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.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding 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.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.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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.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.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Genetic Variation: Genotypic differences observed among individuals in a population.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Homozygote: An individual in which both alleles at a given locus are identical.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.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.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.China: A country spanning from central Asia to the Pacific Ocean.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.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.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.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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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).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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.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.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.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.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.Catechol O-Methyltransferase: Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.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.JapanPhylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.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).Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).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.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.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.Cohort 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.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).Deoxyribonucleases, Type II Site-Specific: Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.INDEL Mutation: A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.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.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Xeroderma Pigmentosum Group D Protein: A DNA helicase that is a component of TRANSCRIPTION FACTOR TFIIH. It plays an essential role in NUCLEOTIDE EXCISION REPAIR, and mutations in this protein are associated with XERODERMA PIGMENTOSUM.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.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).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.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.Publication Bias: The influence of study results on the chances of publication and the tendency of investigators, reviewers, and editors to submit or accept manuscripts for publication based on the direction or strength of the study findings. Publication bias has an impact on the interpretation of clinical trials and meta-analyses. Bias can be minimized by insistence by editors on high-quality research, thorough literature reviews, acknowledgement of conflicts of interest, modification of peer review practices, etc.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.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.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.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.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.Aryldialkylphosphatase: An enzyme which catalyzes the hydrolysis of an aryl-dialkyl phosphate to form dialkyl phosphate and an aryl alcohol. It can hydrolyze a broad spectrum of organophosphate substrates and a number of aromatic carboxylic acid esters. It may also mediate an enzymatic protection of LOW DENSITY LIPOPROTEINS against oxidative modification and the consequent series of events leading to ATHEROMA formation. The enzyme was previously regarded to be identical with Arylesterase (EC 3.1.1.2).Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.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.Smoking: Inhaling and exhaling the smoke of burning TOBACCO.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.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.Mutation, 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)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.Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.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.Dinucleotide Repeats: The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.Tandem Repeat Sequences: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).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.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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Heterozygote Detection: Identification of genetic carriers for a given trait.Age 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.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase: An enzyme that catalyzes the formation of methionine by transfer of a methyl group from 5-methyltetrahydrofolate to homocysteine. It requires a cobamide coenzyme. The enzyme can act on mono- or triglutamate derivatives. EC 2.1.1.13.IndiaDiabetes Mellitus, Type 2: A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.Tunisia: A country in northern Africa between ALGERIA and LIBYA. Its capital is Tunis.Valine: A branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.Cytochrome P-450 CYP2E1: An ethanol-inducible cytochrome P450 enzyme that metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Substrates include ETHANOL; INHALATION ANESTHETICS; BENZENE; ACETAMINOPHEN and other low molecular weight compounds. CYP2E1 has been used as an enzyme marker in the study of alcohol abuse.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.3' Untranslated Regions: The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.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.Breast Neoplasms: Tumors or cancer of the human BREAST.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.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.PolandGlucuronosyltransferase: 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.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.Gene 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.Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.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.TaiwanSequence 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.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.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.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.Receptors, Dopamine D4: A subtype of dopamine D2 receptors that has high affinity for the antipsychotic CLOZAPINE.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.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.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.DNA, Neoplasm: DNA present in neoplastic tissue.Lung Neoplasms: Tumors or cancer of the LUNG.Reference Values: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.Epoxide Hydrolases: Enzymes that catalyze reversibly the formation of an epoxide or arene oxide from a glycol or aromatic diol, respectively.Stomach Neoplasms: Tumors or cancer of the STOMACH.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)TurkeyItalyRepetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).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.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.Spain: Parliamentary democracy located between France on the northeast and Portugual on the west and bordered by the Atlantic Ocean and the Mediterranean Sea.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.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.BrazilAfrican Americans: Persons living in the United States having origins in any of the black groups of Africa.Hypertension: Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.EuropeDeoxyribonuclease HpaII: One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4). It recognizes and cleaves the sequences C/CGG and GGC/C at the slash. HpaII is from Haemophilus parainfluenzae. Several isoschizomers have been identified. EC 3.1.21.-.Antigens, Human Platelet: Human alloantigens expressed only on platelets, specifically on platelet membrane glycoproteins. These platelet-specific antigens are immunogenic and can result in pathological reactions to transfusion therapy.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.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.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.P-Glycoprotein: A 170-kDa transmembrane glycoprotein from the superfamily of ATP-BINDING CASSETTE TRANSPORTERS. It serves as an ATP-dependent efflux pump for a variety of chemicals, including many ANTINEOPLASTIC AGENTS. Overexpression of this glycoprotein is associated with multidrug resistance (see DRUG RESISTANCE, MULTIPLE).Tumor Necrosis Factor-alpha: Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS.Risk Assessment: The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Czech Republic: Created 1 January 1993 as a result of the division of Czechoslovakia into the Czech Republic and Slovakia.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.DNA, Ribosomal: DNA sequences encoding RIBOSOMAL RNA and the segments of DNA separating the individual ribosomal RNA genes, referred to as RIBOSOMAL SPACER DNA.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.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)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.HLA-DRB1 Chains: A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)DNA, Protozoan: Deoxyribonucleic acid that makes up the genetic material of protozoa.Aldosterone Synthase: A mitochondrial cytochrome P450 enzyme that catalyzes the 18-hydroxylation of steroids in the presence of molecular oxygen and NADPH-specific flavoprotein. This enzyme, encoded by CYP11B2 gene, is important in the conversion of CORTICOSTERONE to 18-hydroxycorticosterone and the subsequent conversion to ALDOSTERONE.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Apolipoprotein C-III: A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS and CHYLOMICRON REMNANTS. Apo C-III, synthesized in the liver, is an inhibitor of LIPOPROTEIN LIPASE. Apo C-III modulates the binding of chylomicron remnants and VLDL to receptors (RECEPTORS, LDL) thus decreases the uptake of triglyceride-rich particles by the liver cells and subsequent degradation. The normal Apo C-III is glycosylated. There are several polymorphic forms with varying amounts of SIALIC ACID (Apo C-III-0, Apo C-III-1, and Apo C-III-2).Lymphotoxin-alpha: A tumor necrosis factor family member that is released by activated LYMPHOCYTES. Soluble lymphotoxin is specific for TUMOR NECROSIS FACTOR RECEPTOR TYPE I; TUMOR NECROSIS FACTOR RECEPTOR TYPE II; and TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14. Lymphotoxin-alpha can form a membrane-bound heterodimer with LYMPHOTOXIN-BETA that has specificity for the LYMPHOTOXIN BETA RECEPTOR.Cytochrome P-450 Enzyme System: A superfamily of hundreds of closely related HEMEPROTEINS found throughout the phylogenetic spectrum, from animals, plants, fungi, to bacteria. They include numerous complex monooxygenases (MIXED FUNCTION OXYGENASES). In animals, these P-450 enzymes serve two major functions: (1) biosynthesis of steroids, fatty acids, and bile acids; (2) metabolism of endogenous and a wide variety of exogenous substrates, such as toxins and drugs (BIOTRANSFORMATION). They are classified, according to their sequence similarities rather than functions, into CYP gene families (>40% homology) and subfamilies (>59% homology). For example, enzymes from the CYP1, CYP2, and CYP3 gene families are responsible for most drug metabolism.EsterasesHomocysteine: A thiol-containing amino acid formed by a demethylation of METHIONINE.Carcinoma, Squamous Cell: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)Protein Tyrosine Phosphatase, Non-Receptor Type 22: A subtype of non-receptor protein tyrosine phosphatases that is characterized by the presence of an N-terminal catalytic domain and a C-terminal PROLINE-rich domain. The phosphatase subtype is predominantly expressed in LYMPHOCYTES and plays a key role in the inhibition of downstream T-LYMPHOCYTE activation. Polymorphisms in the gene that encodes this phosphatase subtype are associated with a variety of AUTOIMMUNE DISEASES.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.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.Membrane Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.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.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.Transcription Factor 7-Like 2 Protein: A transcription factor that takes part in WNT signaling pathway. The activity of the protein is regulated via its interaction with BETA CATENIN. Transcription factor 7-like 2 protein plays an important role in the embryogenesis of the PANCREAS and ISLET CELLS.Confidence Intervals: A range of values for a variable of interest, e.g., a rate, constructed so that this range has a specified probability of including the true value of the variable.Receptor, Serotonin, 5-HT2A: A serotonin receptor subtype found widely distributed in peripheral tissues where it mediates the contractile responses of variety of tissues that contain SMOOTH MUSCLE. Selective 5-HT2A receptor antagonists include KETANSERIN. The 5-HT2A subtype is also located in BASAL GANGLIA and CEREBRAL CORTEX of the BRAIN where it mediates the effects of HALLUCINOGENS such as LSD.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.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Interleukin 1 Receptor Antagonist Protein: A ligand that binds to but fails to activate the INTERLEUKIN 1 RECEPTOR. It plays an inhibitory role in the regulation of INFLAMMATION and FEVER. Several isoforms of the protein exist due to multiple ALTERNATIVE SPLICING of its mRNA.Ferredoxin-NADP Reductase: An enzyme that catalyzes the oxidation and reduction of FERREDOXIN or ADRENODOXIN in the presence of NADP. EC 1.18.1.2 was formerly listed as EC 1.6.7.1 and EC 1.6.99.4.Steroid 17-alpha-Hydroxylase: A microsomal cytochrome P450 enzyme that catalyzes the 17-alpha-hydroxylation of progesterone or pregnenolone and subsequent cleavage of the residual two carbons at C17 in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP17 gene, generates precursors for glucocorticoid, androgen, and estrogen synthesis. Defects in CYP17 gene cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL) and abnormal sexual differentiation.Coronary Artery Disease: Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.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).Cytosine: A pyrimidine base that is a fundamental unit of nucleic acids.Body Mass Index: An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)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.Lupus Erythematosus, Systemic: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Expressed Sequence Tags: Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.Adenocarcinoma: A malignant epithelial tumor with a glandular organization.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.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.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.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.Apolipoproteins A: Structural proteins of the alpha-lipoproteins (HIGH DENSITY LIPOPROTEINS), including APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II. They can modulate the activity of LECITHIN CHOLESTEROL ACYLTRANSFERASE. These apolipoproteins are low in atherosclerotic patients. They are either absent or present in extremely low plasma concentration in TANGIER DISEASE.IranQuantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)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.Lipids: A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)Arthritis, Rheumatoid: A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.Receptors, IgG: Specific molecular sites on the surface of various cells, including B-lymphocytes and macrophages, that combine with IMMUNOGLOBULIN Gs. Three subclasses exist: Fc gamma RI (the CD64 antigen, a low affinity receptor), Fc gamma RII (the CD32 antigen, a high affinity receptor), and Fc gamma RIII (the CD16 antigen, a low affinity receptor).Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Interleukin-10: A cytokine produced by a variety of cell types, including T-LYMPHOCYTES; MONOCYTES; DENDRITIC CELLS; and EPITHELIAL CELLS that exerts a variety of effects on immunoregulation and INFLAMMATION. Interleukin-10 combines with itself to form a homodimeric molecule that is the biologically active form of the protein.Prostatic Neoplasms: Tumors or cancer of the PROSTATE.

*  September 2011 - Volume 26 - Issue - Contributor Index : International...
Genetic Polymorphism of the drug metabolizing enzyme CYP1A2 in schizophrenia patients ... COMT polymorphisms association with Schizophrenia in a Cuban family sample. Camacho, ... Biochemical, neuroanatomical and genetic factors of suicide. Gonda, Xenia; Fountoulakis, ... Genetic variation in dysbindin gene influences both the risk for functional psychosis and ......
http://journals.lww.com/intclinpsychopharm/pages/contributorindex.aspx?sort=asc&filter=B&year=2011&issue=09001
*  Familial adenomatous polyposis: more evidence for disease diversity and genetic...
single strand conformation polymorphism. DGGE. denaturing gradient gel electrophoresis. ... The genetic change is not a simple one as it involved the duplication of a 17 bp sequence ... The genetic basis of FAP was first localised in 1986 to chromosome 5q and the region ... The genetic basis of FAP has been shown to be primarily associated with germline ......
http://gut.bmj.com/content/48/4/508
*  Effect of telaprevir on the pharmacokinetics of cyclosporine and tacrolimus -...
Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the ......
http://onlinelibrary.wiley.com/doi/10.1002/hep.24443/references
*  Browse our ANTXR2 ELISA Kits
Anthrax Susceptibility: Human Genetic Polymorphisms Modulating ANTXR2 Expression * miR ( ... CMG2 glycosylation provides a buffer towards genetic variation by promoting folding of ......
http://antibodies-online.com/abstract/Anthrax Toxin Receptor 2
*  Browse our ADRB3 ELISA Kits
Genetic association of ADRB3 single nucleotide polymorphism with metabolic syndrome among ... We suggest that ADRB3 polymorphism has the potential to be an important genetic marker ... W64R Polymorphism in the adrenergic beta-3- receptor is not associated with obesity and ... ADRB2 (show ADRB2 ELISA Kits) Gln27Glu and ADRB3 Trp64Arg polymorphisms may influence ......
http://antibodies-online.com/camp-metabolic-process-pathway-59/adrb3-elisa-kit-670/
*  Associate Professor Howard Gurney - The University of Sydney
Association Analysis of Genetic Polymorphisms in Genes Related to Sunitinib ... Association Analysis of Genetic Polymorphisms in Genes Related to Sunitinib ... Environmental and Genetic Factors Affecting Transport of Imatinib by OATP1A2. Clinical ... Environmental and Genetic Factors Affecting Transport of Imatinib by OATP1A2. Clinical ......
http://sydney.edu.au/medicine/people/academics/profiles/howard.gurney.php
*  Isolate Data
Genetic diversity and naturally polymorphisms in HIV type 1 integrase isolates from ......
http://hivdb.stanford.edu/cgi-bin/GetIsolateData.cgi?IsolateID=235782
*  Scientists develop new method to predict aggressiveness of prostate cancer -...
Scientists have developed a new identification mechanism that can detect genetic ... relies on understanding the genetic interaction between single nucleotide polymorphisms ( ... Scientists have developed a new identification mechanism that can detect genetic ......
http://post.jagran.com/scientists-develop-new-method-to-predict-aggressiveness-of-prostate-cancer-1371904095
*  FRI0053 Analysis of associations between tumor necrosis factor-alpha (TNFA -308...
Methods Genetic polymorphism was determined in 274 RA patients who had been treated with ... Polymorphisms located within the TNFA promoter (-308 G,A, -238 G,A, -857 C,T) showed no ... Besides clinical factors, genetic predisposition, may be also helpful in that prediction. ... Gene polymorphisms were analyzed using a polymerase chain reaction (PCR) amplification ......
http://ard.bmj.com/content/72/Suppl_3/A386.1
*  Inflammasome polymorphisms and the Inflammatory Response to Bacterial Infections
Host genetic factors have been found an important determinants of susceptibility of ... 2. C10X polymorphism in the CARD8 gene is associated with bacteraemia. Open this ... Patients carrying polymorphism C10X in the CARD8 gene are at increased risk of developing ... Polymorphisms Q705K and C10X are two gene variants of the NLRP3 inflammasome that ......
http://oru.diva-portal.org/smash/record.jsf?pid=diva2:933624
*  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 of...
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 an...
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 i...
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 a...
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 Pu...
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 a suscep...
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 the...
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. 04/2...
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 TRI...
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 the...
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*. Thal...
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 enri...
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 cation...
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 simu...
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 L...
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. phosphor...
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 FetalTh...
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 rs19...
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 on...
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 Association...
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 1....
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 act...
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 Phar...
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. i...
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 develo...
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. TrigeminalGangli...
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 1....
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 sh...
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 S...
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, ADIPOR1...
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 curr...
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 Syste...
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 Haemostasi...
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 reposito...
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. Düss...
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 guiding ...
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 MY...
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 variants. 2008 : Meth...
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 a...
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 history....
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 cases a...
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 Frequ...
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 c...
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 was found ...
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 : locat...
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 HIV...
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 the...
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 i...
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 lliang hsph harvard edu ...
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 csnp...
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. C...
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. T...
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 neuron...
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 Supplementa...
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 m...
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 Gr...
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 >50% of the...
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 ne...
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 Single-Nuc...
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 expe...
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. Contact. Media. Sc...
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
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. PAPERS. All Papers. MY ALZFORUM. 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 P...
http://alzgene.org/default.asp?findKeyword=1&keyword=12192622
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. PAPERS. All Papers. MY ALZFORUM. 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 P...
http://alzgene.org/default.asp?findKeyword=1&keyword=19433657
*  AlzGene
... NEWSLETTER To search AlzGene, use the "Keyword" search on the AlzGene search page. AlzGene. PAPERS. All Papers. MY ALZFORUM. 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 P...
http://alzgene.org/default.asp?findKeyword=1&keyword=9878795
*  The importance of gene regulation for common human disease
... September 16, 2007 The importance of gene regulation for common human disease September 16, 2007 A new study published in Nature Genetics on Sunday 16 September 2007 show that common, complex diseases are more likely to be due to genetic variation in regions that control activity of genes, rather than in the regions that specify the protein code. This surprising result comes from a study at the Wellcome Trust Sanger Institute of the activity of almost 14,000 genes in 270 DNA samples collected for the HapMap Project. They found that activity of more than 1300 genes was affected by DNA sequence changes in regions predicted to be involved in regulating gene activity, which often lie close to, but outside, the protein-coding regions. "We predict that variants in regulatory regions make a greater contribution to complex disease than do variants that affect protein sequence," explained Dr Manolis Dermitzakis, senior author from the Wellcome Trust Sanger Institute. "One of the challenges of large-scale studies ...
http://phys.org/news/2007-09-importance-gene-common-human-disease.html
*  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. "Bertram, 2008 " APOC1. "Bertram, 2008 " APOE. "Bertram, 2008 " CD33. "Bertram, 2008 " GWA 14q31.2. The AlzGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in Alzheimer’s disease. 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. How to Cite Content on AlzGene : Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE. 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 C...
http://alzgene.org/default.asp?findKeyword=1&keyword=18976728
*  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. "Rodriguez-Rodriguez, 2007 " ABCA1. The AlzGene database provides a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in Alzheimer’s disease. 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... MTHFD1L LRAT FAM113B PCDH11X GWA 14q... ATXN1 ADAM10 CD36 DPYS ...
http://alzgene.org/default.asp?findKeyword=1&keyword=17510946
*  Variants in disease predisposition - Humpath.com - Human pathology
variants in disease predisposition humpath com human pathology humpath com human pathology a molecular pathology b cellular pathology c tissular pathology d systemic pathology e pathology by systems f pathology by regions g tumoral pathology h case records j books k info admin resources in pathology technical section home keywords proteins variants in disease predisposition variants in disease predisposition varainst in disease susceptibility articles erap november sdc january tlr january fcgr a may ece may myo b march med october il r december park december ormdl july search other keywords in this group activated in tumors amplified in tumors autoimmunity targets cancer gene cds deleted in human disease diagnostic antibodies druggable functional proteic groups fusion proteins human evolution hypermethylated in tumors hypomethylated in tumors inactivated in tumors involved in translocations locus malformation genes mutant protein mutated in human diseases mutated in tumors other groups of keywords agents bann...
http://humpath.com/spip.php?mot181&debut_articles=30

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.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.Thermal cyclerSingle-strand conformation polymorphism: Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions. This property allows sequences to be distinguished by means of gel electrophoresis, which separates fragments according to their different conformations.Disequilibrium (medicine): Disequilibrium}}Genetic variation: right|thumbDNA 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).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.Coles PhillipsQRISK: 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.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.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.Layout 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).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.Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.Chromosome regionsMicrosatellite: 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.Population 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.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.Genetic 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.Panmixia: Panmixia (or panmixis) means random mating.King C and Stanfield W.Bacterial glutathione transferase: Bacterial glutathione transferases (GSTs; EC 2.5.Niigata UniversityBranching 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.Intron: right|thumbnail|270px|Representation of intron and [[exons within a simple gene containing a single intron.]]DNA condensation: DNA condensation refers to the process of compacting DNA molecules in vitro or in vivo. Mechanistic details of DNA packing are essential for its functioning in the process of gene regulation in living systems.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.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".Codon Adaptation Index: The Codon Adaptation Index (CAI) is the most widespread technique for analyzing Codon usage bias. As opposed to other measures of codon usage bias, such as the 'effective number of codons' (Nc), which measure deviation from a uniform bias (null hypothesis), CAI measures the deviation of a given protein coding gene sequence with respect to a reference set of genes.Homing endonuclease: The homing endonucleases are a collection of endonucleases encoded either as freestanding genes within introns, as fusions with host proteins, or as self-splicing inteins. They catalyze the hydrolysis of genomic DNA within the cells that synthesize them, but do so at very few, or even singular, locations.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.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 asPedigree 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.Funding bias: Funding bias, also known as sponsorship bias, funding outcome bias, funding publication bias, and funding effect, refers to the tendency of a scientific study to support the interests of the study's financial sponsor. This phenomenon is recognized sufficiently that researchers undertake studies to examine bias in past published studies.Yi Byeong-cheon: Yi Byeong-cheon (Hangeul: 이병천, also spelled Lee Byeong-chun, born January 5, 1965) is the veterinary professor at Seoul National University responsible for the ₩300 million KRW "Toppy" dog cloning program. Yi is a former aide to Hwang Woo-suk, a pioneer in the field with the "Snuppy" clone, who fell from grace after his stem cell research turned out to have been fabricated.Molecular 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.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".Point mutationMissense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Tandem repeat: Tandem repeats occur in DNA when a pattern of one or more nucleotides is repeated and the repetitions are directly adjacent to each other. Several protein domains also form tandem repeats within their amino acid primary structure, such as Armadillo repeats.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.Levomefolic acidTamil Nadu Dr. M.G.R. Medical UniversityOutline of diabetes: The following outline is provided as an overview of and topical guide to diabetes:List of butterflies of Tunisia: This is a list of butterflies of Tunisia. About 84 species are known from Tunisia.Valine N-monooxygenase: Valine N-monooxygenase (, CYP79D1, CYP79D2) is an enzyme with system name L-valine,NADPH:oxygen oxidoreductase (N-hydroxylating). This enzyme catalyses the following chemical reactionPanitumumabThree prime untranslated region: In molecular genetics, the three prime untranslated region (3'-UTR) is the section of messenger RNA (mRNA) that immediately follows the translation termination codon. An mRNA molecule is transcribed from the DNA sequence and is later translated into protein.Breast cancer classification: Breast cancer classification divides breast cancer into categories according to different schemes, each based on different criteria and serving a different purpose. The major categories are the histopathological type, the grade of the tumor, the stage of the tumor, and the expression of proteins and genes.Katowice International Fair: Katowice International Fair () is an international trade fair in Katowice and one of the largest in Poland (the largest being the Poznań International Fair). Few dozen events are organized there each year, with the participation of some 4,500 companies.Soyasapogenol glucuronosyltransferase: Soyasapogenol glucuronosyltransferase (, UGASGT) is an enzyme with system name UDP-D-glucuronate:soyasapogenol 3-O-D-glucuronosyltransferase. This enzyme catalyses the following chemical reaction

(1/24239) Standardized nomenclature for inbred strains of mice: sixth listing.

Rules for designating inbred strains of mice are presented, along with a list of strains with their origins and characteristics, a table of biochemical polymorphisms, and standard subline designations.  (+info)

(2/24239) Hidden genetic variability within electromorphs in finite populations.

The amount of hidden genetic variability within electromorphs in finite populations is studied by using the infinite site model and stepwise mutation model simultaneously. A formula is developed for the bivariate probability generating function for the number of codon differences and the number of electromorph state differences between two randomly chosen cistrons. Using this formula, the distribution as well as the mean and variance of the number of codon differences between two identical or nonidentical electromorphs are studied. The distribution of the number of codon differences between two randomly chosen identical electromorphs is similar to the geometric distribution but more leptokurtic. Studies are also made on the number of codon differences between two electromorphs chosen at random one from each of two populations which have been separated for an arbitrary number of generations. It is shown that the amount of hidden genetic variability is very large if the product of effective population size and mutation rate is large.  (+info)

(3/24239) Lack of genic similarity between two sibling species of drosophila as revealed by varied techniques.

Acrylamide gel electrophoresis was performed on the enzyme xanthine dehydrogenase in sixty isochromosomal lines of Drosophila persimilis from three geographic populations. Sequential electrophoretic analysis using varied gel concentrations and buffers revealed twenty-three alleles in this species where only five had been described previously. These new electrophoretic techniques also detected a profound increase in divergence of gene frequencies at this locus between D. persimilis and its sibling species D. pseudoobscura. The implications of these results for questions of speciation and the maintenance of genetic variability are discussed.  (+info)

(4/24239) Genetic heterogeneity within electrophoretic "alleles" of xanthine dehydrogenase in Drosophila pseudoobscura.

An experimental plan for an exhaustive determination of genic variation at structural gene loci is presented. In the initial steps of this program, 146 isochromosomal lines from 12 geographic populations of D. pseudoobscura were examined for allelic variation of xanthine dehydrogenase by the serial use of 4 different electrophoretic conditions and a head stability test. The 5 criteria revealed a total of 37 allelic classes out of the 146 genomes examined where only 6 had been previously revealed by the usual method of gel electrophoresis. This immense increase in genic variation also showed previously unsuspected population differences between the main part of the species distribution and the isolated population of Bogota population. The average heterozygosity at the Xdh locus is at least 72% in natural populations. This result, together with the very large number of alleles segregating and the pattern of allelic frequencies, has implications for theories of genetic polymorphism which are discussed.  (+info)

(5/24239) Polymorphism in a cyclic parthenogenetic species: Simocephalus serrulatus.

A survey of sixteen isozyme loci using electrophoretic techniques was conducted for three isolated natural populations and one laboratory population of the cyclic parthenogenetic species, Simocephalus serrulatus. The proportion of polymorphic loci (33%-60%) and the average number of heterozygous loci per individual (6%-23%) in the three natural populations were found to be comparable to those found in most sexually reproducing organisms. Detailed analyses were made for one of these populations using five polymorphic loci. The results indicated that (1) seasonal changes in genotypic frequencies took place, (2) apomicitic parthenogenesis does not lead to genetic homogeneity, and (3) marked gametic disequilibrium at these five loci was present in the population, indicating that selection acted on coadapted groups of genes.  (+info)

(6/24239) Testing for selective neutrality of electrophoretically detectable protein polymorphisms.

The statistical assessment of gene-frequency data on protein polymorphisms in natural populations remains a contentious issue. Here we formulate a test of whether polymorphisms detected by electrophoresis are in accordance with the stepwise, or charge-state, model of mutation in finite populations in the absence of selection. First, estimates of the model parameters are derived by minimizing chi-square deviations of the observed frequencies of genotypes with alleles (0,1,2...) units apart from their theoretical expected values. Then the remaining deviation is tested under the null hypothesis of neutrality. The procedure was found to be conservative for false rejections in simulation data. We applied the test to Ayala and Tracey 's data on 27 allozymic loci in six populations of Drosophila willistoni . About one-quarter of polymorphic loci showed significant departure from the neutral theory predictions in virtually all populations. A further quarter showed significant departure in some populations. The remaining data showed an acceptable fit to the charge state model. A predominating mode of selection was selection against alleles associated with extreme electrophoretic mobilities. The advantageous properties and the difficulties of the procedure are discussed.  (+info)

(7/24239) Mining SNPs from EST databases.

There is considerable interest in the discovery and characterization of single nucleotide polymorphisms (SNPs) to enable the analysis of the potential relationships between human genotype and phenotype. Here we present a strategy that permits the rapid discovery of SNPs from publicly available expressed sequence tag (EST) databases. From a set of ESTs derived from 19 different cDNA libraries, we assembled 300,000 distinct sequences and identified 850 mismatches from contiguous EST data sets (candidate SNP sites), without de novo sequencing. Through a polymerase-mediated, single-base, primer extension technique, Genetic Bit Analysis (GBA), we confirmed the presence of a subset of these candidate SNP sites and have estimated the allele frequencies in three human populations with different ethnic origins. Altogether, our approach provides a basis for rapid and efficient regional and genome-wide SNP discovery using data assembled from sequences from different libraries of cDNAs.  (+info)

(8/24239) Adducin polymorphism affects renal proximal tubule reabsorption in hypertension.

Abnormalities in renal sodium reabsorption may be involved in the development and maintenance of experimental and clinical hypertension. Adducin polymorphism is thought to regulate ion transport in the renal tubule. It has recently been shown that there is a significant linkage of alpha-adducin locus to essential hypertension and that the 460Trp allele is associated with hypertension. Patients with this allele display larger blood pressure changes with body sodium variation. The aim of this study was to test whether alpha-adducin polymorphism is involved in abnormalities of renal function. Because proximal tubular reabsorption has been shown to be tightly coupled to renal perfusion pressure, this segmental tubular function was investigated in 54 (29 Gly/Gly and 25 Gly/Trp) untreated hypertensive patients in basal conditions with the use of endogenous lithium concentration and uric acid. Fractional excretions of lithium and uric acid were significantly decreased in the Gly/Trp hypertensive patients compared with the Gly/Gly hypertensives. The contribution of alpha-adducin to fractional excretion of lithium was investigated by multiple regression analysis. Adducin genotype was significantly (R2=0.11, F=6.5; P<0.01) and directly related to fraction excretion of lithium; gender, age, urinary Na+, urinary uric acid, mean blood pressure, and plasma renin activity were not related. In conclusion, the adducin gene can be considered to be a 'renal hypertensive gene' that modulates the capacity of tubular epithelial cells to transport Na+ and hence contributes to the level of blood pressure.  (+info)


Can someone give me a rare genetic disorder to write a paper on?


I need to write a paper on a genetic disorder. It has to be something not in my biology book so that's why I want a rare one. Can anyone list some? Perhaps some interesting ones? Thanks.
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MY TOP 3 FAVORITE GENETIC DISORDERS I LEARNED ABOUT IN MED SCHOOL:
1. Alkaptonuria- when your pee turns black when exposed to air
2. Huntington's- when people have abnormal jerky body movements
3. Pseudoxanthoma elasticum- when a 20 year old person has the lose  skin of an 80 year old

Good Luck!


What is a lethal genetic disease that starts in teen years?


I'm writing a story where the main character is in her mid-teen years. She is diagnosed with a genetic disease that will kill her in 2-3 years. I need to know of a genetic disease/mutation that would begin to show symptoms at 13-17 years and results in death a few years later. Thank you for any help!
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Diseases that are diagnosed later in life generally aren't genetic. If you want to change your story a little she could have cystic fibrosis (CF) but if she wasn't diagnosed when she was a baby it would be a really mild case and it wouldn't kill her in 2-3 years.


How many genetic diseases can be tested for?


I'm wondering how many genetic tests they are able to test for. I know there are already over 1300 different tests available, but how many diseases are there that can be tested for?
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many genetic diseases can be tested. Here's the situation. I have cystic fibrosis. There are over 1600 DNA mutations for this illness, any of them can be a diagnosis of this illness. this is just chrome 7. there can be other mutations to chrome 7 for other illnesses, ie candida predisposition, something like that. most hosp/clinics will initially test for the most common mutations and are limited to the 32 most common mutations, pt can fall outside that area. I did. the 23/32 most common were negative. further testing proved that. It was expensive, $1150. out of pocket. took about a month.



For amniotic screening, many genetic diseases can be tested, most common are tested for unless known family hx and specific testing is requested. Ambry genetics does mostly cystic fibrosis.


What kind of genetic liver disease can cause the same symptoms as shaken baby syndrom?


What kind of genetic liver disease can cause abnormal bleeding and bruises? Especially in infants?
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Any liver disease can cause a symptom such as shaken baby syndrome.

When the liver cells become damaged, the immune system of the body
responds to this damage and causes inflammation inside the liver,
which causes the liver to enlarge in size.  If the cause cannot be stopped,
it will proceed to where the liver cells start to die off and form scar 
tissue inside the liver.  The scar tissue then blocks the flow of
blood through the liver on its way back to the heart and also blocks
the flow of the blood to the other liver cells, so they continue to die off.
This is known as Cirrhosis of the liver. 

People who have less liver functions can develop, what is known as
Encephalopathy.  This is because the liver isn't able to convert 
ammonia, which is a product that is produced when our body uses
protein, into urea so that it will be removed from the body in the urine.
The ammonia can pass the blood brain barrier and go into the brain.
It cause confusion, disorientation, sleep pattern changes, and tremors.

Because the liver cells have died off, then the liver may not be able
to make clotting factors, efficiently,  that help the blood to clot.  
This can cause easy bruising and bleeding. 

Genetic liver diseases:
Hemachromatosis...where the body tends to hold onto too much iron
Wilson disease...where the body tends to hold onto too much copper
Alpha1-antitrypsin deficiency where is the absence of this specific enzyme in the liver
Glycogen storage disease where there is an inability to properly utilize sugar
Biliary problems like BILIARY ATRESIA were the bile ducts are absent or injured,
congentital biliary cysts.  
Phenylketonuria where the baby is born without the ability to properly break down
this amino acid.
Crigler Najjar syndrome where the liver cannot process bilirubin
And other inherited disorders where there is interferance with the way the liver
produces, processes and stores enzymes, proteins, metals and other substances. 

It is best that the patient be with either a gastroenterologist (deals with the
entire digestive system or hepatologist (liver specialist).

I hope this information has been of some help to you.  Best wishes


How important is genetic screening for IVF babies?


IVF babies are at an increased risk of genetic disorders in future. As per British Infertility Society, there is a 26 % increased chance of the IVF babies to suffer from a genetic problem. Therefore Genetic Screening, also known as Newborn Genetic Screening is of utmost importance after the birth.
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Is that the only study you've found that supports this? I did a lot of research before I went through IVF and didn't find anything. I also had a this discussion with  my 3 doctors- my family doc, my ob and my RE and all were sure that there is no higher risk. IVF has been around for a long time (30 something) and if this were the case, you'd find a lot more studies supporting your statement. Just because 1 studies was done and found something doesn't mean anything. For me to believe this I'd have to see multiple studies with the same outcome. I DO NOT believe this to be true. Did it even say what genetic problems they'd suffer from? Do you have a link to this?


How much does genetic testing cost in Canada?


I'm from canada and my  husband and I are interested in genetic testing to help us decide whether or not to have kids (we both have mental illness in the family, as well as heart problems and autism run in his family). Does anyone have any idea how much it costs? 
Feel free to answer even if you're not from canada, but please let me know what country you live in.
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The cost may vary depending on what you wish to screen for. 

As for the previous reply, one must understand that there is a precentage of autism cases that are a result of genetics, such as Fragile X Syndrome (FMR1 gene), Rett Syndrome (females only) and a few others. 

The link below is for labs in Canada that do testing. You may be able to connect with labs in your area and direct the question to them. 

You might also want to connect with a hospital who has genetic counseling in your area, they may be able to provide you with more detail.  Good luck.


What is the difference between a genetic disease and other diseases/conditions?


Can you catch a genetic disease?
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A genetic disease is a disease that you can only inherit from your parents' DNA. Symptoms of genetic conditions may be present at birth, or may appear over time. There are many different types of genetic diseases. Genetic diseases are not contagious like other diseases/infections. For instance, a cold is a contagious condition that you can catch from someone.  It is not a genetic illness.  Muscular dystrophy is a genetic condition that is not contagious.  You can not catch muscular dystrophy from someone.


What support groups and genetic counselors are there for the genetic disorder: familial hypercholesterolemia?


We are a group of high school students who need to contact a genetic counselor or support group about familial hypercholesterolemia for a biology project. Are there any genetic counselors or groups that you know of?
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Couldn't find any support groups, but I found the NSGC (National Society of Genetic Counselors) website www.nsgc.org.  The menu on the left allows you to search for genetic counselors by specialty or by geography.  Hope that helps.  Sorry I couldn't find a support group!