Genetic Variation: Genotypic differences observed among individuals in a population.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.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.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.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.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.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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)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).Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.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.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.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.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.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Gene Flow: The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.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.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.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.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.Antigenic Variation: Change in the surface ANTIGEN of a microorganism. There are two different types. One is a phenomenon, especially associated with INFLUENZA VIRUSES, where they undergo spontaneous variation both as slow antigenic drift and sudden emergence of new strains (antigenic shift). The second type is when certain PARASITES, especially trypanosomes, PLASMODIUM, and BORRELIA, survive the immune response of the host by changing the surface coat (antigen switching). (From Herbert et al., The Dictionary of Immunology, 4th ed)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.Inbreeding: The mating of plants or non-human animals which are closely related genetically.Genetic Drift: The fluctuation of the ALLELE FREQUENCY from one generation to the next.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Phylogeography: A field of study concerned with the principles and processes governing the geographic distributions of genealogical lineages, especially those within and among closely related species. (Avise, J.C., Phylogeography: The History and Formation of Species. Harvard University Press, 2000)Environment: The external elements and conditions which surround, influence, and affect the life and development of an organism or population.Breeding: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.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.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.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.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.China: A country spanning from central Asia to the Pacific Ocean.Population Dynamics: The pattern of any process, or the interrelationship of phenomena, which affects growth or change within a population.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Population Density: Number of individuals in a population relative to space.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.Principal Component Analysis: Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.Ecosystem: A functional system which includes the organisms of a natural community together with their environment. (McGraw Hill Dictionary of Scientific and Technical Terms, 4th 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.Homozygote: An individual in which both alleles at a given locus are identical.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Reproduction: The total process by which organisms produce offspring. (Stedman, 25th ed)Seasons: Divisions of the year according to some regularly recurrent phenomena usually astronomical or climatic. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Adaptation, Biological: Changes in biological features that help an organism cope with its ENVIRONMENT. These changes include physiological (ADAPTATION, PHYSIOLOGICAL), phenotypic and genetic changes.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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.Mimulus: A plant genus of the family Phrymaceae. Members contain 6-geranylflavanones and mimulone.EuropeAdaptation, Physiological: The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.Population: The total number of individuals inhabiting a particular region or area.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.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.Multifactorial Inheritance: A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.Catechol O-Methyltransferase: Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Bayes Theorem: A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.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.Genomic Structural Variation: Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.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.Endangered Species: An animal or plant species in danger of extinction. Causes can include human activity, changing climate, or change in predator/prey ratios.Trees: Woody, usually tall, perennial higher plants (Angiosperms, Gymnosperms, and some Pterophyta) having usually a main stem and numerous branches.Genetic Structures: The biological objects that contain genetic information and that are involved in transmitting genetically encoded traits from one organism to another.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Time Factors: Elements of limited time intervals, contributing to particular results or situations.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.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).Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.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.Mating Preference, Animal: The selection or choice of sexual partner in animals. Often this reproductive preference is based on traits in the potential mate, such as coloration, size, or behavioral boldness. If the chosen ones are genetically different from the rejected ones, then NATURAL SELECTION is occurring.Genetic Fitness: The capability of an organism to survive and reproduce. The phenotypic expression of the genotype in a particular environment determines how genetically fit an organism will be.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Body Size: The physical measurements of a body.Islands: Tracts of land completely surrounded by water.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Genetic Speciation: The splitting of an ancestral species into daughter species that coexist in time (King, Dictionary of Genetics, 6th ed). Causal factors may include geographic isolation, HABITAT geometry, migration, REPRODUCTIVE ISOLATION, random GENETIC DRIFT and MUTATION.DNA, Chloroplast: Deoxyribonucleic acid that makes up the genetic material of CHLOROPLASTS.AfricaComputer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.Animals, Inbred Strains: Animals produced by the mating of progeny over multiple generations. The resultant strain of animals is virtually identical genotypically. Highly inbred animal lines allow the study of certain traits in a relatively pure form. (Segen, Dictionary of Modern Medicine, 1992)Genetic Pleiotropy: A phenomenon in which multiple and diverse phenotypic outcomes are influenced by a single gene (or single gene product.)Demography: Statistical interpretation and description of a population with reference to distribution, composition, or structure.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.HapMap Project: A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.Sexual Behavior, Animal: Sexual activities of animals.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Ecology: The branch of science concerned with the interrelationship of organisms and their ENVIRONMENT, especially as manifested by natural cycles and rhythms, community development and structure, interactions between different kinds of organisms, geographic distributions, and population alterations. (Webster's, 3d ed)Pinus: A plant genus in the family PINACEAE, order Pinales, class Pinopsida, division Coniferophyta. They are evergreen trees mainly in temperate climates.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.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.Climate: The longterm manifestations of WEATHER. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)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.Models, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Likelihood Functions: Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.Genealogy and HeraldryGenes, Plant: The functional hereditary units of PLANTS.Flowers: The reproductive organs of plants.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.Fertility: The capacity to conceive or to induce conception. It may refer to either the male or female.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Host-Parasite Interactions: The relationship between an invertebrate and another organism (the host), one of which lives at the expense of the other. Traditionally excluded from definition of parasites are pathogenic BACTERIA; FUNGI; VIRUSES; and PLANTS; though they may live parasitically.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.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.Genes, Insect: The functional hereditary units of INSECTS.Linear Models: Statistical models in which the value of a parameter for a given value of a factor is assumed to be equal to a + bx, where a and b are constants. The models predict a linear regression.Population Groups: Individuals classified according to their sex, racial origin, religion, common place of living, financial or social status, or some other cultural or behavioral attribute. (UMLS, 2003)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.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.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)Cytochromes b: Cytochromes of the b group that have alpha-band absorption of 563-564 nm. They occur as subunits in MITOCHONDRIAL ELECTRON TRANSPORT COMPLEX III.Circadian Rhythm: The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.IndiaConservation of Natural Resources: The protection, preservation, restoration, and rational use of all resources in the total environment.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Observer Variation: The failure by the observer to measure or identify a phenomenon accurately, which results in an error. Sources for this may be due to the observer's missing an abnormality, or to faulty technique resulting in incorrect test measurement, or to misinterpretation of the data. Two varieties are inter-observer variation (the amount observers vary from one another when reporting on the same material) and intra-observer variation (the amount one observer varies between observations when reporting more than once on the same material).United StatesButterflies: Slender-bodies diurnal insects having large, broad wings often strikingly colored and patterned.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.Nutrigenomics: The study of the relationship between NUTRITIONAL PHYSIOLOGY and genetic makeup. It includes the effect of different food components on GENE EXPRESSION and how variations in GENES effect responses to food components.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Ecotype: Geographic variety, population, or race, within a species, that is genetically adapted to a particular habitat. An ecotype typically exhibits phenotypic differences but is capable of interbreeding with other ecotypes.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.Plant Leaves: Expanded structures, usually green, of vascular plants, characteristically consisting of a bladelike expansion attached to a stem, and functioning as the principal organ of photosynthesis and transpiration. (American Heritage Dictionary, 2d ed)Pan troglodytes: The common chimpanzee, a species of the genus Pan, family HOMINIDAE. It lives in Africa, primarily in the tropical rainforests. There are a number of recognized subspecies.Smegmamorpha: Group of fish under the superorder Acanthopterygii, separate from the PERCIFORMES, which includes swamp eels, mullets, sticklebacks, seahorses, spiny eels, rainbowfishes, and KILLIFISHES. The name is derived from the six taxa which comprise the group. (From http://www.nanfa.org/articles/Elassoma/elassoma.htm, 8/4/2000)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.Cistus: A plant genus of the family CISTACEAE. The common name of rock rose is also sometimes used with the closely related Helianthemum genus (CISTACEAE).Mice, Inbred Strains: Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.Pigmentation: Coloration or discoloration of a part by a pigment.Heredity: The transmission of traits encoded in GENES from parent to offspring.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)JapanAfrican Americans: Persons living in the United States having origins in any of the black groups of Africa.Dalbergia: A plant genus of the family FABACEAE. Members of this genus can cause CONTACT DERMATITIS.Seeds: The encapsulated embryos of flowering plants. They are used as is or for animal feed because of the high content of concentrated nutrients like starches, proteins, and fats. Rapeseed, cottonseed, and sunflower seed are also produced for the oils (fats) they yield.Daphnia: A diverse genus of minute freshwater CRUSTACEA, of the suborder CLADOCERA. They are a major food source for both young and adult freshwater fish.Cattle: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.Quercus: A plant genus of the family FAGACEAE that is a source of TANNINS. Do not confuse with Holly (ILEX).Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.Asia: The largest of the continents. It was known to the Romans more specifically as what we know today as Asia Minor. The name comes from at least two possible sources: from the Assyrian asu (to rise) or from the Sanskrit usa (dawn), both with reference to its being the land of the rising sun, i.e., eastern as opposed to Europe, to the west. (From Webster's New Geographical Dictionary, 1988, p82 & Room, Brewer's Dictionary of Names, 1992, p34)South AmericaTemperature: The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.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.Arabidopsis: A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.Longevity: The normal length of time of an organism's life.Mutation Rate: The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.Continental Population Groups: Groups of individuals whose putative ancestry is from native continental populations based on similarities in physical appearance.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)DNA, Ribosomal Spacer: The intergenic DNA segments that are between the ribosomal RNA genes (internal transcribed spacers) and between the tandemly repeated units of rDNA (external transcribed spacers and nontranscribed spacers).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.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.Animals, Wild: Animals considered to be wild or feral or not adapted for domestic use. It does not include wild animals in zoos for which ANIMALS, ZOO is available.Beetles: INSECTS of the order Coleoptera, containing over 350,000 species in 150 families. They possess hard bodies and their mouthparts are adapted for chewing.Human Genome Project: A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.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.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)LizardsCentral AmericaGene Pool: The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.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.Genome, Insect: The genetic complement of an insect (INSECTS) as represented in its DNA.5' Flanking Region: The region of DNA which borders the 5' end of a transcription unit and where a variety of regulatory sequences are located.Costa RicaPanamaEnzymes: Biological molecules that possess catalytic activity. They may occur naturally or be synthetically created. Enzymes are usually proteins, however CATALYTIC RNA and CATALYTIC DNA molecules have also been identified.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.

*  .. Author: 23andMe .. A Reference of Human Genetic Variation .. New Findings On Female Infertility
Reference of Human Genetic Variation 0 comments Published by ... new papers on human genetic variation published in the journal ... , Adam Auton , Genetic variation , human genetic variation , ... from strangers, genetic genealogist CeCe Moore and DNA testing ... Author: 23andMe .. A Reference of Human Genetic Variation .. New Findings On Female Infertility...
http://blog.23andme.com/author/23andme/
*  Mitochondria Phenome Knowledgebase
understanding how genetic variation among individuals contributes ... into genes and genetic variation and their effects on clinical...
http://mitophenome.org/
*  TcSNP
trypanosoma cruzi genetic variation home tcsnp guide ... with information on genetic variation polymorphisms mutations for...
http://snps.tcruzi.org/
*  Medical Xpress - genetic variation
Medical Xpress - genetic variation. Home genetic variation. ... News tagged with genetic variation. sort by:. Date. 6 hours ... · genome · nature genetics · human genetics · gene variant. ... 2015 95 1 feature. Genetics. Genetic variants associated with ... study strengthens genetic link to obesity. There are many ... Feb 11, 2015 76 1. Genetics. Thousands of never-before-seen human ... Oct 05, 2014 0 5. Genetics. ... Medical Xpress - genetic variation. Home genetic variation. News tagged with genetic variation. 1 week. 1 week. 1 week. Related topics: genes · genome · nature genetics · human genetics · gene variant. Neuroscience. Genetics. Genetic variants associated with major depressive disorder have been identified. Medical Xpress —A very large team of researchers made up mostly of members in China and calling itself the CONVERGE consortium, has identified two genetic variants that appear to be associated with major depressive disorder ... Overweight and Obesity. Largest ever genome-wide ...
http://medicalxpress.com/tags/genetic variation/sort/rank/all/
*  Browsing School of Medicine by Subject "Genetic Variation"
by subject genetic variation   search ... by subject genetic variation archie digital collections ... by subject genetic variation a b c d e f g h...
http://archie.kumc.edu/handle/2271/576/browse?value=Genetic Variation&type=subject
*  Department of Biological Chemistry, UCLA | Department of Biological Chemistry, UCLA
Cell Signaling Epigenetics, Gene Regulation, and Genome Dynamics Genetic Variation and Disease Neurobiology Stem ... Cell Signaling. Epigenetics, Gene Regulation and Genome Dynamics. Genetic Variation and Disease. Neurobiology....
http://biolchem.ucla.edu/
*  Medical Xpress - genetic variation
Medical Xpress - genetic variation. Home genetic variation. ... News tagged with genetic variation. sort by:. Date. 6 hours ... · genome · nature genetics · human genetics · gene variant....
http://medicalxpress.com/tags/genetic variation/sort/date/3d/
*  1000 Genomes Project: Cataloging Human Genetic Variation (excerpt) | Einstein Multimedia
: Cataloging Human Genetic Variation excerpt. Einstein Multimedia ... : Cataloging Human Genetic Variation excerpt Statistical geneticist Adam Auton, Ph.D., a collaborator on ... 1000 Genomes Project: Cataloging Human Genetic Variation excerpt. Einstein Multimedia. Education. Health. Loading the player ... Policy. 1000 Genomes Project: Cataloging Human Genetic Variation excerpt Statistical geneticist Adam Auton, Ph.D., a collaborator on the 1000 Genomes Project, explains the goals of the global research study and shares some of the group's early findings. Dr. Auton is an assistant professor of genetics at Einstein. This edition of Einstein On, a research and medicine podcast, is hosted by Paul Moniz, managing director of communications and marketing at Einstein. Einstein On: Antibiotic Resistance, Dr. Einstein On: Premature Babies, Dr. Student Interviews: Why I Want to be a Doctor 2:03. Choosing Einstein 9:46. Medical Education at Einstein 19:13. Science Talk: Antibiotics May Thwart Sickle Cell Crisis 3:50. ...
http://einstein.yu.edu/video/Default.asp?VID=716&categoryID=749&ts=about&tsp=related
*  .. Welcome to the Department of Pharmacology and Toxicology .. Researchers find link between geneti
find link between genetic variation and alcohol dependence. Read ... welcome to the department of pharmacology and toxicology the department is home to a community of researchers students and faculty who strive to improve the treatment of medical disorders through a better understanding of the pharmacology of agents and by developing safer and more effectiveâ drugs â currently ranked thirteenthâ among national institutes of health funded pharmacology and toxicology programs in the u s the department hasâ educated alumni who have gone on to distinguished careers in government academia and the private sector as researchers educators and consultants the work our students do at vcu and beyond has the potential to improve the health and well being of people all over the world researchers find link between genetic variation and alcohol dependence read story here read article here departmental seminar october mark malkin m d director neuro oncology program department of neurology virginia commonwealth university ri...
https://pharmtox.vcu.edu/
*  Relative importance of plant ontogeny, host genetic variation, and leaf age for a common herbivore
ontogeny, host genetic variation, and leaf age for a common ... ontogeny, host genetic variation, and leaf age for a common ... ontogeny, host genetic variation, and leaf age for a common ... Relative importance of plant ontogeny, host genetic variation, and leaf age for a common herbivore - Library Open Repository. Library. Search UTAS. Study with UTAS I am a: Future Student Domestic. Library. Research at UTAS Research Our Research. Community. Giving to UTAS. About UTAS. Library. Repository Home. Library Home. Statistics. Browse. Library Open Repository. Relative importance of plant ontogeny, host genetic variation, and leaf age for a common herbivore. Altmetric Altmetric Altmetric. Download Statistics Download Statistics Download Statistics. Lawrence, R and Potts, BM and Whitham, TG 2003 Relative importance of plant ontogeny, host genetic variation, and leaf age for a common herbivore. Abstract Using an experimental eucalypt forest of known pedigree and laboratory feeding trials, we examined the r...
http://eprints.utas.edu.au/7319/
*  Limited genetic diversity of the Tasmanian Tiger sheds light on species’ geographic isolation | Th
Limited genetic diversity of the Tasmanian Tiger sheds light on species’ geographic isolation. The Melbourne Newsroom. Search form Search. The Melbourne Newsroom. MEDIA RELEASES UP CLOSE VISIONS VOICE STUDIO. Department of Defense funds Australian research into inflammatory bowel disease. Loneliness, severe mental illness behind frequent calls to crisis helplines. University of Melbourne remains #1 in Australia. Close Ocean scientists look into the past to predict Australia’s climate future. Doctors reduce risk-taking behaviour in teens and young people. Leading University of Melbourne researchers honoured by NHMRC. More media releases. Weeds girdle the globe: The marauding march of invasive plant species. Superdiversity: Policy challenges in an age of unprecedented migration. Wild and domestic: A cultural history of human-animal relations. Close Innovation with purpose: Organizations creating and delivering social value. Disciples of the interdisciplinary: Researchers crossing boundaries to unleash creativit...
http://newsroom.melbourne.edu/news/n-794
*  Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population. | Br
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population. 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 Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population. 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 neu...
http://broadinstitute.org/publications/broad5949
*  evolution - Features in individuals causing high population variation - 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. Features in individuals causing high population variation. As I understand it, a population with high variation is something sought after, since it makes the population better equipped to face a dynamic environment. Then, I guess features in an individual which causes it's population's variation to be high, should be selected for high mutation rate, other features.. With genetic difference within reason, perhaps a norm for a proffered genetic difference between individuals. evolution share. edited Jun 19 '12 at 7:58. Assuming a population lives in a highly dynamic environment and mutation is the only source introducing variation. Some in the population has genes that code for a slow mutation rate and the others have has gen...
http://biology.stackexchange.com/questions/2678/features-in-individuals-causing-high-population-variation
*  Genetic variation
... right|thumb thumb|Darwin's finches or Galapagos finches. 2011 : Genetics of populations. F 1999 : The genetics of human populations. 1970 : Populations, species, and evolution – An abridgment of Animal species and evolution. 1970 : Genetics of the evolutionary process. Genetic variation among individuals within a population can be identified at a variety of levels. It is possible to identify genetic variation from observations of phenotypic variation in either quantitative traits traits that vary continuously and are coded for by many genes, e.g., leg length in dogs or discrete traits traits that fall into discrete categories and are coded for by one or a few genes e.g., white, pink, red petal color in certain flowers. Genetic variation will result in phenotypic variation if variation in the order of nucleotides in the DNA sequence results in a difference in the order of amino acid s in proteins coded by that DNA sequence, and if the resultant differences in amino acid sequence influence the shape, and t...
https://en.wikipedia.org/wiki/Genetic_variation
*  PLOS Genetics: Lessons from Model Organisms: Phenotypic Robustness and Missing Heritability in Compl
... ex Disease. PLOS Genetics. Other Article Types. Manuscript Review and Publication. Editorial and Peer Review Process. Reviewer Guidelines. Article-Level Metrics. View. Sum of PLOS and PubMed Central page views and downloads. Open Access Review. Lessons from Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease. Published: November 15, 2012 DOI: 10.1371/journal.pgen.1003041. Article. In diverse model organisms, phenotypic robustness differs among individuals, and those with decreased robustness show increased penetrance of mutations and express previously cryptic genetic variation. doi:10.1371/journal.pgen.1003041 Editor: Susan M. The funders had no role in the preparation of the article. By their nature, rare variants are difficult to detect and to associate with phenotype using statistics. An alternative view posits that cryptic genetic variation accounts for a substantial fraction of disease-associated risk. In contrast, in individuals with decreased overall phenotypic robus...
http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003041
*  How illness-linked genetic variation affects neurons in the developing brain - Medical News Today
... . For full functionality, it is necessary to enable JavaScript. Here are instructions how to enable JavaScript in your web browser. MNT - Hourly Medical News Since 2003. Sign in. News by email. Signing up is FREE, FAST and SIMPLE. Begin by entering your email address below. Join tens of thousands of doctors, health professionals and patients who receive our newsletters. Tailored for the health areas that matter to you. Daily or weekly emails with only the content you want. Sign me up. We value your privacy. Learn more about our commitment to protecting your privacy. A - B. Sign up for our newsletter Prefer your news delivered by email. Abortion. Acid Reflux / GERD. Addiction. ADHD / ADD. Aid / Disasters. Alcohol / Illegal Drugs. Allergy. Alternative Medicine Inflammatory Bowel Disease. Irritable-Bowel Syndrome. IT / Internet / E-mail Litigation. Liver Disease / Hepatitis. Lung Cancer. Lupus. Lymphology / Lymphedema. Lymphoma / Leukemia. M - O. Sign up for our newsletter Prefer your news delivered by emai...
http://medicalnewstoday.com/releases/281179.php
*  Exit Survey
Apply the concepts of health promotion, risk reduction, and disease prevention. A Apply the concepts of health promotion, risk reduction, and disease prevention. A Apply the concepts of health promotion, risk reduction, and disease prevention. A Apply the concepts of health promotion, risk reduction, and disease prevention. A Apply the concepts of health promotion, risk reduction, and disease prevention. A Apply the concepts of health promotion, risk reduction, and disease prevention. A Apply the concepts of health promotion, risk reduction, and disease prevention. B Effectively provide nursing care to patients in all stages of health and wellness. B Effectively provide nursing care to patients in all stages of health and wellness. B Effectively provide nursing care to patients in all stages of health and wellness. B Effectively provide nursing care to patients in all stages of health and wellness. E Apply concepts of human diversity and global health care in nursing practice. E Apply concepts of human divers...
https://surveymonkey.com/r/?sm=xQkE+lZNTQMoMM165yakCg==
*  Conservation and the Genetics of Populations 2nd Edition | 9780470671450 | eCampus.com
Conservation and the Genetics of Populations 2nd Edition. Waits, Estimation of effective population size in Yellowstone grizzly bears, 134 8 Natural selection, 136 8.1 Fitness, 138 8.2 Single locus with two alleles, 138 8.3 Multiple alleles, 144 8.4 Frequency-dependent selection, 147 8.5 Natural selection in small populations, 149 8.6 Natural selection and conservation, 151 Guest Box 8: Paul A. Tucker, Genetic population structure and conservation of fisher in western North America, 185 10 Multiple loci, 187 10.1 Gametic disequilibrium, 188 10.2 Small population size, 192 10.3 Natural selection, 192 10.4 Population subdivision, 196 10.5 Hybridization, 196 10.6 Estimation of gametic disequilibrium, 199 10.7 Multiple loci and conservation, 200 Guest Box 10: Robin S. Waples, Estimation of effective population size using gametic disequilibrium, 203 11 Quantitative genetics, 205 11.1 Heritability, 206 11.2 Selection on quantitative traits, 212 11.3 Finding genes underlying quantitative traits, 217 11.4 Loss of qua...
http://ecampus.com/conservation-genetics-populations-2nd/bk/9780470671450
*  Contrasting patterns of transposable-element insertion polymorphism and nucleotide diversity in auto
BioMedSearch Home Advanced Search Tools Search Tutorial Login | Create Free Account Document Detail Contrasting patterns of transposable-element insertion polymorphism and nucleotide diversity in autotetraploid and allotetraploid Arabidopsis species. MedLine Citation: PMID: 18493073 Owner: NLM Status: MEDLINE Abstract/OtherAbstract: It has been hypothesized that polyploidy permits the proliferation of transposable elements, due to both the masking of deleterious recessive mutations and the breakdown of host silencing mechanisms. We investigated the patterns of insertion polymorphism of an Ac-like transposable element and nucleotide diversity at 18 gene fragments in the allotetraploid Arabidopsis suecica and the autotetraploid A. arenosa. All identified insertions were fixed in A. suecica, and many were clearly inherited from the parental species A. thaliana or A. arenosa. These results are inconsistent with a rapid increase in transposition associated with hybrid breakdown but support the evidence from nucleo...
http://biomedsearch.com/nih/Contrasting-patterns-transposable-element-insertion/18493073.html
*  Deciphering molecular circuits from genetic variation underlying transcriptional responsiveness to s
... timuli. 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 Deciphering molecular circuits from genetic variation underlying transcriptional responsiveness to stimuli. Recent Broad Publications Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Read More / View Supplemental Materials Ferritinophagy via NCOA4 is required for erythropoiesis and is regulated by iron dependent HERC2-mediated proteolysis. Read More / View Supplemental Materials Orthogonal g...
http://broadinstitute.org/publications/broad4694
*  Survival Is Associated With Genetic Variation in Inflammator... : Annals of Surgery
... 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. Annals of Surgery Wolters Kluwer Health Logo. Survival Is Associated With Genetic Variation in Inflammator... A A You could be reading the full-text of this article now if you... If you have access to this article through your institution, you can view this article in. Annals of Surgery: June 2013 - Volume 257 - Issue 6 - p 1096–1102 doi: 10.1097/SLA.0b013e318275b7e5 Original Articles. Survival Is Associated With Genetic Variation in Inflammatory Pathway Genes Among Patients With Resected and Unresected Pancreatic Cancer Reid-Lombardo, Kaye M. Export. Source Survival Is Associated With Genetic Variation in Inflammatory Pathway Genes Among Patients With Resected and Unresected Pancreatic Cancer Annals of Surgery. Email to a Colleague. Login Login with your LWW Journals username and password...
http://journals.lww.com/annalsofsurgery/Abstract/2013/06000/Survival_Is_Associated_With_Genetic_Variation_in.17.aspx
*  .. Tag: children .. Maternal Connections .. SNPwatch: Genetic Variations May Impact Risk of Hearin
Tag: children. May 7, 2014. Maternal Connections 7 comments Published by 23andMe under 23andMe Research. It’s no surprise that we inherit almost all of our traits from our parents, but 23andMe researchers found that more of those traits come from our mothers than our fathers. So as we near Mother’s Day we thought we’d highlight some of these findings and give you a few more reasons to thank your mom. It ... Read more. Tags: children, dimples, Family Inheritance, fathers, inherited traits, maternal line, mother's day, parents, photic sneeze, research, traits. November 10, 2009. SNPwatch: Genetic Variations May Impact Risk of Hearing Loss in Children Receiving Common Chemotherapy Drug 0 comments Published by ErinC under SNPWatch. Cisplatin, a cancer chemotherapy drug first approved by the FDA in 1978, revolutionized the treatment of many types of cancer. Despite its effectiveness, in many cases doctors are forced to reduce the drug's dose, or abandon it altogether, due to serious side effects on patients...
http://blog.23andme.com/tag/children/
*  Genetic distance
... is a measure of the genetic divergence between species or between populations within a species populations with many similar alleles have small genetic distances this indicates that they are closely related and have a recent common ancestor genetic distance is useful for reconstructing the history of populations for example evidence from genetic distance suggests that african and eurasian people diverged about years ago genetic distance is also used for understanding the origin of biodiversity for example the genetic distances between different breeds of domesticated animals are often investigated in order to determine which breeds should be protected to maintain genetic diversity ruane j a critical review of the value of genetic distance studies in conservation of animal genetic resources journal of animal breeding and genetics chicago biological foundation measures of genetic distance reynolds weir and cockerham s genetic distance in this measure was published by john reynolds b s weir and c clark cock...
https://en.wikipedia.org/wiki/Genetic_distance
*  LabName:Alcazar - OpenWetWare
... LabName:Alcazar From OpenWetWare Difference between revisions Jump to: navigation, search Revision as of 18:09, 21 December 2013 view source Ruben Alcazar Talk. Revision as of 18:16, 21 December 2013 view source Ruben Alcazar Talk. font face= calibri style= color:#000000 font size= 6. font face= calibri style= color:#000000 font size= 6. br. br. - 'Plant-Environment Interactions' br br. + 'Plant-Environment Interactions' br. + font face= calibri style= color:#C0C0C0 font size= 4. + br. font face= calibri style= color:#000000 font size= 4. font face= calibri style= color:#000000 font size= 4. br. br. 'Advance in Knowledge. 'Advance in Knowledge. - We're interested in genetics of natural variation, population genetics and molecular biology. We're currently studying immune receptor gene variation and its involvement in the evolvement of incompatibilities between wild populations, from a molecular and evolutionary perspective. + We're interested in genetics of natural variation, population genetics and molec...
http://openwetware.org/index.php?title=LabName:Alcazar&diff=762495&oldid=762494
*  Researchers link 11 genetic variations to type 2 diabetes
... April 1, 2008 Researchers link 11 genetic variations to type 2 diabetes April 1, 2008 Mathematicians at Michigan Technological University have developed powerful new tools for winnowing out the genes behind some of humanity’s most intractable diseases. With another, they have isolated 11 variations within genes—called single nucleotide polymorphisms, SNPs or “snips”—associated with type 2 diabetes. “With chronic, complex diseases like Parkinson’s, diabetes and ALS, multiple genes are involved,” said Qiuying Sha, an assistant professor of mathematical sciences. With complex inherited conditions, including type 2 diabetes, single genes may precipitate the disease on their own, while other genes cause disease when they act together. To test their model on real data, Sha’s team analyzed genes from over 1,000 people in the United Kingdom, half with type 2 diabetes and half without. But getting the genetic data to work on is not. Sep 19, 2015. Sep 16, 2015. Sep 15, 2015. Sep 05, 2015. Sep 03, 2015. More from M...
http://phys.org/news/2008-04-link-genetic-variations-diabetes.html
*  additive genetic variance definition
... genes proteins definitions models developmental models general concepts contribute corrections links protocols home a b c d e f g h i j k l m n o p q r s t u v w x y z additive genetic variance definition search for glossary word glossary def textbooks protocols images tools forum pubmed links press releases biology glossary search by everythingbio com genetic variance associated with the average effects of substituting one allele for another a b c d e f g h i j k l m n o p q r s t u v w x y z genes proteins definitions models developmental models general concepts contribute corrections links protocols home website created and maintained by mark lefers and the holmgren lab last updated july...
http://groups.molbiosci.northwestern.edu/holmgren/Glossary/Definitions/Def-A/additive_genetic_variance.html
*  .. Category: Health and Traits .. It’s Not Genes or Environment, It’s Genes AND Environm
It’s Not Genes or Environment, It’s Genes AND Environment 0 comments Published by ErinC under Health and Traits. Tags: disease risk, environment, risk assessment. SNPwatch: Researchers Find First SNPs Linked To Common Type of Leukemia 1 comment Published by ErinC under Health and Traits, SNPWatch. SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide ... SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide ... SNPwatch: Too Short, Too Fast – A Genetic Variation Associated with Telomere Length 2 comments Published by...
http://blog.23andme.com/category/health-traits/page/18/
*  www.genomebiology.com - Table 1
www genomebiology com table table genetic diversity in continental groups and populations nind s sp θ π π h π hap het tajima s d p continent india africa europe east asia population brahmin gih irula mala madiga yadava lwk yri ceu tsi chb chd jpt nind number of individuals s number of segregating sites sp number of private segregating sites θ estimated theta n e u from s π nucleotide diversity h observed heterozygosity hap het averaged haplotype diversity over ten kb windows tajima s d tajima s d p p value for tajima s d test confidence intervals of θ and π are shown in parentheses xing et al genome biology r doi gb r...
http://genomebiology.com/2010/11/11/R113/table/T1
*  The Firing Line Forums - View Single Post - Arisaka 99
the firing line forums view single post arisaka thread arisaka view single post february am tikirocker senior member join date may location nsw australia posts might as well bung mine up series type kokura australian battle capture bring back mum is intact has bipod aa sights cleaning rod and dust cover bolt is a mismatch but that s normal for a battle capture bring back since bolts went in one pile and rifles in another bore is excellent and bayonet is a rare variant type kokura i ve keept mine in the exact condition she was found in ww time capsule tiki the lee enfield forums http www surplusrifleforum com viewforum php f surplus rifle forums http www surplusrifleforum com index php last edited by tikirocker february at am tikirocker view public profile find more posts by tikirocker page generated in seconds with queries...
http://thefiringline.com/forums/showpost.php?p=5406975&postcount=5
*  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
*  cincinnati childrens hospital medical center cytogenetics laboratory microarray snp omni current methodology for tests processed on october or later methodology the microarray analysis was performed using the infinium assay with the illumina hd h
http://cincinnatichildrens.org/WorkArea/DownloadAsset.aspx?id=104670

Genetic variation: right|thumbWGAViewer: 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.Gene polymorphismPanmixia: Panmixia (or panmixis) means random mating.King C and Stanfield W.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.Disequilibrium (medicine): Disequilibrium}}Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Branching 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.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 asDNA 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).Health geography: Health geography is the application of geographical information, perspectives, and methods to the study of health, disease, and health care.Microsatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.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.Coles PhillipsMolecular 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.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.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.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.Chromosome regionsHaplogroup L0 (mtDNA)Thermal cyclerAntigenic shiftSilent 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.Inbreeding depression: Inbreeding depression is the reduced biological fitness in a given population as a result of inbreeding, or breeding of related individuals. Population biological fitness refers to its ability to survive and reproduce itself.Microevolution: Microevolution is the change in allele frequencies that occur over time within a population.Microevolution: What is microevolution?Phylogeography: Phylogeography is the study of the historical processes that may be responsible for the contemporary geographic distributions of individuals. This is accomplished by considering the geographic distribution of individuals in light of the patterns associated with a gene genealogy.Evolution in Variable EnvironmentPlant breedingQRISK: 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.Ontario Genomics Institute: The Ontario Genomics Institute (OGI) is a not-for-profit organization that manages cutting-edge genomics research projects and platforms.The Ontario Genomics Institute OGI also helps scientists find paths to the marketplace for their discoveries and the products to which they lead, and it works through diverse outreach and educational activities to raise awareness and facilitate informed public dialogue about genomics and its social impacts.RAPD: RAPD (pronounced "rapid") stands for 'Random Amplified Polymorphic DNA'. It is a type of PCR reaction, but the segments of DNA that are amplified are random.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).Matrix population models: Population models are used in population ecology to model the dynamics of wildlife or human populations. Matrix population models are a specific type of population model that uses matrix algebra.Uniparental inheritance: Uniparental inheritance is a non-mendelian form of inheritance that consists of the transmission of genotypes from one parental type to all progeny. That is, all the genes in offspring will originate from only the mother or only the father.Amplified fragment length polymorphismThreshold host density: Threshold host density (NT), in the context of wildlife disease ecology, refers to the concentration of a population of a particular organism as it relates to disease. Specifically, the threshold host density (NT) of a species refers to the minimum concentration of individuals necessary to sustain a given disease within a population.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.RV coefficient: In statistics, the RV coefficientEcosystemHybrid inviability: Hybrid inviability is a post-zygotic barrier, which reduces a hybrid's capacity to mature into a healthy, fit adult.Hybrid inviability.Reproductive toxicity: Reproductive toxicity is a hazard associated with some chemical substances, that they will interfere in some way with normal reproduction; such substances are called reprotoxic. It includes adverse effects on sexual function and fertility in adult males and females, as well as developmental toxicity in the offspring.Four Seasons Baltimore and Residences: Four Seasons Hotel Baltimore is currently a 22 story highrise hotel complex building which opened on November 14, 2011. The building's construction began back in 2007 and went through several changes.Indy (gene): Indy, short for I'm not dead yet, is a gene of the model organism, the fruit fly Drosophila melanogaster. Mutant versions of this gene have doubled the average life span of fruit flies in at least one set of experiments, but this result has been subject to controversy.Recombination (cosmology): In cosmology, recombination refers to the epoch at which charged electrons and protons first became bound to form electrically neutral hydrogen atoms.Note that the term recombination is a misnomer, considering that it represents the first time that electrically neutral hydrogen formed.GA²LENMaladaptation: A maladaptation () is a trait that is (or has become) more harmful than helpful, in contrast with an adaptation, which is more helpful than harmful. All organisms, from bacteria to humans, display maladaptive and adaptive traits.List of sequenced eukaryotic genomesGeneralizability theory: Generalizability theory, or G Theory, is a statistical framework for conceptualizing, investigating, and designing reliable observations. It is used to determine the reliability (i.Extracellular: In cell biology, molecular biology and related fields, the word extracellular (or sometimes extracellular space) means "outside the cell". This space is usually taken to be outside the plasma membranes, and occupied by fluid.Hyperparameter: In Bayesian statistics, a hyperparameter is a parameter of a prior distribution; the term is used to distinguish them from parameters of the model for the underlying system under analysis.Clonal Selection Algorithm: In artificial immune systems, Clonal selection algorithms are a class of algorithms inspired by the clonal selection theory of acquired immunity that explains how B and T lymphocytes improve their response to antigens over time called affinity maturation. These algorithms focus on the Darwinian attributes of the theory where selection is inspired by the affinity of antigen-antibody interactions, reproduction is inspired by cell division, and variation is inspired by somatic hypermutation.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.Peat swamp forest: Peat swamp forests are tropical moist forests where waterlogged soil prevents dead leaves and wood from fully decomposing. Over time, this creates a thick layer of acidic peat.Genetic structure: Genetic structure refers to any pattern in the genetic makeup of individuals within a population.CS-BLASTTemporal analysis of products: Temporal Analysis of Products (TAP), (TAP-2), (TAP-3) is an experimental technique for studyingDNA 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.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.Biological ornament: A biological ornament is a secondary sexual characteristic of an animal that appears to serve a decorative function rather than an ostensible, utilitarian function. Ornaments are used in displays to attract mates in a process known as sexual selection.

(1/30484) 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)

(2/30484) The Lewontin and Krakauer test on quantitative characters.

It is shown that LEWONTIN and KRAKAUER's test could also be applied to quantitative characters that do not show important dominance and epistatic genetic variances. The design of experiments for this purpose and the error of the estimation of F are discussed.  (+info)

(3/30484) Expression of the naturally occurring truncated trkB neurotrophin receptor induces outgrowth of filopodia and processes in neuroblastoma cells.

We have investigated the effects of the truncated trkB receptor isoform T1 (trkB.T1) by transient transfection into mouse N2a neuroblastoma cells. We observed that expression of trkB.T1 leads to a striking change in cell morphology characterized by outgrowth of filopodia and processes. A similar morphological response was also observed in SH-SY5Y human neuroblastoma cells and NIH3T3 fibroblasts transfected with trkB.T1. N2a cells lack endogenous expression of trkB isoforms, but express barely detectable amounts of its ligands, brain-derived neurotrophic factor (BDNF) and neurotrophin-4 (NT-4). The morphological change was ligand-independent, since addition of exogenous BDNF or NT-4 or blockade of endogenous trkB ligands did not influence this response. Filopodia and process outgrowth was significantly suppressed when full-length trkB.TK+ was cotransfected together with trkB.T1 and this inhibitory effect was blocked by tyrosine kinase inhibitor K252a. Transfection of trkB.T1 deletion mutants showed that the morphological response is dependent on the extracellular, but not the intracellular domain of the receptor. Our results suggest a novel ligand-independent role for truncated trkB in the regulation of cellular morphology.  (+info)

(4/30484) Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.

The aetiology of sporadic medullary thyroid carcinoma is unknown. About 50% harbour a somatic mutation at codon 918 of RET (M918T). To investigate whether other RET sequence variants may be associated with or predispose to the development of sporadic medullary thyroid carcinoma, we analysed genomic DNA from the germline and corresponding tumour from 50 patients to identify RET sequence variants. In one patient, tumour DNA showed a novel somatic 12 bp in-frame deletion in exon 15. More interestingly, we found that the rare polymorphism at codon 836 (c.2439C > T; S836S) occurred at a significantly higher frequency than that in control individuals without sporadic medullary thyroid carcinoma (Fisher's exact test, P = 0.03). Further, among the nine evaluable cases with germline c.2439C/T, eight also had the somatic M918T mutation in MTC DNA which was more frequent than in patients with the more common c.2439C/C (89% vs 40%, respectively; Fisher's exact test, P = 0.01). These findings suggest that the rare sequence variant at codon 836 may somehow play a role in the genesis of sporadic medullary thyroid carcinoma.  (+info)

(5/30484) The nuclear receptor superfamily has undergone extensive proliferation and diversification in nematodes.

The nuclear receptor (NR) superfamily is the most abundant class of transcriptional regulators encoded in the Caenorhabditis elegans genome, with >200 predicted genes revealed by the screens and analysis of genomic sequence reported here. This is the largest number of NR genes yet described from a single species, although our analysis of available genomic sequence from the related nematode Caenorhabditis briggsae indicates that it also has a large number. Existing data demonstrate expression for 25% of the C. elegans NR sequences. Sequence conservation and statistical arguments suggest that the majority represent functional genes. An analysis of these genes based on the DNA-binding domain motif revealed that several NR classes conserved in both vertebrates and insects are also represented among the nematode genes, consistent with the existence of ancient NR classes shared among most, and perhaps all, metazoans. Most of the nematode NR sequences, however, are distinct from those currently known in other phyla, and reveal a previously unobserved diversity within the NR superfamily. In C. elegans, extensive proliferation and diversification of NR sequences have occurred on chromosome V, accounting for > 50% of the predicted NR genes.  (+info)

(6/30484) Hemoglobin Providence. A human hemoglobin variant occurring in two forms in vivo.

Hemoglobin Providence Asn and Hemoglobin Providence Asp are two abnormal hemoglobins which apparently arise from a single genetic change that substitutes asparagine for lysine at position 82 (EF6) in the beta chain of human hemoglobin. The second form appears to be thr result of a partial in vivo deamidation of the asparagine situated at position beta 82. Cellulose acetate and citrate agar electrophoresis of hemolysates from patients with this abnormality shows three bands. Globin chain electrophoresis at acid and alkaline pH shows three beta chains. These three chains correspond to the normal beta A chain and two abnormal beta chains. Sequence analysis indicates that the two abnormal chains differ from beta A at only position beta 82. In the two abnormal chains, the residue which is normally lysine is substituted either by asparagine or by aspartic acid. These substitutions are notable because beta 82 lysine is one of the residues involved in 2,3-diphosphoglycerate binding. Additionally, beta 82 lysine is typically invariant in hemoglobin beta chain sequences. Sequence data on the two forms of Hemoglobin Providence are given in this paper. The functional properties of these two forms are described in the next paper.  (+info)

(7/30484) Isolation and characterization of two mouse L cell lines resistant to the toxic lectin ricin.

Two variant mouse L cell lines (termed CL 3 and CL 6) have been selected for resistant to ricin, a galactose-binding lectin with potent cytotoxic activity. The resistant lines exhibit a 50 to 70% decrease in ricin binding and a 300- to 500-fold increase in resistance to the toxic effects of ricin. Crude membrane preparations of CL 3 cells have increased sialic acid content (200% of control), while the galactose, mannose, and hexosamine content is within normal limits. Both the glycoproteins and glycolipids of CL 3 cells have increased sialic acid, with the GM3:lactosylceramide ratios for parent L and CL 3 cells being 0.29 and 1.5, respectively. In contrast, the membranes of CL 6 cells have a decrease in sialic acid, galactose, and hexosamine content with mannose being normal. Both cell lines have specific alterations in glycosyltransferase activities which can account for the observed membrane sugar changes. CL 3 cells have increased CMP-sialic acid:glycoprotein sialyltransferase and GM3 synthetase activities, while CL 6 cells have decrease UDP-GlcNAc:glycoproteinN-acetylglucosaminyltransferase and DPU-galactose:glycoprotein galactosyltransferase activities. The increased sialic acid content of CL 3 cells serves to mask ricin binding sites, since neuraminidase treatment of this cell line restores ricin binding to essentially normal levels. However, the fact that neuraminidase-treated CL 3 cells are still 45-fold resistant to ricin indicates that either a special class of productive ricin binding sites is not being exposed or that the cell line has a second mechanism for ricin resistance.  (+info)

(8/30484) Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

The activity of the aromatase enzyme, which converts androgens into oestrogens and has a major role in regulating oestrogen levels in the breast, is thought to be a contributing factor in the development of breast cancer. We undertook this study to assess the role of constitutional genetic variation in the human aromatase gene (Cyp19) in the development of this disease. Our genotyping of 348 cases with breast cancer and 145 controls (all Caucasian women) for a published tetranucleotide repeat polymorphism at intron 4 of the Cyp19 gene revealed the presence of six common and two rare alleles. Contingency table analysis revealed a significant difference in allelic distribution between cases and controls (chi2 5df = 13.52, P = 0.019). The allele measuring 171 bp was over-represented in cases; of 14 individuals homozygous for this allele, 13 were cases. These individuals had a higher incidence of cancer in family members and an earlier age at diagnosis than other cases. In sequencing Cyp19's coding exons and regulatory regions, we discovered a perfect association between a silent polymorphism (G-->A at Val80) and the high-risk genotype. Our conclusion is that constitutional genetic variation at the Cyp19 locus is associated with the risk of developing breast cancer, with the 171-bp allele serving as the high-risk allele.  (+info)


What is the possibility that humans will become immune or resistant to malaria?


Could resistance to malaria evolve in humans? (e.g., generation time, population 
size, genetic variation, etc.) I'm wondering for help with my project.
Any help would be great :)
----------

Well we already have developed an partial immunity. If a human is heterozygous for the trait that causes sickle cell anemia, they are extremely resistant to malaria. What happens is their blood cells are shaped normally, but when they are attacked by malaria, they become sickle and die, taking the malaria with them, meaning it cannot spread to other red blood cells.


How many segments are there in an orange?


Is the number constant or are there genetic variations?
----------

Looks like 9-14, I'm sure these is a genetic basis.


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.
----------

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!
----------

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?
----------

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?
----------

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.
----------

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.
----------

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.