. Unanswered. Ask Question. Sign up. Biology Stack Exchange is a question and answer site for biology researchers, academics, and students. It's 100% free, no registration required. SNPs mapping into protein. up vote 0 down vote favorite. Starting a new project on protein-protein interactions and SNP analysis tool development. I would like to ask how does SNPs is mapped into protein. What does mapping means. bioinformatics proteins snp share. improve this question. edited May 13 '13 at 20:52. MattDMo 6,160. 1 18. 41. asked May 13 '13 at 20:06. Zizo 110. 3 I assume SNP means ...
http://biology.stackexchange.com/questions/8341/snps-mapping-into-protein/8342
*  Rs7997012
rs rs in genetics rs is a gene variation a single nucleotide polymorphism snp in intron of the human htr a gene that codes for the ht a receptor the snp varies between adenine a and guanine g dna bases with the g allele being most frequent a research study found it to be related to antidepressant treatment comments the research group reported that a polymorphism rs on another gene the grik has also shown a treatment response association in this kind of treatment in a japanese study rs was not associated with neither major depressive disorder nor bipolar disorder rs rs and his tyr rs are other snps in the htr a gene there are many more even in intron alone references category single nucleotide polymorphisms
https://en.wikipedia.org/wiki/Rs7997012
*  WaferGen Biosystems Launches MyDesign Setting a New Standard in Flexibility with an Open Format H
... igh Throughput qPCR Platform. Post Jobs. WaferGen Biosystems Launches MyDesign - Setting a New Standard in Flexibility with an Open Format High-Throughput qPCR Platform. After loading their custom content on MyDesign SmartChips, customers will be able to perform accurate high-throughput qPCR gene expression and single nucleotide polymorphism SNP genotyping projects in a simpler and more cost-effective way. We are looking forward to deploying the platform in a number of future studies requiring high-throughput qPCR solutions," stated Dr. It provides a range of high-throughput capabilities including microRNA and mRNA gene expression profiling as well as single nucleotide polymorphism SNP genotyping. For additional information, please see: http://www.wafergen.com Forward Looking Statements This press release contains certain "forward-looking statements". Such statements include statements relating to the expected benefits to the Company of its new open format qPCR platform and strategic realignment, the ...
http://biospace.com/News/wafergen-biosystems-launches-mydesign-setting-a/266449
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. MY ALZFORUM. My AlzForum Home. AlzGene - FIELD SYNOPSIS OF GENETIC ASSOCIATION STUDIES IN AD. GWAS and other large-scale association studies. "Sherva, 2011 " AGPAT1. "Sherva, 2011 " ATP6V0A4. "Sherva, 2011 " GLOD4. "Sherva, 2011 " RGS6. "Sherva, 2011 " TMEM132C. The AlzGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in Alzheimer’s disease. In addition, hundreds of meta-analyses are available for all eligible polymorphisms with sufficient data. For details on the background and methods behind AlzGene, see the Methods section. Note to all users: we are in the process of upgrading AlzGene to a new database software. During this process, this version of AlzGene will not be updated regularly. 2007 "Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database." Nat Genet 39 1 : 17-23. AlzGene Recent Updates ...
http://alzgene.org/default.asp?findKeyword=1&keyword=21098978
*  Rs1801133
rs rs c t or rs is a genetic variation a single nucleotide polymorphism snp in the mthfr gene among americans the frequency of t homozygosity ranges from or less among blacks to or more among italians and hispanics it has been related to schizophrenia alzheimer s disease depression autism spina bifida in association studies on oral cleft s down syndrome and fetal anticonvulsant syndrome were either unreplicated or had yielded conflicting results related genetic variants a c is a snp in the same gene studies have investigated the combined effect of c t and a c references category single nucleotide polymorphisms
https://en.wikipedia.org/wiki/Rs1801133
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. My AlzForum Home. AlzGene - FIELD SYNOPSIS OF GENETIC ASSOCIATION STUDIES IN AD. GWAS and other large-scale association studies. The AlzGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in Alzheimer’s disease. In addition, hundreds of meta-analyses are available for all eligible polymorphisms with sufficient data. For details on the background and methods behind AlzGene, see the Methods section. Note to all users: we are in the process of upgrading AlzGene to a new database software. During this process, this version of AlzGene will not be updated regularly. 2007 "Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database." Nat Genet 39 1 : 17-23. AlzGene Recent Updates APOE PICALM MS4A6A MS4A4A MS4A4E EPHA1 CR1 CLU CD33 CD2AP BIN1 ABCA7 ARID5B CELF2 APOC4 BCAM CLPTM1 PVRL2 LOC3884... GWA 9p2... ATXN1 ...
http://alzgene.org/default.asp?findKeyword=1&keyword=18585350
*  Nucleotide Polymorphism | SciVee
Nucleotide Polymorphism. SciVee. × Login. Username:. Password:. Register. Forget your password. Click Here. Follow @SciVee. login upload. Home. Journals. Conferences. Education. Search. All Content. All Content. Journals. Conferences. Education. Communities. SciveeCasts. Videos. All Content Journals Conferences Education Communities. SciveeCasts Videos. Please enter at least 3 characters. Mayo Genome Consortia: Genotype-Phenotype Association Studies Applicable to Analysis of Circulating Bilirubin Levels. submitted by: mcgheekkm. Dr. Suzette Bielinski, Assistant Professor of Epidemiology at Mayo Clinic in Rochester, MN, discusses her Online First article available at: http://tinyurl.com/5utdrst and appearing in the July 2011 issue of Mayo Clinic Proceedings on the Mayo Genome consortia, a genotype-phenotype resource for genome-wide association Studies. Solutions. Products. Journals. Conferences. TeachYou. Education. Brochure. Navigation. Upload. Search. Help. Partners. Terms. Privacy. About. ...
http://scivee.tv/tag/nucleotide_polymorphism
*  Rs1799913
rs rs in genetics rs also called a c is a gene variation a single nucleotide polymorphism snp in the tph gene it is located in intron the snp association with schizophrenia has been examined in several studies though as of with no definitive conclusion one study has found that the snp may be associated with heroin addiction a c rs is another snp in the same intron in the same gene references category single nucleotide polymorphisms
https://en.wikipedia.org/wiki/Rs1799913

Gene polymorphismWGAViewer: WGAViewer is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study (GWAS). Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium (LD) with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP.Infinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.Genetic variation: right|thumbThermal cyclerBranching order of bacterial phyla (Gupta, 2001): There are several models of the Branching order of bacterial phyla, one of these was proposed in 2001 by Gupta based on conserved indels or protein, termed "protein signatures", an alternative approach to molecular phylogeny. Some problematic exceptions and conflicts are present to these conserved indels, however, they are in agreement with several groupings of classes and phyla.DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).Nested case-control study: A nested case control (NCC) study is a variation of a case-control study in which only a subset of controls from the cohort are compared to the incident cases. In a case-cohort study, all incident cases in the cohort are compared to a random subset of participants who do not develop the disease of interest.Amplified fragment length polymorphismPhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Canine hepacivirus: Canine hepacivirus is a single strand RNA virus of the genus Hepacivirus.Kapoor A, Simmonds P, Gerold G, Qaisar N, Jain K, Henriquez JA, Firth C, Hirschberg DL, Rice CM, Shields S, Lipkin WI (2011) Characterization of a canine homolog of hepatitis C virus.Coles PhillipsLayout of the Port of Tianjin: The Port of Tianjin is divided into nine areas: the three core (“Tianjin Xingang”) areas of Beijiang, Nanjiang, and Dongjiang around the Xingang fairway; the Haihe area along the river; the Beitang port area around the Beitangkou estuary; the Dagukou port area in the estuary of the Haihe River; and three areas under construction (Hanggu, Gaoshaling, Nangang).Methylenetetrahydrofolate reductase: Methylene tetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.QRISK: QRISK2 (the most recent version of QRISK) is a prediction algorithm for cardiovascular disease (CVD) that uses traditional risk factors (age, systolic blood pressure, smoking status and ratio of total serum cholesterol to high-density lipoprotein cholesterol) together with body mass index, ethnicity, measures of deprivation, family history, chronic kidney disease, rheumatoid arthritis, atrial fibrillation, diabetes mellitus, and antihypertensive treatment.Symmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Bacterial glutathione transferase: Bacterial glutathione transferases (GSTs; EC 2.5.List of people with hepatitis C: The infectious disease hepatitis C is caused by the hepatitis C virus (HCV), which affects the liver and is transmitted by blood-to-blood contact, or by exposure to another person's infected blood. The infection is often asymptomatic, but chronic infection can cause inflammation of the liver (chronic hepatitis).Disequilibrium (medicine): Disequilibrium}}RibavirinHepatitis B virus precore mutant: A precore mutant is a variety of hepatitis B virus that does not produce hepatitis B virus e antigen (HBeAg). These mutants are important because infections caused by these viruses are difficult to treat, and can cause infections of prolonged duration and with a higher risk of liver cirrhosis.Antiviral drug: Antiviral drugs are a class of medication used specifically for treating viral infections. Like antibiotics for bacteria, specific antivirals are used for specific viruses.Microsatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.Cooperstown cocktail: The Cooperstown cocktailStreetman D, Bleakley J et al. Combined phenotypic assessment of CYP1A2, CYP2C19, CYP2D6, CYP3A, N-acetyltransferase-2, and xanthine oxidase with the "Cooperstown cocktail".Multiple Loci VNTR Analysis: Multiple Loci VNTR Analysis (MLVA ) is a method employed for the genetic analysis of particular microorganisms, such as pathogenic bacteria, that takes advantage of the polymorphism of tandemly repeated DNA sequences. A "VNTR" is a "variable-number tandem repeat".Niigata UniversityPanmixia: Panmixia (or panmixis) means random mating.King C and Stanfield W.Pharmacogenetics: Pharmacogenetics is the study of inherited genetic differences in drug metabolic pathways which can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects. The term pharmacogenetics is often used interchangeably with the term pharmacogenomics which also investigates the role of acquired and inherited genetic differences in relation to drug response and drug behavior through a systematic examination of genes, gene products, and inter- and intra-individual variation in gene expression and function.Serotonin transporter: The serotonin transporter (SERT or 5-HTT) also known as the sodium-dependent serotonin transporter and solute carrier family 6 member 4 is a protein that in humans is encoded by the SLC6A4 gene. SERT is a type of monoamine transporter protein that transports serotonin from the synaptic cleft to the presynaptic neuron.PEGylationChromosome regionsHepatitis E virus cis-reactive elementStatnamic load test: The Statnamic load test is a type of test for assessing the load carrying capacity of deep foundations which is faster and less expensive than the static load test. The Statnamic test was conceived in 1985, with the first prototype tests carried out in 1988 through collaboration between Berminghammer Foundation Equipment of Canada and TNO Building Research of the Netherlands (Middendorp et al.Drug reaction testing: Drug reaction testing uses a genetic test to predict how a particular person will respond to various prescription and non-prescription medications. It checks for genes that code for specific liver enzymes which activate, deactivate, or are influenced by various drugs.Hepatitis B immune globulinPopulation stratification: Population stratification is the presence of a systematic difference in allele frequencies between subpopulations in a population possibly due to different ancestry, especially in the context of association studies. Population stratification is also referred to as population structure, in this context.Plant breedingUniversity of CampinasNS3 (HCV): Nonstructural protein 3 (NS3), also known as p-70, is a viral nonstructural protein that is 70 kDa cleavage product of the hepatitis C virus polyprotein. It acts as a serine protease.GC box: In molecular biology, a GC box is a distinct pattern of nucleotides found in the promoter region of some eukaryotic genes upstream of the TATA box and approximately 110 bases upstream from the transcription initiation site. It has a consensus sequence GGGCGG which is position dependent and orientation independent.NitazoxanideGenetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.N1-acetylpolyamine oxidase: N1-acetylpolyamine oxidase (, hPAO-1, mPAO, hPAO) is an enzyme with system name N1-acetylpolyamine:oxygen oxidoreductase (3-acetamidopropanal-forming). This enzyme catalyses the following chemical reactionMolecular evolution: Molecular evolution is a change in the sequence composition of cellular molecules such as DNA, RNA, and proteins across generations. The field of molecular evolution uses principles of evolutionary biology and population genetics to explain patterns in these changes.Rotavirus: Rotavirus is the most common cause of severe diarrhoea among infants and young children. It is a genus of double-stranded RNA virus in the family Reoviridae.Protein primary structure: The primary structure of a peptide or protein is the linear sequence of its amino acid structural units, and partly comprises its overall biomolecular structure. By convention, the primary structure of a protein is reported starting from the amino-terminal (N) end to the carboxyl-terminal (C) end.Selection (relational algebra): In relational algebra, a selection (sometimes called a restriction to avoid confusion with SQL's use of SELECT) is a unary operation written asRAPD: RAPD (pronounced "rapid") stands for 'Random Amplified Polymorphic DNA'. It is a type of PCR reaction, but the segments of DNA that are amplified are random.MBL deficiency: MBL deficiency refers to Mannan-binding lectin pathway components such as MBL2.

(1/50503) Sulfhydryl compounds in melanocytes of yellow (Ay/a), nonagouti (a/a), and agouti (A/A) mice.

CLEFFMANN (1953, 1963a,b) has reported that yellow but not black melanocytes of agouti (A/A) rabbits contained reducing sulfhydryl compounds. We have attempted to repeat CLEFFMANN's observations in mouse melanocytes of the lethal yellow (Ay/a), nonagouti (a/a) and agouti (A/A) genotypes. Our results contradict those of CLEFFMANN and reveal that yellow and black melanocytes, regardless of genotype, possess equivalent amounts of histochemically detectable sulfhydryl compounds. These results do not support the hypothesis that agouti-locus genes act by controlling the sulfhydryl metabolism of pigment cells.  (+info)

(2/50503) JunB is essential for mammalian placentation.

Lack of JunB, an immediate early gene product and member of the AP-1 transcription factor family causes embryonic lethality between E8.5 and E10.0. Although mutant embryos are severely retarded in growth and development, cellular proliferation is apparently not impaired. Retardation and embryonic death are caused by the inability of JunB-deficient embryos to establish proper vascular interactions with the maternal circulation due to multiple defects in extra-embryonic tissues. The onset of the phenotypic defects correlates well with high expression of junB in wild-type extra-embryonic tissues. In trophoblasts, the lack of JunB causes a deregulation of proliferin, matrix metalloproteinase-9 (MMP-9) and urokinase plasminogen activator (uPA) gene expression, resulting in a defective neovascularization of the decidua. As a result of downregulation of the VEGF-receptor 1 (flt-1), blood vessels in the yolk sac mesoderm appeared dilated. Mutant embryos which escape these initial defects finally die from a non-vascularized placental labyrinth. Injection of junB-/- embryonic stem (ES) cells into tetraploid wild-type blastocysts resulted in a partial rescue, in which the ES cell-derived fetuses were no longer growth retarded and displayed a normal placental labyrinth. Therefore, JunB appears to be involved in multiple signaling pathways regulating genes involved in the establishment of a proper feto-maternal circulatory system.  (+info)

(3/50503) Metallothionein-null mice absorb less Zn from an egg-white diet, but a similar amount from solutions, although with altered intertissue Zn distribution.

The influence of metallothionein (MT) on Zn transfer into non-gut tissues was investigated in MT-null (MT-/-) and normal (MT+/+) mice 4 h after oral gavage of aqueous 65ZnSO4solution at doses of 154, 385, 770 and 1540 nmol Zn per mouse. Zn transfer was not significantly different between MT+/+ and MT-/- mice and was directly proportional to the oral dose (slope = 0.127, r = 0.991; 0. 146, r = 0.994, respectively). Blood 65Zn and plasma Zn concentrations increased progressively in MT-/- mice at doses >154 nmol Zn, reaching levels of 2.4% of oral dose and 60 micromol/L, respectively, at the 1540 nmol Zn dose. The corresponding values for MT+/+ mice were approximately half, 1.0% and 29 micromol/L. Intergenotypic differences were found in tissue distribution of 65Zn within the body; MT-/- mice had higher 65Zn levels in muscle, skin, heart and brain, whereas MT+/+ mice retained progressively more Zn in the liver, in conjunction with a linear increase in hepatic MT up to the highest Zn dose. MT induction in the small intestine reached its maximum at an oral dose of 385 nmol Zn and did not differ at higher doses. Absorption of a 770 nmol 65Zn dose from a solid egg-white diet was only one fourth (MT+/+) and one eighth (MT-/-) of the Zn absorption from the same dose of 65Zn in aqueous solution. MT+/+ mice had greater (P < 0.05) Zn absorption from the egg-white diet than did MT-/- mice, indicating that gut MT confers an absorptive advantage, but only when Zn is incorporated into solid food.  (+info)

(4/50503) Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease.

Juvenile haemochromatosis is a rare inborn error of iron metabolism with clinical manifestations before 30 years of age. Unlike adult haemochromatosis which principally affects men, juvenile haemochromatosis affects the sexes equally; it causes early endocrine failure, dilated cardiomyopathy and joint disease. We report four patients (two of each sex) from three pedigrees affected by juvenile haemochromatosis with a mean onset at 22 years (range 14-30). All had endocrine deficiency with postpubertal gonadal failure secondary to pituitary disease; two suffered near-fatal cardiomyopathy with heart failure. Mean time to diagnosis from the first clinical signs of disease was 9.8 years (range 0.5-20) but general health and parameters of iron storage responded favourably to iron-depletion therapy. A 24-year-old man listed for heart transplantation because of cardiomyopathy [left ventricular (LV) ejection fraction 16%] responded to intravenous iron chelation with desferrioxamine combined with phlebotomy (ejection fraction 31%). A 27-year-old woman with subacute biventricular heart failure refractory to medication required orthotopic cardiac transplantation before the diagnosis was established (LV ejection fraction 25%). Genetic studies showed that these two patients with cardiomyopathy from unrelated families were heterozygous for the HFE 845G-->A (C282Y) mutation and wild-type at the H63D locus: complete sequencing of the intron-exon boundaries and entire coding sequence of the HFE gene failed to identify additional lesions. Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p. Juvenile haemochromatosis is thus a genetically heterogenous disorder distinct from the common adult variant.  (+info)

(5/50503) Clusters of Pneumocystis carinii pneumonia: analysis of person-to-person transmission by genotyping.

Genotyping at the internal transcribed spacer (ITS) regions of the nuclear rRNA operon was performed on isolates of P. carinii sp. f. hominis from three clusters of P. carinii pneumonia among eight patients with haematological malignancies and six with HIV infection. Nine different ITS sequence types of P. carinii sp. f. hominis were identified in the samples from the patients with haematological malignancies, suggesting that this cluster of cases of P. carinii pneumonia was unlikely to have resulted from nosocomial transmission. A common ITS sequence type was observed in two of the patients with haematological malignancies who shared a hospital room, and also in two of the patients with HIV infection who had prolonged close contact on the ward. In contrast, different ITS sequence types were detected in samples from an HIV-infected homosexual couple who shared the same household. These data suggest that person-to-person transmission of P. carinii sp. f. hominis may occur from infected to susceptible immunosuppressed patients with close contact within hospital environments. However direct transmission between patients did not account for the majority of cases within the clusters, suggesting that person-to-person transmission of P. carinii sp. f. hominis infection may be a relatively infrequent event and does not constitute the major route of transmission in man.  (+info)

(6/50503) Structure of cag pathogenicity island in Japanese Helicobacter pylori isolates.

BACKGROUND: cag pathogenicity island (PAI) is reported to be a major virulence factor of Helicobacter pylori. AIM: To characterise cagA and the cag PAI in Japanese H pylori strains. METHODS: H pylori isolates from Japanese patients were evaluated for CagA by immunoblot, for cagA transcription by northern blot, and for cagA and 13 other cag PAI genes by Southern blot. cagA negative strains from Western countries were also studied. Induction of interleukin-8 secretion from gastric epithelial cells was also investigated. RESULTS: All Japanese strains retained cagA. Fifty nine of 63 (94%) strains had all the cag PAI genes. In the remaining four, cag PAI was partially deleted, lacking cagA transcripts and not producing CagA protein. Details of the PAI of these strains were checked; three lacked cagB to cagQ (cagI) and continuously cagS to cag13 (cagII), and the remaining one lacked cagB to cag8. Western cagA negative strains completely lacked cag PAI including cagA. Nucleotide sequence analysis in one strain in which the cag PAI was partially deleted showed that the partial deletion contained 25 kb of cag PAI and the cagA promoter. Interleukin-8 induction was lower with the cag PAI partial deletion strains than with the intact ones. All Japanese cag PAI deleted strains were derived from patients with non-ulcer dyspepsia, whereas 41 of 59 (70%) CagA-producing strains were from patients with peptic ulcers or gastric cancer (p<0.05). CONCLUSIONS: Most Japanese H pylori strains had the intact cag PAI. However, some lacked most of the cag PAI in spite of the presence of cagA. Thus the presence of the cagA gene is not an invariable marker of cag PAI related virulence in Japanese strains.  (+info)

(7/50503) Disruption of the Toxoplasma gondii bradyzoite-specific gene BAG1 decreases in vivo cyst formation.

The bradyzoite stage of the Apicomplexan protozoan parasite Toxoplasma gondii plays a critical role in maintenance of latent infection. We reported previously the cloning of a bradyzoite-specific gene BAG1/hsp30 (previously referred to as BAG5) encoding a cytoplasmic antigen related to small heat shock proteins. We have now disrupted BAG1 in the T. gondii PLK strain by homologous recombination. H7, a cloned null mutant, and Y8, a control positive for both cat and BAG1, were chosen for further characterization. Immunofluorescence and Western blot analysis of bradyzoites with BAG1 antisera demonstrated expression of BAG1 in the Y8 and the PLK strain but no expression in H7. All three strains expressed a 116 kDa bradyzoite cyst wall antigen, a 29 kDa matrix antigen and the 65 kDa matrix reactive antigen MAG1. Mice inoculated with H7 parasites formed significantly fewer cysts than those inoculated with the Y8 and the PLK strains. H7 parasites were complemented with BAG1 using phleomycin selection. Cyst formation in vivo for the BAG1-complemented H7 parasites was similar to wild-type parasites. We therefore conclude that BAG1 is not essential for cyst formation, but facilitates formation of cysts in vivo.  (+info)

(8/50503) Ovine MHC class II DRB1 alleles associated with resistance or susceptibility to development of bovine leukemia virus-induced ovine lymphoma.

For the further characterization of bovine leukemia virus (BLV)-induced leukemogenesis, we investigated the association between polymorphism of ovine leukocyte antigen (OLA)-DRB1 gene and tumor development after infection of sheep with BLV. We infected 28 sheep with BLV and cloned exon 2 of the OLA-DRB1 gene from asymptomatic animals and from animals with lymphoma Sequence analysis revealed that, among 12 healthy sheep without any evidence of tumor, ten (83.3%) carried DRB1 alleles encoding Arg-Lys (RK) at positions beta70/71 as compared with only 6 (37.5%) of the 16 sheep with lymphoma, which suggested that alleles encoding the RK motif might protect against development of tumors after infection by BLV. By contrast, alleles encoding Ser-Arg (SR) at positions beta70/71 were present at a significantly elevated frequency in sheep with lymphoma as compared with the healthy carriers, which indicated that OLA-DRB1 alleles encoding the SR motif might be positively related to susceptibility to tumor development. The two amino acids in these motifs line a pocket that accommodates the side chain of a bound peptide according to a model of the crystal structure of human leukocyte antigen (HLA)-DR1. To analyze immunoreactions of sheep with alleles that encoded RK or SR at beta70/71, we selected sheep with either the RK/SR genotypes or the SR/SR genotypes and immunized them with a mixture of multiple synthetic antigenic peptides that corresponded to T-helper, T-cytotoxic, and B-cell epitopes of the BLV envelope glycoprotein gp51. Two weeks after the last immunization, all of the sheep were challenged with BLV. Sheep with the RK/SR genotype produced neutralizing antibodies against BLV; they eliminated BLV completely within 28 weeks of the BLV challenge, and they gave strong lymphocyte-proliferative responses to the peptides used for immunization. Moreover, such animals did not develop lymphoma. By contrast, sheep with the SR/SR genotype continued to produce BLV throughout the experimental period and developed terminal disease. Our results indicate that the differences in immunoresponse were due to differences in major histocompatibility complex class II alleles and reflected the risk of BLV-induced leukemogenesis. In addition, it appears that susceptibility to tumor development may be determined to some extent by polymorphic residues binding to antigenic peptides directly within the binding cleft of the OLA-DR molecule.  (+info)


phenotype


  • I'm confused about phenotype and genotype ratio after you do a monohybrid cross. (biology-online.org)
  • for example, after the cross, I have RR Rr Rr rr, the genotype is 1:2:1 and the phenotype is 3:1, right? (biology-online.org)
  • Is the phenotype 2:2 and genotype 1:1? (biology-online.org)
  • However, remember, in a monohibridation cross you get 1:2:1 genotype and 3:1 phenotype. (biology-online.org)
  • To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria. (bmj.com)
  • Background In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment. (bmj.com)
  • Conclusions The combination of genotype-specific functional analyses with biochemical, clinical, and therapeutic data of individual patients may serve as a powerful tool to enable phenotype prediction and to establish personalised medicine strategies for dietary regimens and pharmacological treatment in phenylketonuria. (bmj.com)
  • The purpose of this research is to investigate and determine the genotype-phenotype relationship of how atg18a8J16, atg18a9E6, and atg18aP alleles give rise to atg18a loss of function and characterize the effect of these mutations on neuronal maturation using the Drosophila eye as a model. (udel.edu)


correlations


  • In this study, we characterised the expression of the imprinted, maternally expressed gene, CDKN1C (p57 KIP2 ), the genotype, and the histopathology of 36 products of conception (POC) from patients with two defective alleles in NLRP7 and looked for potential correlations between the nature of the mutations in the patients and the various HM features. (bmj.com)


SNPs


  • RESEARCH DESIGN AND METHODS DNA samples from 3,024 adult fasting participants in the National Health and Nutrition Examination Survey (NHANES) III (1991-1994) were genotyped for 16 novel FG-associated SNPs in multiple genes. (diabetesjournals.org)
  • RESEARCH DESIGN AND METHODS- Seventeen type 2 diabetes-associated single nucleotide polymorphisms (SNPs) were genotyped in 1,268 Hispanic- and 581 African-American participants from the IRAS-FS. (diabetesjournals.org)


2016


  • Blackman CJ, Aspinwall MJ, Resco de Dios V, Smith R, Tissue DT (2016) Leaf photosynthetic, economics and hydraulic traits are decoupled among genotypes of a widespread species of eucalypt grown under ambient and elevated CO2. (datadryad.org)


variation


  • These results suggest suites of leaf traits associated with photosynthetic capacity, economics and water-use and hydraulics, respectively, can form independent axes of variation among genotypes of a single species, regardless of growth CO2. (datadryad.org)
  • Genotype-specific variation in the structure of root fungal communities is related to chickpea plant productivity. (ub.ac.id)


novel


  • Although growth in eCO2 did not substantially alter patterns of trait coordination, decoupling of leaf functional traits among genotypes may allow genetically distinct populations to produce novel combinations of traits that may be adaptive in response to changes in their local environment. (datadryad.org)


Genetics


  • Of these, the TCF7L2 genotype was determined in 4,469 patients with type 2 diabetes recruited to GoDARTS (Genetics of Diabetes Audit and Research Tayside) between 1997 and July 2006. (diabetesjournals.org)


homozygous


  • The development of tolerance following the use of long acting β 2 agonists in asthmatic patients with either the homozygous arginine (Arg-16) or glycine (Gly-16) genotypes is poorly documented, especially in relation to the acute reliever response to salbutamol in constricted airways. (bmj.com)
  • We determined phenylalanine hydroxylase function of 30 frequent homozygous and compound heterozygous genotypes covering 55% of the study population, generated activity landscapes, and assessed the phenylalanine hydroxylase working range in the metabolic (phenylalanine) and therapeutic (tetrahydrobiopterin) space. (bmj.com)


genes


  • Seventy-four patients with VD of whom 36 had CP were genotyped for single nucleotide polymorphisms in the IL1A -889 (rs1800587), IL1B +3954 (rs1143634) and IL1B at −511 (rs16944) genes and for VNTR polymorphisms in the IL1RN gene. (wiley.com)


frequencies


  • CTSD genotype frequencies in AD were not significantly different from those in control subjects, nor did these differ between cases of early or late onset AD or between younger and older controls. (bmj.com)
  • Genotyping was performed using the Sequenom MassArray platform and frequencies compared with data derived from large UK control collections. (bmj.com)


significantly


  • Pre-challenge FEV 1 values for both genotypes did not differ significantly between the first and last doses of each treatment. (bmj.com)
  • Acute salbutamol recovery in methacholine constricted airways was significantly delayed to a similar degree in both genotypes due to cross tolerance induced by FM or SM. (bmj.com)
  • In female patients, C/C genotype was significantly more common in non-responders than in responders [OR = 6.04 (95% Cl 1.67-21.93), p = 0.005] or in the control population [OR = 4.16 (95% CI 1.46-11.84), p = 0.005]. (uta.fi)
  • In addition, the frequency of the IL1RN VNTR genotypes 1/1 (4/4 repeats) and 2/2 (2/2 repeats) were significantly higher and lower, respectively, in VD patients with CP. (wiley.com)


functional


  • Leaf functional trait data for individual replicates of 14 Eucalyptus camaldulensis genotypes grown under ambient (400ppm) and elevated (640ppm) CO2. (datadryad.org)


patients


  • Methods A literature search revealed 690 different phenylalanine hydroxylase genotypes in 3066 phenylketonuria patients from Europe and the Middle East. (bmj.com)


investigate


  • To investigate which traits confer tolerance on plants in these areas a range of genotypes was studied. (bl.uk)


grown


  • We examined the relationships among key leaf photosynthetic (e.g. net photosynthesis and photosynthetic biochemistry), economics and water-use (e.g. leaf mass per unit area and stomatal conductance) and hydraulic traits (e.g. vein density) in 14 genotypes of Eucalyptus camaldulensis grown in ambient (aCO2) and elevated (eCO2) [CO2]. (datadryad.org)


Diet


  • I thought I'd share these ideas from a newsletter I received, based on The Genotype Diet. (blogspot.com)
  • The results that the researchers have obtained appear to be very clear: within a year, women who followed a diet tailored to their genotype lost, on average, 6.35 pounds, almost three times the weight reduction observed in women in the control group. (blogspot.com)


evaluate


  • A study was undertaken to evaluate the Arg-16 and Gly-16 genotypes for the acute salbutamol response following methacholine bronchial challenge between the first and last doses of formoterol (FM) and salmeterol (SM) combination inhalers. (bmj.com)
  • A pot experiment was conducted under glasshouse conditions to evaluate response of some cowpea genotypes to Arbuscular Mycorrhiza. (ub.ac.id)


tolerance


  • In vitro, using transfected cell lines, the Gly-16 genotype has been shown to be associated with an increased β 2 agonist promoted downregulation of β 2 adrenoceptors 1, 2 while, in vivo, this genotype has been shown to be associated with enhanced bronchodilator tolerance to both short and long acting β 2 agonists. (bmj.com)
  • 6, 7 No previous studies have compared the genotypes in terms of tolerance development between the first and last dose of β 2 agonist. (bmj.com)


studies


  • British Library EThOS: Competition studies of genotype interactions in crop mixtures. (bl.uk)
  • Competition studies of genotype interactions in crop mixtures. (bl.uk)


treatment


  • 0.05) equally in both genotype and treatment groups. (bmj.com)
  • There were no differences in salbutamol recovery in either genotype or treatment group. (bmj.com)


response


  • We studied the effect of TCF7L2 rs12255372 and rs7903146 genotypes on glycemic response. (diabetesjournals.org)
  • Differential response of common bean genotypes to mycorrhizal colonization. (ub.ac.id)


participants


  • For the current study, NHS and HPFS participants were T2D case subjects who had genotype data from the NHS and HPFS T2D GWAS ( 11 ). (diabetesjournals.org)


different


  • genotypes to inoculation with different arbuscular mycorrhizal fungi. (ub.ac.id)


data


  • 3- 5 Other in vivo data have suggested that the Arg-16 genotype is associated with worse outcomes after exposure to regular short acting β 2 agonist in terms of peak expiratory flow (PEF) and asthma exacerbations. (bmj.com)


associations


  • Genotype associations for CFH and ARMS2 variants were assessed using logistic regression analysis. (bmj.com)


development


  • The carriage of the risk genotypes, the development and the subsequent influence of CP on systemic health may constitute an additional burden in the pathogenesis of VD. (wiley.com)


effect


  • Effect of genotype of Trifolium repens on mycorrhizal symbiosis with Glomus mosseae. (ub.ac.id)


type


  • Types B and A mutations contributed to mixed type, BB being the most representative genotype. (bmj.com)


research


  • In addition, we provide a web application for retrieving country-specific information on genotypes and genotype-specific phenylalanine hydroxylase function that warrants continuous extension, updates, and research on demand. (bmj.com)


study


  • The whole question of genotypes, as confirmed by a recent study conducted by researchers at Stanford University, California, presented at the annual American Heart Association agree. (blogspot.com)


blood


  • CTSD and APOE genotyping were performed by PCR on DNA extracted from blood, or from frontal cortex or cerebellum in the postmortem cases. (bmj.com)
  • The Blood Center of Wisconsin recently implemented mass-scale red blood cell genotyping on non-Caucasian donors and repeat donors who had a recent blood donation. (transfusionnews.com)


Is there anything that can be done to contain a situation where a man and his wife are both of genotype AS wit?


  • If nothing can be done to prevent the occurence of SS genotype, what should they do to help such child.
  • The only thing you could do to a homozygous, that is SS genotype, anemia patient is to : -Pain control -Adequate hydration -Treatment of complication -Transfusion and Exchange transfusion in some patients -Bone marrow transplantation (in selected patients). It is the only "permanent" treatment" There is gene therapy "trials" but nothing applicable, yet.


What possible genotype parent would produce an As gene child?


  • My genotype is AA my BG is 0+ my wife's BG is B+ only her genotype that I dont know. How come our child's genotype is As and his BG B+ ? pls, help.
  • BG- are you meaning blood group? I'm not sure I'm totally understanding your question, but if you're talking about ABO blood groups I think I can help. You're genotype is not AA if you have type O+ phenotype blood. O+ is actually a lack of the other two genotypes and you would be O/O. If your wife is phenotype B+, then her genotype is either B/B or B/O. It would make sense that your child has type B blood and his genotype would be B/O and his phenotype would be B+ (although two Rh + people can have Rh - children as well- which is actually the case with one of my daughters). I have no idea where you are getting the AA genotype information from.


Can persons be infected with multiple genotypes of hepatitis C at the same time?


  • Does that mean that they must have multiple therapies? In other words could you knock out one genotype and still be stuck with several others?
  • Yes, it is possible to be infected with more than one genotype, although it's not all that common. And yes, it's possible to knock out one genotype and still be stuck with a different one. http://www.ncbi.nlm.nih.gov/pubmed/12829042


What is the best match for a blood type 0 positive and genotype AA?


  • My Fiancee has a blood type O positive and genotype AA while i am an O negative.. I am not sure what my genotype or phenotype is. Is this a good match if we plan to have children?
  • uhm the perfect match for a blood type?yah u could have kids still even if the blood types werent perfectly matched for eachother im sure


What is the genotype of a sickle cell?


  • Sickle cell genotype and normal cell genotype.
  • HbS HbS for a sickler. HbS HbA for a carrier. HbA HbA is the normal (most common) genotype.


What is the genotype of cri du chat syndrome?


  • What are the possible genotypes of the parents that have children with cri du chat syndrome? Or what are the genotypes of the children with cri du chat syndrome?
  • um... its a chromosome 5p deletion that causes all the problems. It would be noted as "46, XX (XY if male) 5p-" in the child. This disease doesn't follow a Mendallion inheritance pattern. It occurs due to random mutations. And the child usually don't have offspring of their own. if you have more questions please ask, hope that helps. P.S. I expect a 16 yr old to know what Mendallion inheritance is because my 16 year old sister knows. In fact, she reminded me of his name.


If a man's and his wife's genotype are both AS. What can they do to prevent or manage the possibilities of giv?


  • If nothing can be done to prevent the occurence of a child with SS-genotype. How should they handle such situation.
  • Adopt.


a genetic disease is caused by the genotype aa. A woman known to be a carrier for the disease mates with a hea?


  • a genetic disease is caused by the genotype aa. A woman known to be a carrier for the disease mates with a healthy man. They have a daughter that has the disease and want to know the chance of their second child having the disease. What is the chance that their second child will have the disease?
  • the same as for the first. if he has no aa genotype, the child can only be a carrier.