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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Genetic Variation: Genotypic differences observed among individuals in a population.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Homozygote: An individual in which both alleles at a given locus are identical.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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.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).Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.HLA-DRB1 Chains: A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.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.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.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.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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.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.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.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.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.HLA-DQ Antigens: A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.HLA-DR Antigens: A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.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.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.HLA-B Antigens: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Apolipoprotein E4: A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.Suppression, Genetic: Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.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).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.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.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Heterozygote Detection: Identification of genetic carriers for a given trait.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.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)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.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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.HLA-DQ alpha-Chains: Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.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.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Genes, Plant: The functional hereditary units of PLANTS.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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.HLA Antigens: Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.Apolipoproteins E: A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.Genes, Fungal: The functional hereditary units of FUNGI.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.China: A country spanning from central Asia to the Pacific Ocean.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.HLA-A Antigens: Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Dinucleotide Repeats: The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.HLA-C Antigens: Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma).Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.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.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.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.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.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.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Zea mays: A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Fungal Proteins: Proteins found in any species of fungus.Genes, MHC Class II: Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and in the I region in mice.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.Genes, Suppressor: Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.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.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.

*  FlyMine: Allele Mdh1[Delta10.5] D. melanogaster
Allele : Mdh1[Delta10.5] D. melanogaster. DB identifier FBal0248487. Organism Drosophila ......
http://flymine.org/query/portal.do?externalids=FBal0248487
*  FlyMine: Allele jub[HMS00714] D. melanogaster
Allele : jub[HMS00714] D. melanogaster. DB identifier FBal0257397. Organism Drosophila melanogaster ......
http://flymine.org/query/portal.do?externalids=FBal0257397
*  FlyMine: Allele ct[L25] D. melanogaster
Allele : ct[L25] D. melanogaster. DB identifier FBal0002010. Organism Drosophila melanogaster. ......
http://flymine.org/query/portal.do?externalids=FBal0002010
*  FlyMine: Allele srp[57] D. melanogaster
Allele : srp[57] D. melanogaster. DB identifier FBal0093777. Organism Drosophila melanogaster. ......
http://flymine.org/query/portal.do?externalids=FBal0093777
*  FlyMine: Allele scb[f06320] D. melanogaster
Allele : scb[f06320] D. melanogaster. DB identifier FBal0178098. Organism Drosophila melanogaster. ......
http://flymine.org/query/portal.do?externalids=FBal0178098
*  Dienekes' Anthropology Blog: 9-repeat allele at D9S1120 and a single founding...
Recently, the observation of a high-frequency private allele, the 9-repeat allele at microsatellite ... "Perhaps this allele occurred at a decent frequency due to genetic drift in an early group of ... Haplotypic Background of a Private Allele at High Frequency in the Americas. Kari B. Schroeder et ... This allele is found in more than 30% of the descendants of this ancient Beringian race in which ......
http://dienekes.blogspot.com/2009/04/9-repeat-allele-at-d9s1120-and-single.html
*  The HLA-C*04:01/KIR2DS4 gene combination and human leukocyte antigen alleles...
The HLA-C*04:01/KIR2DS4 gene combination and human leukocyte antigen alleles with high population ... HLA and KIR-typed and analysed for potential differences in single-allele frequencies and allele ... HLA class I alleles associated with a lack of viral control had a significantly higher population ... frequency than relatively protective alleles (P = 0.0093), in line with a rare allele advantage. ......
http://upcommons.upc.edu/handle/2117/81169
*  Allele Specific Quantification - EpigenDx
EpigenDx offers Pyrosequencing services for obtaining highly accurate allele-specific measurements ... EpigenDx Allele Quantification Applications. Application: Allele-Specific Expression Analysis. ... Allele quantification. Pyrosequencing quantitative genotyping and allele quantification analysis. ... Allele Specific Quantification. Scientific Overview. Compared to other genotyping methods and ......
http://epigendx.com/d/service/pyrosequencing/allele-specific-quantification/
*  Curly Ripe Meat: Lactase... fickle bastard allele
Lactase... fickle bastard allele Dear Mrs. Intarweb-Science;. Prior to the domestication of cattle ... This is apparently what happens after nursing, if you don't have the magic "lactase allele" of the ... Oh; wait... or you could have this new lactase allele that the Tanzanians & Kenyans have recently ... If a bunch of different alleles can cause lactose tolerance to remain active, why do they think ......
http://curlyripemeat.blogspot.com/2008/08/lactase-fickle-bastard-allele.html
*  JE SUIS ALLE LE CHERCHER EN SUISSE | Born Bad Records
JE SUIS ALLE LE CHERCHER EN SUISSE from FOREVER LE BON COIN by FOREVER PAVOT ......
http://shop.bornbadrecords.net/track/je-suis-alle-le-chercher-en-suisse
*  myo51 (SPBC2D10.14c) | www.pombase.org
Term ID Term Name Evidence With/From Reference Count GO:0003779 actin binding IEA UniProtKB-KW:KW-0009 GO REF:0000037 38. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0002060 viable vegetative cell population 3815. Extensions Evidence Genotype Condition Reference Allele Expression affecting fus1 Microscopy myo51. Extensions Evidence Genotype Condition Reference Allele Expression affecting rng8 Microscopy myo51. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000003 Microscopy myo51. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000003 Microscopy myo51. Extensions Evidence Genotype Condition Reference Allele Expression affecting rng8 Microscopy myo51. Extensions Evidence Genotype Condition Reference Allele Expression affecting myo52 Microscopy myo51. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000001 Microscopy myo51. Term ID Term Name Evidence G...
http://pombase.org/spombe/result/SPBC2D10.14c
*  uge1 (SPBC365.14c) | www.pombase.org
Null PECO:0000015 PMID:23950735. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000003 Cell growth assay uge1. Null PECO:0000137, PECO:0000005 PMID:19264558. Cell growth assay uge1. Null PECO:0000137 PMID:25483073. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000003 Cell growth assay uge1. Null PECO:0000137, PECO:0000005 PMID:19264558. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000003 Cell growth assay uge1. Null PECO:0000137, PECO:0000005 PMID:22252817. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000002 Cell growth assay uge1. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000001 Cell growth assay uge1. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000003 Cell growth assay uge1. Extensions Evidence Genotype Condition Reference Allele Expression ...
http://pombase.org/spombe/result/SPBC365.14c
*  Infinite alleles model
... The 'infinite alleles model' is a mathematical model for calculating genetic mutation s. Crow 1964 introduced the 'infinite alleles model', an attempt to determine for a finite diploid population what proportion of loci would be homozygous. This was, in part, motivated by assertions by other geneticists that more than 50 percent of ' Drosophila ' loci were heterozygous, a claim they initially doubted. In order to answer this question they assumed first, that there were a large enough number of alleles so that any mutation would lead to a different allele that is the probability of back mutation to the original allele would be low enough to be negligible ; and second, that the mutations would result in a number of different outcomes from neutral to deleterious. If the effective population is large, then a large number of alleles can be maintained. However, this result only holds for the 'neutral' case, and is not necessarily true for the case when some alleles are subject to selection, i.e. In the case of...
https://en.wikipedia.org/wiki/Infinite_alleles_model
*  fps1 (SPAC6F12.13c) | www.pombase.org
fps1 SPAC6F12.13c. Report an error. fps1. Ontology Graph Report an error. Term ID Term Name Evidence With/From Reference Count GO:0004161 dimethylallyltranstransferase activity ISO SGD:S000003703 PMID:17596513 1. Ontology Graph Report an error. Term ID Term Name Evidence With/From Reference Count GO:0006696 ergosterol biosynthetic process ISO SGD:S000003703 PMID:17596513 45. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0002061 inviable vegetative cell population 1443. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000001 Microscopy fps1. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0001042 inviable after spore germination, single or double cell division 105. Extensions Evidence Genotype Condition Reference Genes Allele Expression. Cell growth assay fps1 fps1+ Overexpression PECO:0000004 PMID:17596513. Cell growth assay fps1 fps1+ Overexpression PECO:0000005 PMID:17596513. Term ID Term Nam...
http://pombase.org/spombe/result/SPAC6F12.13c
*  nse1 (SPCC550.05) | www.pombase.org
Cell growth assay Y264A, L265A Not specified PECO:0000005 PMID:21364888. Cell growth assay Y264A, L265A Not specified PECO:0000004 PMID:21364888. Cell growth assay nse1-1 Not specified PECO:0000126, PECO:0000102 PMID:25002536. Cell growth assay nse1-1 Not specified PECO:0000126, PECO:0000102 PMID:25002536. Cell growth assay nse1-1 Not specified PECO:0000126, PECO:0000102 PMID:25002536. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0000082 decreased cell population growth at high temperature 142. Cell growth assay Y264A, L265A Not specified PECO:0000005 PMID:21364888. Cell growth assay Y264A, L265A Not specified PECO:0000004 PMID:21364888. Cell growth assay nse1-1 Not specified PECO:0000126, PECO:0000102 PMID:25002536. Cell growth assay nse1-1 Not specified PECO:0000126, PECO:0000102 PMID:25002536. Cell growth assay nse1-1 Not specified PECO:0000126, PECO:0000102 PMID:25002536. Extensions Evidence Genotype Condition Reference Allele Expression affecting nse4 and nse1 Wes...
http://pombase.org/spombe/result/SPCC550.05
*  ctr6 (SPBC23G7.16) | www.pombase.org
ctr6 SPBC23G7.16. Report an error. Ontology Graph Report an error. Ontology Graph Report an error. Ontology Graph Report an error. Ontology Graph Report an error. Extensions Evidence Genotype Condition Reference Allele Expression. Cell growth assay ctr6+ Overexpression PECO:0000249 PMID:12244050. Extensions Evidence Genotype Condition Reference Allele Expression. Cell growth assay ctr6+ Overexpression PECO:0000250 PMID:12244050. viable vegetative cell population ctr6. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0000103 sensitive to copper 10. Extensions Evidence Genotype Condition Reference Allele Expression affecting ctr4 Transcript expression level evidence ctr6+ Overexpression. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000001 Microscopy ctr6. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0003284 decreased copper import 3. FYPO:0003280 decreased RNA level during cellular response t...
http://pombase.org/spombe/result/SPBC23G7.16
*  SPCC613.03 | www.pombase.org
Report an error. Extensions Evidence Genotype Condition Reference Allele Expression. Cell growth assay SPCC613.03. Null PECO:0000005, PECO:0000137 PMID:23173672. Extensions Evidence Genotype Condition Reference Allele Expression. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000002 Cell growth assay SPCC613.03. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0000088 sensitive to hydroxyurea 538. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000001 Microscopy SPCC613.03. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0002177 viable vegetative cell with normal cell morphology 3095. GO:0000080 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:0000084 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:0000085 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107...
http://pombase.org/spombe/result/SPCC613.03
*  ImmPort: Immunology Database and Analysis Portal - MHC Allele Search
Reference Data / MHC Allele Search. The HLA alleles and the allele alignments data are obtained from IMGT/HLA database IMGT/HLA release version 3.10.0, October, 2012. Please refer the following publications for information regarding the IMGT/HLA database and the hla.allele.org database :. Locus * HLA-A HLA-B HLA-C HLA-DMA HLA-DMB HLA-DOA HLA-DOB HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLA-DRB2 HLA-DRB3 HLA-DRB4 HLA-DRB5 HLA-DRB6 HLA-DRB7 HLA-DRB8 HLA-DRB9 HLA-E HLA-F HLA-G HLA-H HLA-J HLA-K HLA-L HLA-P HLA-V MICA MICB TAP1 TAP2. All Alleles All Alleles with G-CODE Group Code All Alleles with P-CODE Group Code All CWD Alleles. Allele Name IMGT Accession# G-CODE Group Code P-CODE Group Code Protein Sequence Transcript Sequence. All Types Structural Functional Sequence Alteration Structural - Complete protein Structural - Domain Structural - Secondary structure motif Structural - Cleaved peptide region Sequence Alteration - Single amino acid variation Sequence Alteration - Insertions and Deletions S...
https://immport.niaid.nih.gov/immportWeb/queryref/allele/displayQuery.do
*  JCSM - Comparison of BMI, AHI, and Apolipoprotein E ε4 (APOE-ε4) Alleles among Sleep Apnea Pati
JCSM - Comparison of BMI, AHI, and Apolipoprotein E ε4 APOE-ε4 Alleles among Sleep Apnea Patients with Different Skeletal Classifications. 1, 2 Comparison of BMI, AHI, and Apolipoprotein E ε4 APOE-ε4 Alleles among Sleep Apnea Patients with Different Skeletal Classifications .397-402 Jason J. There was no association of the APOE - 4 allele with facial profile among these OSA patients. Comparison of BMI, AHI, and apolipoprotein E 4 APOE- 4 alleles among sleep apnea patients with different skeletal classifications. 12, 13 Thus one aim of this case-control study was to investigate whether genetic variations of the APOE gene, especially the presence of the APOE - 4 allele, are associated with OSA in Class II patients compared to non-Class II i.e., Class I or Class III OSA patients. Overall, the skeletal Class II OSA patients had a lower BMI than Class I and Class III patients, although on average they were still overweight Table 2. There was no statistical difference p = 0.7 in the number of individuals with no AP...
http://aasmnet.org/jcsm/ViewAbstract.aspx?pid=29432
*  rps402 (SPBC21B10.10) | www.pombase.org
rps402 SPBC21B10.10. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000003 Cell growth assay rps402. Null PECO:0000137, PECO:0000005 PMID:19264558. Extensions Evidence Genotype Condition Reference Allele Expression expressivity FYPO EXT:0000003 Cell growth assay rps402. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0001098 sensitive to 4-nitroquinoline N-oxide 159. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000001 Microscopy rps402. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0002177 viable vegetative cell with normal cell morphology 3095. GO:0000080 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:0000084 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:0000085 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:0000087 PECO:0000005, PECO:00...
http://pombase.org/spombe/result/SPBC21B10.10
*  Deletion and Insertion Allele - Molecular Biology
deletion and insertion allele molecular biology biojob bioblog pubalert biotool bioproduct bioforum protocol home forum index home forum index home live discussion top new forum archives molecular biology deletion and insertion allele what are they jan visit this topic in live forum printer friendly version came across these terms but cannot find what they mean please can anyone give me simple explanation nabi nabi on jan pm said came across these terms but cannot find what they mean please can anyone give me simple explanation i am unable to find the reply can anyone suggest me any site where i can make my self familiar with basic terminologies in molecular biology like deletion allele nabi well it means what it says some alleles of genes are dues to short dna sequence insertion and deletions into an exon google this paper for an example a bp insertion deletion polymorphism of uncoupling protein in relation to obesity in tongans perneseblue thank u pernesblue had come across other papers telling about deleti...
http://protocol-online.org/biology-forums-2/posts/5940.html
*  www.arthritis-research.com - Table
www arthritis research com table table association of mica polymorphism within the second and combined first and second french caucasian family cohort nd french family cohort st nd french family cohort a all individuals without controlling for ld with hla drb minor allele a a frequency in cases controls a minor allele transmitted untransmitted transmission rate tdt p value b subgroup without hla drb risk alleles minor allele transmitted untransmitted transmission rate tdt p value c all individuals controlling for ld with hla drb by conditional logistic regression or ci b p value lrt c p value a controls are non transmitted alleles b odds ratio of transmission of minor allele versus transmission of major allele as determined in logistic regression c likelihood ratio test evaluating model including hla drb alleles s and s p and mica versus s and s p only for the hla drb locus allele l was used as reference effects of s and s p alleles are presented in the online supplement additional data file ci confidence int...
http://arthritis-research.com/content/11/3/R60/table/T2
*  rps2302 (SPBP4H10.13) | www.pombase.org
rps2302 SPBP4H10.13. Gene Expression Taxonomic Conservation Orthologs Interactions:. Report an error. Ontology Graph Report an error. Ontology Graph Report an error. Ontology Graph Report an error. Term ID Term Name Evidence With/From Reference Count GO:0022627 cytosolic small ribosomal subunit ISO SGD:S000006336 GO REF:0000024 65. Ontology Graph Report an error. Null PECO:0000126, PECO:0000275, PECO:0000005 PMID:25452419. viable vegetative cell population rps2302. Null PECO:0000137, PECO:0000005 PMID:23697806. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0001234 slow vegetative cell population growth 329. Null PECO:0000126, PECO:0000275, PECO:0000005 PMID:25452419. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000001 Microscopy rps2302. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0002177 viable vegetative cell with normal cell morphology 3095. Protein Families and Domains Feature ID Da...
http://pombase.org/spombe/result/SPBP4H10.13
*  There’s more to breeding Red and Whites than we thought | Hoards Dairyman
There’s more to breeding Red and Whites than we thought. Hoards Dairyman. There’s more to breeding Red and Whites than we thought. Hoard s Dairyman: There’s more to breeding Red and Whites than we thought. In addition to the traditional red carrier gene, Black-Red, wild type and dominant red have all entered the equation. with the black allele being dominant over the recessive red allele. Since both the male and female carry two copies of the recessive allele for red coat color, the coat color of the offspring will be red and white. breed a Red and White male or female two copies of the recessive gene to a black and white Holstein that carries the allele for red coat color one copy. The Red and White would always pass along the recessive red allele to its offspring while there would be a 50-50 chance the black and white parent who is a red carrier would pass on the red allele. hence a 50 percent chance for a red offspring. breed two red-carrier black and white Holsteins to one another. That is when the “wild-...
http://hoards.com/blog_breeding-Red-and-Whites?mini=calendar/2014-06
*  Dominance (genetics)
If 'AA' and 'aa' individuals homozygotes show different forms of some trait phenotypes, and 'Aa' individuals heterozygotes show the same phenotype as 'AA' individuals, then allele 'A' is said to 'dominate' or 'be dominant to' or 'show dominance to' allele 'a', and 'a' is said to 'be recessive to' 'A'. Another example occurs at the locus for the Beta-globin component of hemoglobin, where the three molecular phenotypes of 'Hb A /Hb A ', 'Hb A /Hb S ', and 'Hb S /Hb S ' are all distinguishable by protein electrophoresis. In a 'bb' plant, the flowers will be white, irrespective of the genotype of the other locus as 'AA', 'Aa', or 'aa'. For example, if 'p' is the frequency of allele 'A', and 'q' is the frequency of allele 'a' then the terms 'p' 2, 2'pq', and 'q' 2 are the frequencies of the genotypes 'AA', 'Aa' and 'aa' respectively. Now, if 'A' is completely dominant to 'a' then the frequency of the carrier genotype 'Aa' cannot be directly observed since it has the same traits as the homozygous genotype 'AA', how...
https://en.wikipedia.org/wiki/Dominance_(genetics)
*  Histocompatibility
'Histocompatibility', or tissue compatibility, is the property of having the same, or mostly the same, allele s of a set of gene s called human leukocyte antigen s HLA. On a populational level there is a great number of different alleles at each HLA loci on Chromosome 6 at 6p21.3 in humans. However on an individual level a person can only inherit two alleles for each HLA gene locus due to the limits of sexually reproductive meiosis. This creates a situation where a person's spread of HLA alleles or tissue types may or may not match another's. Histocompatibility is thus a measure of how similarly two people's HLA alleles or tissue types matches up. The more closely two people's HLA alleles match up, the less one's donor tissue graft will be rejected by the recipient's immune system. The gene products of HLA code for major histocompatibility complex MHC molecules, found in all vertebrate s. These genes are expressed on the surface of most tissues as self- antigen s, to which the immune system raises antibodies ...
https://en.wikipedia.org/wiki/Histocompatibility
*  Transvection (genetics)
Transvection genetics. Transvection genetics. 'Transvection' is an epigenetic phenomenon that results from an interaction between an allele on one chromosome and the corresponding allele on the homologous chromosome. Transvection can lead to either gene activation or repression. It can also occur between nonallelic regions of the genome as well as regions of the genome that are not transcribed. The first observation of mitotic i.e. non- meiotic chromosome pairing was discovered via microscopy in 1908 by Nettie Stevens. Lewis at Caltech discovered transvection at the bithorax complex in Drosophila in the 1950s. 2 Since then, transvection has been observed at a number of additional loci in Drosophila, including white, decapentaplegic, eyes absent, vestigial, and yellow. As stated by Ed Lewis, "Operationally, transvection is occurring if the phenotype of a given genotype can be altered solely by disruption of somatic or meiotic pairing. Such disruption can generally be accomplished by introduction of a heteroz...
https://en.wikipedia.org/wiki/Transvection_(genetics)
*  NATSYNTHLETHALARA - Euresearch UNIL
... aller à la page d'accueil. aller à la page de contact. UNIL Accueil UNIL Actualit s UNIL Interne MyUNIL Les Facult s. Recherche européenne à l'UNIL. Recherche européenne à l'UNIL. Projets UNIL FP7. Projets UNIL FP7. Dissecting the molecular basis of deleterious genetic interactions involving naturally occurring alleles in Arabidopsis. Domaine: People IEF Acronyme: NATSYNTHLETHALARA Dur e: 01.05.2008 30.04.2010 Budget total: 178.731 EUR Budget UNIL: 178.731 EUR. Abstract Natural genetic variation within populations largely determines phenotypic variation and is increasingly recognized as a critical factor in such diverse contexts as crop productivity or human disease susceptibility. Whether a given allele confers a disease burden can depend on environmental factors, but also on the presence of particular alleles at other loci. Thus, natural allelic variants that by themselves are a priori not deleterious can have strong synthetic effects when combined. Despite their importance, the extent and nature of su...
http://unil.ch/euresearch/home/menuguid/projets-unil-fp7/people-marie-curie/natsynthlethalara.html
*  hem2 (SPAC1805.06c) | www.pombase.org
hem2 SPAC1805.06c. Report an error. Ontology Graph Report an error. Ontology Graph Report an error. Term ID Term Name Evidence With/From Reference Count GO:0006783 heme biosynthetic process ISO SGD:S000003008 GO REF:0000024 13. Ontology Graph Report an error. Extensions Evidence Genotype Condition Reference Allele Expression penetrance FYPO EXT:0000001 Microscopy hem2. Term ID Term Name Evidence Genotype Condition Reference Count Alleles Expression FYPO:0002177 viable vegetative cell with normal cell morphology 3095. Help Quantitative Gene Expression Protein Level Molecules/Cell average Extension Condition Scale Evidence Reference 53296 during. GO:0000080 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:0000084 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:0000085 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:0000087 PECO:0000005, PECO:0000126 single cell mass spectrometry evidence PMID:24763107. GO:...
http://pombase.org/spombe/result/SPAC1805.06c
*  Myc MGI Mouse Gene Detail - MGI:97250 - myelocytomatosis oncogene
... HCOP human homology predictions: MYC Protein SuperFamily myc protein Gene Tree Myc. Human Diseases more Diseases 4 with Myc mouse models; 1 with human MYC associations. Burkitt Lymphoma; BL OMIM: 113970 View 5 models Mouse Models Human Disease Modeled: Burkitt Lymphoma; BL Allelic Composition Genetic Background Reference Phenotypes Tg IGL-MYC 3Hm /0. Breast Cancer OMIM: 114480 View 7 models Mouse Models Human Disease Modeled: Breast Cancer Allelic Composition Genetic Background Reference Phenotypes Tg MMTV-Myc WT13Jrn /0. Bin1 tm1Gcp / Bin1 tm2Gcp Tg MMTV-Myc 141-3Led /0 Tg Wap-cre 11738Mam /0. Hepatocellular Carcinoma OMIM: 114550 View 10 models Mouse Models Human Disease Modeled: Hepatocellular Carcinoma Allelic Composition Genetic Background Reference Phenotypes Tg HBVX*,-Myc #Skp / Tg HBVX*,-Myc #Skp. Pancreatic Cancer OMIM: 260350 View 4 models Mouse Models Human Disease Modeled: Pancreatic Cancer Allelic Composition Genetic Background Reference Phenotypes Tg Ela1-Myc 158Bri /0. Phenotype Overview B...
http://informatics.jax.org/marker/MGI:97250
*  Diseases and sex: The cocktail maintaining immune gene variation
... Sticklebacks show the same polymorphism of immune genes as humans and thus make excellent research models. In a study of sticklebacks, researchers from the Max Planck Institute for Evolutionary Biology in Pl n, together with colleagues from the Helmholtz Center for Marine Research in Kiel, have now shown that reoccurring infectious diseases determine which individuals produce a particularly large number of offspring in a population, and which immune genes increase in frequency in the next host generation. With more than 1000 HLA immune gene versions called "alleles" present in the human population any two individuals are likely to differ and thus to be incompatible. This high variability in individuals' HLA alleles, called polymorphism, is exceptional. It has been suggested that MHC polymorphism is maintained in natural populations by diseases changing from one generation to the next and thus those individuals that happen to have the resistance MHC allele are healthy and thus have more offspring carrying...
http://phys.org/news/2012-01-diseases-sex-cocktail-immune-gene.html
*  www.malariajournal.com - Figure
... Resolution: standard / high Figure 3. TaqMan assays quantify alleles within DNA mixtures. Relative amounts of each allele within a mixture of known amounts of indicated DNA were determined to correspond to the quantity of input DNA in the mixture. The relative ratios of Dd2:HB3 shown as green dots in panel A; and ratios for Dd2:3D7 and VS/1:HB3 shown on the X-axis for panels B and C, respectively. The major red dots and minor allele blue dots calls for 32 pure parasite DNA samples which type with either one or the other allele are indicated in Panel A. Panels B and C show the CT threshold cycle for the relative ratios of the indicated DNA samples for the 06 000145472 and 13 000158614 assays respectively. The closed squares indicate amplification of the allele labeled with VIC ® dye and the open triangles indicate amplification of the allele labeled with FAM™. Daniels et al. Malaria Journal 2008 7 :223 doi:10.1186/1475-2875-7-223 Download authors' original image....
http://malariajournal.com/content/7/1/223/figure/F3
*  A1 allele
a allele a allele redirect list of a genes proteins or receptors...
https://en.wikipedia.org/wiki/A1_allele
*  Hepatitis C Genotypes - Concord Hospital - Concord, NH
... Skip to Content. 603 225-2711. I am looking for. About. Classes Events. News. Careers. Patient CONNECT. Menu. Main Navigation Find A Doctor. Care Treatment. Locations. Patients Visitors. Wellness. Healthcare Professionals. You are here: Home. Wellness. Health Library. Hepatitis C Genotypes. Jump to Section Links. Browse and register for related classes. Hepatitis C Genotypes Skip to the navigation Topic Overview Six major strains genotypes of the hepatitis C virus HCV cause infection. You may be infected with more than one genotype at a time. Genotype 1 is the most common strain in the United States. Genotypes 1, 2, and 3 are found worldwide. Genotype 4 is found throughout northern Africa. Genotype 5 commonly is found in South Africa. Genotype 6 is common in Asia. Genotype testing is done with a blood test. How genotype affects treatment Although genotype tests are not used to diagnose HCV infection, they may be done before treatment begins. Knowing the genotype may help a doctor choose the best treatmen...
http://concordhospital.org/wellness-resources/health-library/healthwise-document-viewer/?id=aa131179
*  Genotyping Strategy - Phase II - ADVANCE: Atherosclerotic Disease Vascular Function and Genetic Epid
... emiology - Stanford University School of Medicine. Search This Site Only. Phase II Genotyping Strategy Initial Whole Genome Scan. In the first stage of the ADVANCE whole genome scan we will use the Infinium II Whole Genome Genotyping Assay that was developed by Illumina, Inc. Following hybridization, a single base extension reaction is performed in parallel for all SNPs being interrogated on the BeadArray. Third, unlike several other ultra-high throughput genotyping methods, almost all regions of the human genome are amplified and assayable with the Illumina system, generating highly accurate genotypes with very low no call rates. In our hands, the Infinium II assay has performed remarkably well, with call rates 99.93% and accuracy rates 99.99%. SNPs for the 12K platform will be selected based on several criteria: strength of signal from the association study, size of potential regions and/or candidate genes involved, degree of linkage disequilibrium in these regions, presence of coding SNPs in these regi...
http://med.stanford.edu/advance/phase2/genotyping.html
*  Expressivity (genetics)
Expressivity genetics. Expressivity genetics. In genetics, 'expressivity' quantifies variation in a non-binary phenotype across individuals carrying a particular genotype. It is equal to the proportion of individuals carriers of a genotype for a trait who show the trait to a specifiable extent as in the "shades of blue" example below. This differs from penetrance, the term that measures how often a gene generates its associated phenotype to any extent that makes an individual carrier different from the wild type. Expressivity therefore characterizes non-binary qualitatively or quantitatively the extent of phenotypic variation 'within' a particular genotype. With binary phenotypes e.g., albino vs. wild type expressivity and penetrance are the same. The term is analogous to the severity of a condition in clinical medicine. For example, the volume of blood ejected from the pumping heart with each contraction, relative to the total amount of blood contained in the heart's chamber can be quantified by echocardio...
https://en.wikipedia.org/wiki/Expressivity_(genetics)
*  Genotype test questions
POZ Community Forums. HIV Prevention and Testing Am I Infected. Stats Total Posts: 675769 Total Topics: 52431 Online Today: 157 Online Ever: 585 January 07, 2014, 02:31:47 PM. Anyone who needs to post more than three messages in the "Am I Infected?" forum -- including past, present and future POZ Forums members -- will need to subscribe, with secure payments made via PayPal. NOTE: HIV testing questions will still need to be posted in the "Am I Infected?" forum; attempts to post HIV symptoms or testing questions in any other forums will be considered violations of our rules of membership and subject to time-outs and permanent bans. To learn how to upgrade your Forums account to participate beyond three posts in the "Am I Infected?" Forum, please click here. Re: Genotype test questions Reply #1 on: September 10, 2006, 09:52:35 AM. Re: Genotype test questions Reply #2 on: September 10, 2006, 10:14:09 AM. Re: Genotype test questions Reply #3 on: September 10, 2006, 07:09:30 PM. Re: Genotype test questions Reply #...
http://forums.poz.com/index.php?topic=3713.msg42199
*  View Individual Genotype Batch
... dbVar ClinVar GaP PubMed Nucleotide Protein. Search small variations in dbSNP or large structural variations in dbVar Search Entrez. dbSNP dbVar. for. Have a question about dbSNP. Try searching the SNP FAQ Archive. GENERAL RSS Feed. Contact Us Site Map dbSNP Homepage NCBI Variation Resources Announcements. dbSNP Summary. FTP Download HUMAN VARIATION Search, Annotate, Submit Annotate and Submit Batch Data with Clinical Impact Attributes for Filtering Variation. SNP SUBMISSION How to Submit Handle Request. DOCUMENTATION dbSNP Fact Sheet. Build Release Note Build History Search FAQ Archive dbSNP Handbook Overview SNP Science Primer Database Schema Database Dictionary Database Changes Genotype Schema Data Formats. Docsum Schema. Heterozygosity Computation SEARCH Variation Reporter Variation Viewer Entrez SNP EUtils API Blast SNP Batch Query. Genotype Query. By Submitter. New Batches. Method Population Detail Publication. RELATED SITES NCBI Variation resources dbVar dbGaP ClinVar GTR dbMHC. See Human Variatio...
http://ncbi.nlm.nih.gov/projects/SNP/snp_viewBatch.cgi?ibid=503161
*  Visit to Dr. Amin. My viral genotype shows the virus...
visit to dr amin my viral genotype shows the virus jabberwocky for october entry previous january february march april may june july august september october november december next thu oct visit to dr amin my viral genotype shows the virus is resistent to all the protease inhibitors but there are other things he wants to try i talked him into waiting until i get back from london to start a medicine changes i have to go in for a colonoscopy bleah frances whitney...
http://crummy.com/jabberwocky/2002/10/10/0
*  PFDS: Contiguous US
-based precipitation frequency estimates with 90% confidence intervals in. 2-day - - - - - - - - - -. 3-day - - - - - - - - - -. 4-day - - - - - - - - - -. 7-day - - - - - - - - - -. 10-day - - - - - - - - - -. 20-day - - - - - - - - - -. 30-day - - - - - - - - - -. 45-day - - - - - - - - - -. 60-day - - - - - - - - - -. 1 Precipitation frequency PF estimates in this table are based on frequency analysis of. Please refer to NOAA Atlas 14 document for more information. Estimates from the table in csv format: precipitation frequency estimates upper bounds lower bounds all. Duration: 5-min 10-min 15-min 30-min 60-min 2-hr 3-hr 6-hr 12-hr 24-hr 2-day 3-day 4-day 7-day 10-day 20-day 30-day 45-day 60-day. PF in GIS format Spatially interpolated precipitation frequency estimates with upper and lower bounds of the 90% confidence interval area available in GIS compatible format ascii file. duration: 5-minute 10-minute 15-minute 30-minute 60-minute 2-hour 3-hour 6-hour 12-hour 24-hour 2-day 3-day 4-day 7-day 10-day 20-...
http://hdsc.nws.noaa.gov/hdsc/pfds/pfds_map_cont.html?bkmrk=ar
*  PFDS: Contiguous US
-based precipitation frequency estimates with 90% confidence intervals in. 2-day - - - - - - - - - -. 3-day - - - - - - - - - -. 4-day - - - - - - - - - -. 7-day - - - - - - - - - -. 10-day - - - - - - - - - -. 20-day - - - - - - - - - -. 30-day - - - - - - - - - -. 45-day - - - - - - - - - -. 60-day - - - - - - - - - -. 1 Precipitation frequency PF estimates in this table are based on frequency analysis of. Please refer to NOAA Atlas 14 document for more information. Estimates from the table in csv format: precipitation frequency estimates upper bounds lower bounds all. Duration: 5-min 10-min 15-min 30-min 60-min 2-hr 3-hr 6-hr 12-hr 24-hr 2-day 3-day 4-day 7-day 10-day 20-day 30-day 45-day 60-day. PF in GIS format Spatially interpolated precipitation frequency estimates with upper and lower bounds of the 90% confidence interval area available in GIS compatible format ascii file. duration: 5-minute 10-minute 15-minute 30-minute 60-minute 2-hour 3-hour 6-hour 12-hour 24-hour 2-day 3-day 4-day 7-day 10-day 20-...
http://hdsc.nws.noaa.gov/hdsc/pfds/pfds_map_cont.html?bkmrk=ut
*  Announcements - GOV.UK
... Skip to main content. GOV.UK uses cookies to make the site simpler. Find out more about cookies. GOV.UK. Search. Search. Menu. Departments. Worldwide. How government works. Get involved. Policies. Publications. Consultations. Statistics. Announcements. Announcements. You can use the filters to show only results that match your interests. Filter announcements. Contains. Announcement type All announcement types Fatality notices Government responses News stories Press releases Speeches Statements. Policy area All policy areas. Arts and culture Borders and immigration Business and enterprise Children and young people Climate change Community and society Consumer rights and issues Crime and policing Defence and armed forces Employment Energy Environment Equality, rights and citizenship Europe Financial services Food and farming Foreign affairs Further education and skills Government efficiency, transparency and accountability Government spending Higher education Housing International aid and development Law a...
https://gov.uk/government/announcements?keywords=&announcement_type_option=all&topics[]=all&departments[]=all&world_locations[]=estonia
*  Error
... Search. Members. Rules. Portal. Welcome Guest. Daytime Royalty. Follow @DaytimeRoyalty. Hello, soap fans -- and welcome to Daytime Royalty! For those unfamiliar, we are an uncensored community for fans and lovers of the daytime genre. We have a no-holds-barred atmosphere in regards to the shows, writers, actors etc. but we do not allow member bashing in any form. You're currently viewing our forum as a guest. This means you are limited to certain areas of the board and there are some features you can't use. If you join our community, you'll be able to access member-only sections, and use many member-only features such as customizing your profile, sending personal messages, and voting in polls. Registration is simple, fast, and completely free. Join our community! If you're already a member, please log in to your account to access all of our features. Username:. Password:. Log In. Error: You do not have permission to reply to a topic in this forum. Error Code: 12004:1180302. Choose...
http://daytimeroyaltyonline.com/post/?mode=2&type=2&f=10048&t=8778157&p=8938735&qhash=0f9d0c6cec0bf6eb955b58d2a509b711
*  JCVI: Effects of Human TRIM5alpha Polymorphisms on Antiretroviral Function and Susceptibility to Hum
... an Immunodeficiency Virus Infection. Sustainable Lab. Publications. Education. Press. Careers. Contact. Listing. Publications. Citation. Javanbakht, H., An, P., Gold, B., Petersen, D. W., O'Brien, S. J., Kirk, G. D., Detels, R., Buchbinder, S., Donfield, S., Shulenin, S., Song, B., Perron, M. J., Stremlau, M., Sodroski, J., Dean, M., Winkler, C. Effects of Human TRIM5alpha Polymorphisms on Antiretroviral Function and Susceptibility to Human Immunodeficiency Virus Infection. Virology. 2006 Oct 10; 354 1 : 15-27. PubMed Citation. Abstract. TRIM5alpha acts on several retroviruses, including human immunodeficiency virus HIV-1, to restrict cross-species transmission. Using natural history cohorts and tissue culture systems, we examined the effect of polymorphism in human TRIM5alpha on HIV-1 infection. In African Americans, the frequencies of two non-coding SNP variant alleles in exon 1 and intron 1 of TRIM5 were elevated in HIV-1-infected persons compared with uninfected subjects. By contrast, the frequency of...
http://jcvi.org/cms/publications/listing/abstract/article/effects-of-human-trim5alpha-polymorphisms-on-antiretroviral-function-and-susceptibility-to-human-imm/
*  Blood Journal | Prevalence of the Inactivating 609C→T Polymorphism in the NAD(P)H:Quinone Oxidored
Prevalence of the Inactivating 609C→T Polymorphism in the NAD P H:Quinone Oxidoreductase NQO1 Gene in Patients With Primary and Therapy-Related Myeloid Leukemia. Prevalence of the Inactivating 609 C→T Polymorphism in the NAD P H:Quinone Oxidoreductase NQO1 Gene in Patients With Primary and Therapy-Related Myeloid Leukemia. Smith. Of the 45 leukemia patients who had clonal abnormalities of chromosomes 5 and/or 7, 7 16% were homozygous for the inactivating polymorphism, 17 38% were heterozygous, and 21 47% had 2 wild-type alleles for NQO1. Thus, the frequency of an inactivating polymorphism in NQO1 appears to be increased in this cohort of myeloid leukemias, especially among those with t-AML or an abnormality of chromosomes 5 and/or 7. The frequency of the NQO1 polymorphism was significantly increased among all 104 patients P = .050 and among the 56 patients with t-AML P = .036 compared with the frequency expected. Frequency of the NQO1 Polymorphism in Primary and Therapy-Related Myeloid Leukemia. Frequency of ...
http://bloodjournal.org/content/94/2/803.full?sso-checked=true
*  JCVI: Lack of association between TLR4 Asp299Gly polymorphism and atherosclerosis: evidence from met
... a-analysis. Home. About. Research. Sustainable Lab. Publications. Education. Giving. Press. Careers. Contact. Listing. About. . Publications. Citation. Zhang K, Zhang L, Zhou B, Wang Y, Song Y, Rao L. Lack of association between TLR4 Asp299Gly polymorphism and atherosclerosis: evidence from meta-analysis. Thrombosis research. 2012 Aug 01;. External Citation. Abstract. INTRODUCTION: Toll like receptor 4 TLR4 expression was found to increase markedly in human atherosclerotic lesions, notably on macrophages and endothelial cells. TLR4 Asp299Gly polymorphism was associated with a blunted receptor activity and a subsequently diminished inflammatory response, and may subsequently reduce atherosclerosis AS risk. However, the results of molecular epidemiological studies remained inconsistent. MATERIALS AND METHODS: The PubMed, CNKI databases were searched for all articles available. The OR corresponding to the 95% confidence interval 95% CI was used to assess the association between TLR4 Asp299Gly polymorphism an...
http://jcvi.org/cms/publications/listing/abstract/article/lack-of-association-between-tlr4-asp299gly-polymorphism-and-atherosclerosis-evidence-from-meta-anal/
*  Java polymorphism question - Stack Overflow
... Stack Overflow. Meta Stack Overflow. Stack Overflow Careers. stack overflow careers. Stack Overflow Questions. Java polymorphism question. abstract class A { abstract void a1 ; void a2 { } } class B extends A { void a1 { } void a2 { } } class C extends B { void c1 { } } and: A x = new B ; C y = new C ; A z = new C ; What are four valid examples of polymorphic method calls. java polymorphism scjp share. improve this question. add a comment. Answer C won't compile method isn't defined in the declared class. improve this answer. answered Dec 24 '09 at 23:58. add a comment. up vote 8 down vote. Polymorphism is simply defined as when the reference type and object type are different. The reference type of anim Animal is different than its object type Dog so anim is a polymorphic reference. Dynamic binding means that the method that actually runs is the method that is farthest down the class hierarchy between the reference type and object type. Being able to have the method that runs depend on the object type i...
http://stackoverflow.com/questions/1960091/java-polymorphism-question
*  TRAF1 Gene Polymorphism Correlates with the Titre of Gp210 Antibody in Patients with Primary Biliary
traf gene polymorphism correlates with the titre of gp antibody in patients with primary biliary cirrhosis table table autoantibody titers in patients subgrouped according to rs traf polymorphism autoantibodies genotype cc genotype tt ama gp sp actin centromere chromatin rfigg ccp scl jo rna poliii ro...
http://hindawi.com/journals/jir/2012/487521/tab5/
*  Gene polymorphism
... thumb right genes which control hair colour are polymorphic a gene is said to be polymorphic if more than one allele occupies that gene s locus within a population http www biology online org dictionary genetic polymorphism a polymorphic variant of a gene may lead to the abnormal expression or to the production of an abnormal form of the gene this may cause or be associated with disease for example a polymorphic variant of the enzyme cyp a in which thymidine replaces cytosine at the gene s nucleotide position encodes a cyp a protein that substitutes phenylalanine with serine at the protein s amino acid position this variant protein has reduced enzyme activity in metabolizing arachidonic acid to the blood pressure regulating eicosanoid hydroxyeicosatetraenoic acid humans bearing this variant in one or both of their cyp a genes have an increased incidence of hypertension ischemic stroke and coronary artery disease cardiol rev jan feb doi crd b e review examples of polymorphic genes drd ankk comt maoa cyp a...
https://en.wikipedia.org/wiki/Gene_polymorphism
*  Rs28363170
rs rs in genetics rs dat vntr is a genetic variation at slc a the gene that encodes the dopamine transporter it is polymorphism as a base pairs vntr in the untranslated region it is an deletion insertion polymorphism dip http www ncbi nlm nih gov snp snp ref cgi rs rs the repeat and the repeat are the most common alleles references further category genetic polymorphisms...
https://en.wikipedia.org/wiki/Rs28363170
*  Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic as
... sociation study. Partnerships Philanthropy Careers Contact Us. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. News & Publications:Scientific Publications Common genetic variants on chromosome 9p21 confers risk of ischemic stroke: a large-scale genetic association study. Read More / View Supplemental Materials Linking RNA biology to lncRNAs. Read More / View Supplemental Materials Ethanol Enhances TGF-β Activity by Recruiting TGF-β Receptors from Intracellular Vesicles/Lipid Rafts/Caveolae to Non-lipid Raft Microdomains. Read More / View Supplemental Materials American Diabetes Association and JDRF Research Symposium: Diabetes and the Microbiome. Read More / View Supplemental Materials. Scientific Pu...
https://broadinstitute.org/publications/broad3337
*  Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: No association with Graves' dise
Use of Tag single nucleotide polymorphisms SNPs to screen PTPN21: No association with Graves' disease - ResearchGate. Article Use of Tag single nucleotide polymorphisms SNPs to screen PTPN21: No association with Graves' disease. Impact Factor: 3.46. ABSTRACT The protein-tyrosine-phosphate nonreceptor 22 gene PTPN22 has recently been identified as a susceptibility locus for a number of autoimmune diseases including Graves' disease GD. The aim of this study was to determine whether PTPN21 is acting as a GD susceptibility locus in UK Caucasian subjects. A case control association study of seven Tag single nucleotide polymorphisms SNPs rs1469602, rs8007288, rs1998670, rs11622270, rs2274736, rs2295136 and rs366476 selected to predict 51 un-genotyped polymorphisms present within PTPN21. No association of any of the seven Tag SNPs was detected with GD. Preliminary evidence of association of rs2274736 was found with younger age of GD onset 0-30 years OR = 1. Using a Tag SNP approach we screened PTPN21 as a suscep...
http://researchgate.net/publication/6869124_Use_of_Tag_single_nucleotide_polymorphisms_(SNPs)_to_screen_PTPN21_no_association_with_Graves'_disease
*  Unbound MEDLINE : An association study of single nucleotide polymorphisms of the FOXP3 intron-1 and
... the risk of Psoriasis vulgari. Genetic Predisposition to Disease. An association study of single Unbound MEDLINE. An association study of single nucleotide polymorphisms of the FOXP3 intron-1 and the risk of Psoriasis vulgaris. To elucidate the association between the FOXP3 gene and the risk of PV, 408 patients diagnosed with PV and 363 age and sex-matched healthy controls from a cohort of the Chinese majority Han population were recruited. Four single nucleotide polymorphisms rs2232365, rs3761547, rs3761548 and rs3761549 of the FOXP3 gene were analyzed using the polymerase chain reaction and ligase detection reaction. The major allele of three single nucleotide polymorphisms SNPs - rs2232365 A, rs3761547 A and rs3761549 C were associated with an increased risk of PV in a clinical subgroup of female patients, who were less than 40 yrs of age, had a family history of the disease and did not have disease complications p 0.05 for all parameters. Therefore, the FOXP3 polymorphisms appear to contribute to the...
http://unboundmedicine.com/medline/citation/22435141/abstract/An_association_study_of_single_nucleotide_polymorphisms_of_the_FOXP3_intron_1_and_the_risk_of_Psoriasis_vulgaris_
*  WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute m
... yeloid leukemia in a Chinese population - ResearchGate. For full functionality of ResearchGate it is necessary to enable JavaScript. Here are the instructions how to enable JavaScript in your web browser. Article WT1 mutations and single nucleotide polymorphism rs16754 analysis of patients with pediatric acute myeloid leukemia in a Chinese population. Xi Chen. Xi Chen. Remove suggestion. Yongchen Yang. Yongchen Yang Fudan University Message author. Remove suggestion. Yi Huang. Yi Huang. Remove suggestion. Junjie Tan. Junjie Tan. Remove suggestion. Yuanyuan Chen. Yuanyuan Chen. Remove suggestion. Jing Yang. Jing Yang. Remove suggestion. Center for Clinical Molecular Medicine, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital, Chongqing Medical University, Chongqing, China. Leukemia lymphoma. Impact Factor: 2.89. 04/2...
http://researchgate.net/publication/224050693_WT1_mutations_and_single_nucleotide_polymorphism_rs16754_analysis_of_patients_with_pediatric_acute_myeloid_leukemia_in_a_Chinese_population
*  Identification of TRIM22 single nucleotide polymorphisms ass... : AIDS
Identification of TRIM22 single nucleotide polymorphisms ass... Enter your Email address:. Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining your privacy and will not share your personal information without your express consent. AIDS Wolters Kluwer Health Logo. Identification of TRIM22 single nucleotide polymorphisms ass... Identification of TRIM22 single nucleotide polymorphisms associated with loss of inhibition of HIV-1 transcription and advanced HIV-1 disease Ghezzi, Silvia a ; Galli, Laura b ; Kajaste-Rudnitski, Anna a ; Turrini, Filippo a ; Marelli, Sara a ; Toniolo, Daniela c ; Casoli, Claudio d,e ; Riva, Agostino d ; Poli, Guido f,g ; Castagna, Antonella b ; Vicenzi, Elisa a. Objective s : Tripartite motif-containing 22 TRIM22 is an interferon-induced protein that inhibits HIV-1 transcription and replication in vitro. Two single nucleotide missense polymorphisms rs7935564A/G SNP-1 and rs1063303C/G SNP-2 characterize the coding sequence of human TRI...
http://journals.lww.com/aidsonline/Abstract/2013/09240/Identification_of_TRIM22_single_nucleotide.2.aspx
*  RePub, Erasmus University Repository: Evaluation of functional single nucleotide polym
... orphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis. Erasmus Research Institute of Management ERIM. Rotterdam School of Management RSM. Erasmus MC: University Medical Center Rotterdam. Erasmus School of Law. International Institute of Social Studies ISS. Erasmus MC: University Medical Center Rotterdam /. Human Immunology /. Evaluation of functional single nucleotide polymorphisms of different genes coding for the immunoregulatory molecules in patients with monoclonal large granular lymphocyte lymphocytosis Human Immunology, Volume 69 - Issue 2 p. TCRαβ+/CD4+T-large granular lymphocyte LGL lymphocytosis is a subgroup of monoclonal T-LGL lymphoproliferative disorders that are different from the CD8+TCRαβT-LGL. Overall, 38 patients with CD4+T-LGL were analyzed and compared with a group of both CD8+/TCRαβ+T-LGL patients n = 43 and a group of control subjects n = 176. Our results did not show any clear association between the...
http://repub.eur.nl/pub/29361/
*  ORBi: D'Onofrio Mara - The interplay of two single nucleotide polymorphisms in the CACNA1A gene may
... contribute to migraine susceptibility. Reference : The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribu... To cite this reference: http://hdl.handle.net/2268/23519. Title : The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. Author, co-author : D'Onofrio, Mara. Keywords : Calcium Channels/genetics ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Male ; Migraine with Aura/genetics ; Polymorphism, Single Nucleotide. BM and HM may thus share common genetic features. In the present study, two single nucleotide polymorphisms SNPs of the CACNA1A gene were characterized in a population of migraine patients and healthy controls. The polymorphisms, E918D, predicting a glutamic acid-to-aspartic acid substitution at codon 918 and E993V, predicting a glutamic acid-to-valine substitution at codon 993, were frequently detected among patients and controls. Seven BM, 10 SHM, ...
http://orbi.ulg.ac.be/handle/2268/23519
*  ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis
... of β-thalassaemia : Clinical Chemistry and Laboratory Medicine. Multi-Volume Works. Clinical Chemistry and Laboratory Medicine CCLM. Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine EFLM. 12 Issues per year. IMPACT FACTOR 2014: 2.707 Rank 6 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition SCImago Journal Rank SJR 2014: 0.741 Source Normalized Impact per Paper SNIP 2014: 1.011 Impact per Publication IPP 2014: 2.310. Issue Journal/Yearbook. Volume. Issue. Issues. Volume 53 2015. Issue 10 Sep 2015, pp. 1481-1653 Issue 9 Aug 2015, pp. Issue 8 Jul 2015, pp. 1127-1296 Issue s1 Jun 2015. Issue 7 Jun 2015, pp. 959-1125 Issue 6 May 2015, pp. 829-958 Special issue: 1st EFL... Issue 5 Apr 2015, pp. Congress of Clinical Chemistry and Laboratory Medicine / 10th Annual Meeting of the German Society for Clinical Chemistry and Laboratory Medicine DGKL, Dresden, Germany, 23rd–26th October, 2013*. Thal...
http://degruyter.com/dg/viewarticle/j$002fcclm.2010.48.issue-12$002fcclm.2010.331$002fcclm.2010.331.xml
*  A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitiz
... ation and their interaction with birth order - ResearchGate. Article A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. We sought to identify common genetic variant associations with prevalent AR and grass sensitization using existing genome-wide association study GWAS data and to determine whether genetic variants modify the protective effect of older siblings. This relatively large meta-analysis of GWASs identified few loci associated with AR and grass sensitization. Among the 17 loci previously identified by GWAS as associated with allergic rhinitis, four were associated with allergic rhinitis with P value ≤ 0.05 in our study Additional file 8: Table S3. Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. 6 of the 22 GWAS loci with P-value ≤ 1x10−6 tagged one particular coexpression module 4.0-fold enri...
http://researchgate.net/publication/51755456_A_genome-wide_meta-analysis_of_genetic_variants_associated_with_allergic_rhinitis_and_grass_sensitization_and_their_interaction_with_birth_order
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Chromosome. Text Cloud for Tissue Expression. Text Cloud for GO Term. cGMP binding 1. integral to plasma membrane 1. intracellular cGMP activated cation channel activity 1. ion channel activity 1. nucleotide binding 1. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for OMIM Term. Achromatopsia-3, 1. Text Cloud for GAD Term. achromatopsia 1. cGMP binding integral to plasma membrane intracellular cGMP activated cation...
http://pfs.nus.edu.sg/(S(3btkptgjenrz22bc2uqgbxhj))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=54714
*  Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear F
... amilies. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. Linkage and Association Analyses of Microsatellites and Single-Nucleotide Polymorphisms in Nuclear Families. ; Liu, Kuang-Yu Note: Order does not necessarily reflect citation order of authors. Linkage and association analyses of microsatellites and single-nucleotide polymorphisms in nuclear families. Several simulation studies have suggested that a high-density single-nucleotide polymorphisms SNPs marker set may be as useful as a traditional microsatellites MS marker set in performing whole-genome linkage analysis. In the present study, we compared the linkage results from the SNPs-based scan with a map density of 3-cM spacing with those from the MS scan using a 10-cM marker set among 300 nuclear families each from the Aipotu AI, Danacaa DA, and Karangar KA populations from the simu...
http://dash.harvard.edu/handle/1/4734538
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression. Brain 1. SuperiorCervicalGanglion 1. UterusCorpus 1. Text Cloud for GO Term KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway OMIM. Text Cloud for GAD Term. View SNP in this gene C4orf30 FLJ20280 MGC126765 MGC126767. Adipocyte AdrenalCortex Appendix Blood Leukemia Bonemarrow Brain Colon FetalBrain FetalLiver FetalLung FetalThyroid HBEC Heart Kidney Liver Lung LymphNode L...
http://pfs.nus.edu.sg/(S(jtzqqndbf1e1dgytlsvh4ylb))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=54876
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression GO Term. Text Cloud for GO Term. protein amino acid dephosphorylation 1. protein tyrosine phosphatase activity 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. HSC HSCANDPROGENITORS ADULT 1. HSC HSCANDPROGENITORS FETAL 1. HSC HSCANDPROGENITORS SHARED 1. Text Cloud for OMIM Term GAD. Text Cloud for GAD Term. View SNP in this gene PTPN20A MGC142033 bA142I17.1. phosphor...
http://pfs.nus.edu.sg/(S(2ak4vbznkj2jwhwqo40tonpo))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=653129
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Text Cloud for Tissue Expression. Brain 1. SkeletalMusclePsoas 1. SpinalCord 1. SuperiorCervicalGanglion 1. Text Cloud for GO Term. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. Text Cloud for OMIM Term. Text Cloud for GAD Term. View SNP in this gene RPGRIP1 CORD9 DKFZp686P0897 LCA6 RGI1 RGRIP RPGRIP RPGRIP1d. Adipocyte AdrenalCortex Blood Leukemia Bonemarrow Brain Colon FetalBrain FetalLiver FetalLung FetalTh...
http://pfs.nus.edu.sg/(S(ytusuuxh5jtqa3vbnskslf20))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=57096
*  PMID:18594024
PUBLICATIONS. FEEDBACK. SIGN IN. Pharmacogenomics. Overview. SAB. History. CPIC. CPIC. Genes/Drugs. Alleles. Members. Search. Search. Genes. Drugs. Diseases. Pathways. Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis by Sarasquete Maria E, García-Sanz Ramon, Marín Luis, Alcoceba Miguel, Chillón Maria C, Balanzategui Ana, Santamaria Carlos, Rosiñol Laura, de la Rubia Javier, Hernandez Miguel T, Garcia-Navarro Inmaculada, Lahuerta Juan J, González Marcos, San Miguel Jesus F in Blood 2008. We have explored the potential role of genetics in the development of osteonecrosis of the jaw ONJ in multiple myeloma MM patients under bisphosphonate therapy. A genome-wide association study was performed using 500 568 single nucleotide polymorphisms SNPs in 2 series of homogeneously treated MM patients, one with ONJ 22 MM cases and another without ONJ 65 matched MM controls. Four SNPs rs19...
https://pharmgkb.org/pmid/18594024
*  Single Nucleotide Polymorphism - SNPedia
... Toggle navigation. SNPedia. Visit https://www.reddit.com/r/SNPedia. Single Nucleotide Polymorphism From SNPedia Redirected from SNP Jump to: navigation , search. A Single Nucleotide Polymorphism is also known as a SNP or snp pronounced 'snip'. The importance of SNPs comes from their ability to influence disease risk, drug efficacy and side-effects, tell you about your ancestry, and predict aspects of how you look and even act. SNPs are probably the most important category of genetic changes influencing common diseases. And in terms of common diseases, 9 of the top 10 leading causes of death have a genetic component and thus most likely one or more SNPs influence your risk. DNA SNPs Genetics 101 Part 2: What are SNPs. But at certain locations there are differences - these variations are called polymorphisms. Polymorphisms are what make individuals different from one another. While many variations SNPs are known, most have no known effect and may be of little or no importance. The emphasis in SNPedia is on...
http://snpedia.com/index.php/SNP
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 6 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Bonemarrow 1. Colon 1. HBEC 1. Prostate 1. Salivarygland 1. SuperiorCervicalGanglion 1. T cells 1. Thymus 1. Tonsil 1. UterusCorpus 1. GO Term. Text Cloud for GO Term KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. HADDAD HPCLYMPHO ENRICHED 1. HADDAD HSC CD10 UP 1. HASLINGER ...
http://pfs.nus.edu.sg/(S(moxkwigjrxtyc3p2vcfit4rp))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=8346
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 22 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Liver 1. Lung 1. LymphNode 1. Pancreas 1. Prostate 1. SmoothMuscle 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tonsil 1. Trachea 1. UterusCorpus 1. WholeBlood JJV 1. GO Term. Text Cloud for GO Term. hydrolase activity 1. membrane 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association...
http://pfs.nus.edu.sg/(S(jcj2vq41rcsjr1d15smekd51))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=23753
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 10 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. HBEC 1. Heart 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Pancreas 1. Prostate 1. SmoothMuscle 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1. TrigeminalGanglion 1. UterusCorpus 1. WholeBlood JJV 1. GO Term. Text Cloud for GO Term. intracellular 1. mRNA processing 1. ...
http://pfs.nus.edu.sg/(S(gqsakss4maalmhat2pj4tawv))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=84991
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 15 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. SuperiorCervicalGanglion 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1....
http://pfs.nus.edu.sg/(S(ihuxckvolbc3hwcfbufjvnwp))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=9990
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 19 1. Tissue Expression. Text Cloud for Tissue Expression. Brain 1. FetalBrain 1. SpinalCord 1. GO Term. Text Cloud for GO Term. beta-catenin binding 1. catenin complex 1. microtubule binding 1. protein binding 1. protein complex assembly 1. regulation of progression through cell cycle 1. signal transduction 1. Wnt receptor signaling pathway 1. KEGG Path. Text Cloud for KEGG Path. Basal cell carcinoma 1. Colorectal cancer 1. Endometrial cancer 1. Regulation of act...
http://pfs.nus.edu.sg/(S(0fjsxff4khsrcdzd14moyyzt))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=10297
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 2 1. Tissue Expression. Text Cloud for Tissue Expression. FetalLiver 1. FetalLung 1. FetalThyroid 1. Lung 1. Thyroid 1. GO Term. Text Cloud for GO Term. extracellular space 1. lipid metabolic process 1. lysosome 1. organ morphogenesis 1. proteinaceous extracellular matrix 1. regulation of liquid surface tension 1. respiratory gaseous exchange 1. sphingolipid metabolic process 1. KEGG Path. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for Phar...
http://pfs.nus.edu.sg/(S(vmz0xnpiclru1a0uaelhz4yg))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=6439
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 4 1. Tissue Expression. Text Cloud for Tissue Expression. Blood Leukemia 1. Brain 1. Colon 1. FetalBrain 1. FetalLung 1. FetalThyroid 1. Heart 1. Kidney 1. Lung 1. LymphNode/Spleen 1. Nose/Brain 1. Pancreas 1. Prostate 1. SkeletalMusclePsoas 1. SmoothMuscle 1. SpinalCord 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. GO Term. Text Cloud for GO Term. adenine transmembrane transporter activity 1. binding 1. generation of precursor metabolites and energy 1. i...
http://pfs.nus.edu.sg/(S(1ffdk1u5fgtkcwbrpjyk5naq))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=291
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 14 1. Tissue Expression. Text Cloud for Tissue Expression GO Term. Text Cloud for GO Term. embryonic skeletal morphogenesis 1. epithelial cell differentiation 1. inner ear morphogenesis 1. myoblast migration 1. nucleus 1. pattern specification process 1. protein binding 1. regulation of neuron differentiation 1. regulation of transcription, DNA-dependent 1. sensory perception of sound 1. sequence-specific DNA binding 1. striated muscle development 1. thymus develo...
http://pfs.nus.edu.sg/(S(otjlftbvcitznmx4ksbz5wbk))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=6495
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 12 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1. Trachea 1. TrigeminalGangli...
http://pfs.nus.edu.sg/(S(wsciynekpyl1hfophx4wctwb))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=1337
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. X 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. FetalLung 1. FetalThyroid 1. HBEC 1. Kidney 1. Lung 1. Pancreas 1. Prostate 1. Salivarygland 1. Thyroid 1. Trachea 1. GO Term. Text Cloud for GO Term. amine oxidase activity 1. behavior 1. catecholamine metabolic process 1. dopamine catabolic process 1. electron transport 1. integral to membrane 1. membrane 1. mitochondrion 1. oxidoreductase activity 1. protein binding 1. KEGG Path. Text Cloud ...
http://pfs.nus.edu.sg/(S(ucladbo0uistoaothyaffwmx))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=4128
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
Potentially Functional Single Nucleotide Polymorphism SNP Search Engine. . pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. We will review your rating and improve our site accordingly. Tweet. Mouse over each column header to see if the genes are enriched in any key terms e.g: Co-expressed in certain tissue or resides in same pathway. Gene Name. Chr. Text Cloud for Chromosome. 22 1. Tissue Expression. Text Cloud for Tissue Expression. Adipocyte 1. AdrenalCortex 1. Appendix 1. Blood Leukemia 1. Bonemarrow 1. Brain 1. Colon 1. FetalBrain 1. FetalLiver 1. FetalLung 1. FetalThyroid 1. HBEC 1. Heart 1. Kidney 1. Liver 1. Lung 1. LymphNode 1. LymphNode/Spleen 1. Nose/Brain 1. Ovary 1. Pancreas 1. Prostate 1. Salivarygland 1. SmoothMuscle 1. SpinalCord 1. SuperiorCervicalGanglion 1. T cells 1. Testis 1. Thymus 1. Thyroid 1. Tongue 1. Tonsil 1....
http://pfs.nus.edu.sg/(S(33jo1rvwerzaewzhxugnlapw))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=8398
*  BMC Genetics | Abstract | Effects of single nucleotide polymorphism marker density on degree of gene
bmc genetics abstract effects of single nucleotide polymorphism marker density on degree of genetic variance explained and genomic evaluation for carcass traits in japanese black beef cattle biomedcentral com bmcgenet article bottom top biomed central journals gateways search bmc genetics biomed central for go advanced search home articles authors reviewers about this journal my bmc genetics bmc genetics complex traits and quantitative genetics volume viewing options abstract full text pdf kb epub kb associated material pubmed record article metrics open badges readers comments related literature cited by google blog search other articles by authors on google scholar ogawa s matsuda h taniguchi y watanabe t nishimura s sugimoto y iwaisaki h on pubmed ogawa s matsuda h taniguchi y watanabe t nishimura s sugimoto y iwaisaki h related articles pages on google on google scholar on pubmed tools download references download xml order reprints post a comment download to papers mendeley download to papers mendeley sh...
http://biomedcentral.com/1471-2156/15/15/abstract
*  Minnesota Supercomputing Institute - Tutorial Details: Single Nucleotide Polymorphisms (SNP) Assoc
minnesota supercomputing institute tutorial details single nucleotide polymorphisms snp associations analysis using helixtree software campuses twin cities crookston duluth morris rochester other locations university relations http www umn edu urelate myu onestop minnesota supercomputing institute log out of mymsi tutorial details single nucleotide polymorphisms snp associations analysis using helixtree software date thursday april pm pm location walter instructor s wayne xu msi single nucleotide polymorphisms snp make individuals different color susceptibility to diseases productivity etc however there are millions of snps in humans which snps are associated with particular phenotypes helixtree is a powerful software tool for studying snp association with disease or drug response it also analyzes single marker and haplotype calculates ld and hwe identifies tagging snps and more in this tutorial we will walk through this software using sample data level prerequisites genetics...
https://msi.umn.edu/tutorial/302
*  BMC Genomics | Full text | Identification of genome-wide single nucleotide polymorphisms in allopoly
bmc genomics full text identification of genome wide single nucleotide polymorphisms in allopolyploid crop brassica napus biomedcentral com bmcgenomics article bottom top biomed central journals gateways search bmc genomics biomed central for go advanced search home articles authors reviewers about this journal my bmc genomics top abstract background results discussion conclusions methods competing interests authors contributions acknowledgements references bmc genomics plant genomics volume viewing options abstract full text pdf mb epub kb associated material pubmed record article metrics open badges ...
http://biomedcentral.com/1471-2164/14/717
*  Critical Care | Full text | TNFalpha promoter single nucleotide polymorphisms may influence gene exp
critical care full text tnfalpha promoter single nucleotide polymorphisms may influence gene expression in patients with severe sepsis ccforum com article cc bottom top biomed central journals gateways search critical care biomed central for go advanced search home articles authors reviewers about this journal my critical care top introduction methods results conclusion critical care volume suppl viewing options full text pdf mb associated material article metrics open badges readers comments related literature cited by google blog search other articles by authors on google scholar odwyer m white m mcmanus r ryan t related articles pages on google on google scholar tools download references download xml order reprints post a comment download to papers mendeley download to papers mendeley share this article tweet more options citeulike linkedin del icio us email...
http://ccforum.com/content/11/S2/P448
*  Twelve-Single Nucleotide Polymorphism Genetic Risk Score Identifies Individuals at Increased Risk fo
... r Future Atrial Fibrillation and Stroke. Partnerships Philanthropy Careers Contact Us. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. News & Publications:Scientific Publications Twelve-Single Nucleotide Polymorphism Genetic Risk Score Identifies Individuals at Increased Risk for Future Atrial Fibrillation and Stroke. Read More / View Supplemental Materials Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Read More / View Supplemental Materials Ethanol Enhances TGF-β Activity by Recruiting TGF-β Receptors from Intracellular Vesicles/Lipid Rafts/Caveolae to Non-lipid Raft Microdomains. Read More / View Supplemental Materials American Diabetes Association and JDRF Research S...
https://broadinstitute.org/publications/broad5991
*  Association study of the single nucleotide polymorphisms in adiponectin-associated genes with type 2
... diabetes in Han Chinese - ResearchGate. For full functionality of ResearchGate it is necessary to enable JavaScript. Here are the instructions how to enable JavaScript in your web browser. Article Association study of the single nucleotide polymorphisms in adiponectin-associated genes with type 2 diabetes in Han Chinese. Yabing Wang. Yabing Wang Xuanwu hospital Message author. Remove suggestion. Di Zhang. Di Zhang. Remove suggestion. Yun Liu. Yun Liu Chinese Academy of Sciences Message author. Remove suggestion. Yifeng Yang. Yifeng Yang. Remove suggestion. Teng Zhao. Teng Zhao. Remove suggestion. Jie Xu. Jie Xu China University of Mining Technology Message author. Remove suggestion. Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China. Journal of Genetics and Genomics. Impact Factor: 3.59. 07/2009; 36 7 :417-23. DOI: 10.1016/S1673-8527 08 60131-9 Source: PubMed. ABSTRACT Single-nucleotide polymorphisms SNPs of ADIPOQ, ADIPOR1...
http://researchgate.net/publication/26695045_Association_study_of_the_single_nucleotide_polymorphisms_in_adiponectin-associated_genes_with_type_2_diabetes_in_Han_Chinese
*  High-resolution whole-genome association study of Parkinson disease. | ALZFORUM
High-resolution whole-genome association study of Parkinson disease. ALZFORUM. Jump to the Navigation Menu. Login to My AlzForum. Jump to the Search form. Paper. Tools Email. Share. How would you like to share. Facebook Twitter LinkedIn Back to the Top. Maraganore DM, de Andrade M, Lesnick TG, Strain KJ, Farrer MJ, Rocca WA, Pant PV, Frazer KA, Cox DR, Ballinger DG. High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet. 2005 Nov;77 5 :685-93. PubMed. Recommends Please login to recommend the paper. Comments Make a Comment Comments on this Paper Andrew Singleton National Institutes of Health. Posted: 19 Apr 2006. The publication of this first genome-wide single nucleotide polymorphism SNP association study in Parkinson disease PD has created considerable debate in the field. The most public parts of this discussion include four follow-up articles Clarimon et al., 2006; Farrer et al., 2006; Li et al., 2006; and Gorris et al., 2006 and a short introductory piece Myers, 2006, all curr...
http://alzforum.org/papers/high-resolution-whole-genome-association-study-parkinson-disease
*  Genizon BioSciences Inc Licenses Crohns Disease GeneMap To Genentech Inc Results Of Whole Genome
... Association Study To Be Used To Support Development Of. Post Jobs. Jobs. Career Fairs. Company Profiles. Search Life Sciences Jobs. News by Disease. Search News. Genizon BioSciences Inc. Licenses Crohn's Disease GeneMap To Genentech, Inc. DNA ; Results Of Whole Genome Association Study To Be Used To Support Development Of New Therapeutics And Diagnostics. Genizon grants Genentech an exclusive license to Genizon's GeneMap of disease-associated genes generated from a whole genome association study of Crohn's disease patients from the Quebec Founder Population. Read at Canada NewsWire. Related News Genizon BioSciences Inc. Secures $12 Million; Company To Conduct Additional Whole-Genome Association Studies Generating Novel Drug Targets Scientists Reverse Evolution: Ancient Gene Reconstructed From Descendants Genizon BioSciences Inc. Raising Up To $17M Series C As It Prepares To Ink First Customers Researchers Identify Gene As Protector of DNA, Enemy of Tumors Genizon BioSciences Inc. Licenses Ingenuity Syste...
http://biospace.com/News/genizon-biosciences-inc-licenses-crohns-disease/26743
*  Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populat
... ions by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms - WestminsterResearch. . Home. About. Browse. Browse by Year. Browse by Research Community. Browse by Type. Browse by People. Browse by Full text. Advanced Search. Latest Additions. Login repository administrators only. Statistics. Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. Watkins, Nicholas A. and O'Connor, Marie N. and Rankin, A. and Jennings, Nicola S. and Wilson, E. and Harmer, Ian J. and Davies, L. and Smethurst, Peter A. and Dudbridge, F. and Farndale, Richard W. and Ouwehand, Willem H. 2006 Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. Journal of Thrombosis and Haemostasi...
http://westminsterresearch.wmin.ac.uk/3172/
*  Single-nucleotide polymorphism
... s may fall within coding sequences of gene s, non-coding regions of genes, or in the intergenic region s regions between genes. SNPs within a coding sequence do not necessarily change the amino acid sequence of the protein that is produced, due to degeneracy of the genetic code. Synonymous SNPs do not affect the protein sequence while nonsynonymous SNPs change the amino acid sequence of protein. SNPs in coding region s:. missense - single change in the base results in change in amino acid of protein and its malfunction which leads to disease e.g. The ' OMIM ' database describes the association between polymorphisms and diseases e.g., gives diseases in text form The Human Gene Mutation Database provides gene mutations causing or associated with human inherited diseases and functional SNPs The International HapMap Project, where researchers are identifying Tag SNP to be able to determine the collection of haplotypes present in each subject. — Introduction to SNPs from NCBI — SNP search — "a central reposito...
https://en.wikipedia.org/wiki/Single-nucleotide_polymorphism
*  Polymorphisms
... Protein Polymorphisms. Single Nucleotide Polymorphisms SNPs. Copy Number Polymorphisms CNPs. How are polymorphisms useful. Genetic Drift. Natural Selection. Natural vs. Polymorphisms. Link to an example. Protein Polymorphisms. All the examples above are of the protein products of alleles. Frog #8 was homozygous for allele E. Proteins are gene products and so polymorphic versions are simply reflections of allelic differences in the gene; that is, allelic differences in DNA. Most* RFLPs are created by a change in a single nucleotide in the gene, and so these are called single nucleotide polymorphisms SNP s. Single Nucleotide Polymorphisms SNPs. Alleles whose sequence reveals only a single changed nucleotide are called single nucleotide polymorphisms or SNPs. Copy Number Polymorphisms CNPs. Humans vary in the number of copies of AMY1 in their genome. In the case of AMY1 , the more copies present, the more enzyme that is produced. How a person adapts to a change in gene number for autosomal genes is unknown ...
http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/P/Polymorphisms.html
*  gms | 27. Deutscher Krebskongress | Single-nucleotide polymorphism (SNP) of ABCB1 transporter in col
Deutscher Krebskongress. Single-nucleotide polymorphism SNP of ABCB1 transporter in colorectal cancer patients and relation to the pharmacokinetics of irinotecan. German Medical Science English. DKK 2006. ber DKK 2006. Suche in DKK 2006 bersicht. Artikel. Artikel XML Version. Single-nucleotide polymorphism SNP of ABCB1 transporter in colorectal cancer patients and relation to the pharmacokinetics of irinotecan Meeting Abstract. Suche in Medline nach Farker K. Merkel U. Wedding U. Hippius M. Hoffmann A. Katrin Farker - Institut für Klinische Pharmakologie, Universitätsklinikum Jena, Deutschland. Ute Merkel - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Ulrich Wedding - Klinik für Innere Medizin II, Universitätsklinikum Jena. Marion Hippius - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Klaus Höffken - Klinik für Innere Medizin II, Universitätsklinikum Jena. Annemarie Hoffmann - Institut für Klinische Pharmakologie, Universitätsklinikum Jena. Deutscher Krebskongress. Düss...
http://egms.de/static/de/meetings/dkk2006/06dkk339.shtml
*  harbors genetic polymorphisms: Topics by Science.gov
Microsoft Academic Search. Microsoft Academic Search. Microsoft Academic Search. PubMed. We performed Key Words searches in the public databases PubMed, Medscape, and Rxlisty, Pharm GKB for genetic polymorphisms and the NCBI website for the nomenclature of alleles of CYP450, finding that CYP2D6, CYP2C9, CYP3A4, and CYP2D19 were involved in the metabolism of most antiepileptic drugs, given the allele frequency in the population and the associated variability in the clinical response. PMID:24896213. PubMed. PMID:23543093. Microsoft Academic Search. Microsoft Academic Search. PubMed. Significant associations were observed within the genotype frequencies, allele frequencies, and multi-single-nucleotide polymorphism SNP haplotype analysis of most polymorphisms studied. Most current genetic association studies, including genome-wide association studies, look for the single nucleotide polymorphisms SNPs with a relatively large minor allele frequency MAF e.g. Although the CDCV hypothesis has become the dogma guiding ...
http://science.gov/topicpages/h/harbors genetic polymorphisms.html
*  Potentially Functional Single Nucleotide Polymorphism (SNP) Search Engine
pfSNP Gene Information Collection. MY pfSNP Query Cite pfSNP About pfSNP Handy Tools Contact Us Rate this page. Please rate according to your overall satisfaction level of current page for it's presentation and functionality. SkeletalMusclePsoas 1. cytoskeleton 1. regulation of striated muscle contraction 1. Text Cloud for KEGG Path PharmGKB Reported Association. Text Cloud for PharmGKB Drug Response Association mSigDB Pathway. Text Cloud for mSigDB Pathway. BRENTANI CYTOSKELETON 1. HSA04810 REGULATION OF ACTIN CYTOSKELETON 1. RAC1PATHWAY 1. SMOOTH MUSCLE CONTRACTION 1. STRIATED MUSCLE CONTRACTION 1. calcium ion binding cytoskeleton motor activity myosin complex protein binding regulation of striated muscle contraction structural constituent of muscle. AGED RHESUS UP ALKPATHWAY BRENTANI CYTOSKELETON CCR3PATHWAY ECMPATHWAY HSA04510 FOCAL ADHESION HSA04530 TIGHT JUNCTION HSA04670 LEUKOCYTE TRANSENDOTHELIAL MIGRATION HSA04810 REGULATION OF ACTIN CYTOSKELETON INOS ALL DN MCALPAINPATHWAY METASTASIS ADENOCARC DN MY...
http://pfs.nus.edu.sg/(S(xewinxqv3trxth14o3zk0jvx))/FuncDetail_V1.aspx?Func=NCBI_Gene_LinkOut&FuncAddInfo=4633
*  Undergraduate Research Program at Dordt College
Human Resources. Directly connecting human disease etiology with rare variant test performance One of the most active areas in statistical genetics is the development of new rare variant tests of association. In reality, rare variant genotypes from next generation sequencing, SNP chip, and imputed data will all contain genotyping errors and the gene-based tests must be robust to accommodate imperfect data. Errors in SNP genotyping are already known to dramatically impact statistical power for single marker tests on common variants Gordon and Finch, 2005; Kang et al. We will work to utilize the rare variant genotype error models from sequencing calls and imputation to precisely quantify the impact of study design variables affecting genotype accuracy on rare variant tests. 2007 : The effects of SNP genotyping errors on the power of the Cochran-Armitage linear trend test for case/control association studies. Basu S., Pan W.: Comparison of statistical tests for disease association with rare variants. 2008 : Meth...
http://dordt.edu/academics/programs/math/statgen/projects.shtml
*  Publications Search
... Contact Us. Search. Discovering the causes of cancer and the means of prevention. DCEG Home. About DCEG. Contact DCEG. What We Study. Who We Study. How We Study. Public Health Impact of DCEG Research. Training Resources for Fellows and Staff. Tools Resources. Study Design/Planning Tools. News Events. Publications Search - Abstract View. Common single nucleotide polymorphisms in genes related to immune function and risk of papillary thyroid cancer. PMC3592848. Accumulating evidence suggests that alterations in immune function may be important in the etiology of papillary thyroid cancer PTC. To identify genetic markers in immune-related pathways, we evaluated 3,985 tag single nucleotide polymorphisms SNPs in 230 candidate gene regions adhesion-extravasation-migration, arachidonic acid metabolism/eicosanoid signaling, complement and coagulation cascade, cytokine signaling, innate pathogen detection and antimicrobials, leukocyte signaling, TNF/NF-kB pathway or other in a case-control study of 344 PTC cases a...
http://dceg2.cancer.gov/cgi-bin-pubsearch/pubsearch/abstract.pl?id=3724
*  Comprehensive functional annotation of 77 prostate cancer risk Loci. | Broad Institute of MIT and Ha
Comprehensive functional annotation of 77 prostate cancer risk Loci. Broad Institute of MIT and Harvard. Partnerships Philanthropy Careers Contact Us. What is Broad. Our Approach Areas of Focus History Leadership Who is Broad Partner Institutions Artist-in-Residence Media Center. Press Room News from the Broad Photos for Journalists Spotlight: Ebola Spotlight: CRISPR BroadMinded Blog Video Library For the Scientific Community. Scientific Publications Science Data Software. Scientific Publications Science Data Software. Home. News & Publications:Scientific Publications Comprehensive functional annotation of 77 prostate cancer risk Loci. Recent Broad Publications A non-synonymous single-nucleotide polymorphism associated with multiple sclerosis risk affects the EVI5 interactome. Read More / View Supplemental Materials An integrated map of structural variation in 2,504 human genomes. Read More / View Supplemental Materials Somatic mutation in single human neurons tracks developmental and transcriptional history....
http://broadinstitute.org/publications/broad5503
*  Division of Cancer Control & Population Sciences - Grant Details
Funding Opportunities. Apply for Cancer Control Grants. Reports + Data. Reports About DCCPS. DCCPS Public Data Sets Analyses. Project Title: Genome Wide Association Study of Head and Neck Cancer. Therefore, head and neck cancers are an excellent model for studying genetic susceptibility to environmental carcinogens. The primary goal of this R01 application is to perform a comprehensive two-stage, high-density, genome-wide single-nucleotide polymorphism SNP analysis of head and neck cancer cases and corresponding frequency matched controls to identify novel genetic risk factors for head and neck cancer. One of the unique features of our study is the availability of DNA repair assay data on most of the cases and controls in this study, which will allow us to conduct genotype/phenotype analyses. In aim 1, we will perform genotyping on 1000 randomly selected head and neck cancer cases and 500 controls using a 370K Illumina Infinium HapMap HumanCNV370-Duo SNP Chip. We will perform association analyses 1000 cases a...
http://maps.cancer.gov/overview/DCCPSGrants/abstract.jsp?applId=8434277&term=CA131324
*  A common genetic variant is associated with adult and childhood obesity.
... Document Detail. A common genetic variant is associated with adult and childhood obesity. MedLine Citation:. PMID: 16614226 Owner: NLM Status: MEDLINE. We used a dense whole-genome scan of DNA samples from the Framingham Heart Study participants to identify a common genetic variant near the INSIG2 gene associated with obesity. We have replicated the finding in four separate samples composed of individuals of Western European ancestry, African Americans, and children. Our study suggests that common genetic polymorphisms are important determinants of obesity. 10818406 - The genetics of obesity. Publication Detail:. Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Journal Detail:. Medline Journal Info:. Department of Genetics and Genomics, Boston University Medical School, E613, 715 Albany Street, Boston, MA 02118, USA. Adult African Americans Alleles Body Mass Index* Case-Control Studies Child Cohort Studies Europe European Continental Ancestry Group Female Gene Frequ...
http://biomedsearch.com/nih/common-genetic-variant-associated-with/16614226.html
*  Phys.org - nucleotide
... News tagged with nucleotide. 1 day. 1 week. 1 month. 1 week. 1 month. Last day. 1 week. 1 month. DNA sequencing improved by slowing down. EPFL scientists have developed a method that improves the accuracy of DNA sequencing up to a thousand times. The method, which uses nanopores to read individual nucleotides, paves the way for better - and cheaper - DNA sequencing. Sep 21, 2015 in Bio & Medicine. MINAMOTO Toshifumi Project Assistant Professor, Graduate School of Human Development and Environment, Kobe University, Dr. Sep 07, 2015 in Ecology. Jun 22, 2015 in Biotechnology. The DNA encoding all life on Earth is made of four building blocks called nucleotides, commonly known as "letters," that line up in pairs and twist into a double helix. May 27, 2015 in Biochemistry. Researchers find possible universal code of protein structure. Apr 23, 2015 in Biotechnology. Using powerful advances in imaging technology, researchers at Yale University have visualized a key component deep within the ribosome, the tiny c...
http://phys.org/tags/nucleotide/
*  PMID:19724244
FEEDBACK. SIGN IN. CPIC. CPIC. Genes/Drugs. Search. Search. Genes. Help. Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients by Laje Gonzalo, Allen Andrew S, Akula Nirmala, Manji Husseini, John Rush A, McMahon Francis J in Pharmacogenetics and genomics 2009. We have described earlier the association between treatment-emergent suicidal ideation TESI and markers in genes encoding glutamate receptor subunits GRIK2 and GRIA3. The present genome-wide association study was conducted to identify additional genetic markers associated with TESI that may help identify individuals at high risk who may benefit from closer monitoring, alternative treatments, and/or specialty care. DNA samples from 90 White participants who developed TESI and a sex-matched and race-matched equal number of treated participants who denied any suicidal ideas were genotyped with 109 365 single nucleotide polymorphisms on the Illumina's Human-1 BeadChip. RESULTS: One marker was found ...
https://pharmgkb.org/pmid/19724244
*  WGAViewer
... 'WGAViewer'. 1 is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study GWAS. Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium LD with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP. Introduction Functions. Authors. Applications References External links. Introduction. WGAViewer currently offers several classes of annotation of the GWAS results:. zooming in/out searching for gene/SNP top hits sorting with individual SNP annotation. align results with the latest genome build gene/transcripts context. 2 linkage disequilibrium context. 3 Annotation for SNPs :. LD score for all HapMap SNPs in specified region association with specified gene expression. 4 Gene/SNP finding : locat...
https://en.wikipedia.org/wiki/WGAViewer
*  Polymorphisms in the interleukin-7 receptor α gene and morta... : AIDS
Polymorphisms in the interleukin-7 receptor α gene and morta... Enter your Email address:. Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining your privacy and will not share your personal information without your express consent. AIDS Wolters Kluwer Health Logo. Top Cited Articles. Polymorphisms in the interleukin-7 receptor α gene and morta... Polymorphisms in the interleukin-7 receptor α gene and mortality in untreated HIV-infected individuals Hartling, Hans J. Objectives: Recently, polymorphisms in the gene encoding the interleukin-7 receptor α IL7Rα have been shown to influence the CD4 cell count in HIV-infected individuals. The objective of this study was to examine the impact of 10 single nucleotide polymorphisms SNPs in or in close proximity to the IL7Rα on mortality among 152 untreated HIV infected in a Zimbabwean cohort. Conclusion: The results suggest an association between the IL7Rα, rs6897932, T-allele and increased mortality among untreated HIV...
http://journals.lww.com/aidsonline/Abstract/2013/06190/Polymorphisms_in_the_interleukin_7_receptor___gene.10.aspx

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.Gene polymorphismWGAViewer: WGAViewer is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study (GWAS). Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium (LD) with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Genetic variation: right|thumbColes PhillipsSymmetry 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.Thermal cyclerChromosome regionsDisequilibrium (medicine): Disequilibrium}}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.Amplified fragment length polymorphismPanmixia: Panmixia (or panmixis) means random mating.King C and Stanfield W.DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).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.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.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.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.HLA-DQ: HLA-DQ (DQ) is a cell surface receptor protein found on antigen presenting cells. It is an αβ heterodimer of type MHC Class II.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 asIridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.OpsismodysplasiaSuppressor mutation: A suppressor mutation is a second mutation that alleviates or reverts the phenotypic effects of an already existing mutation. Genetic suppression therefore restores the phenotype seen prior to the original background mutation.Point mutationDNA 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.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.Multiple Loci VNTR Analysis: Multiple Loci VNTR Analysis (MLVA ) is a method employed for the genetic analysis of particular microorganisms, such as pathogenic bacteria, that takes advantage of the polymorphism of tandemly repeated DNA sequences. A "VNTR" is a "variable-number tandem repeat".Deletion (genetics)Missense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.GC box: In molecular biology, a GC box is a distinct pattern of nucleotides found in the promoter region of some eukaryotic genes upstream of the TATA box and approximately 110 bases upstream from the transcription initiation site. It has a consensus sequence GGGCGG which is position dependent and orientation independent.QRISK: QRISK2 (the most recent version of QRISK) is a prediction algorithm for cardiovascular disease (CVD) that uses traditional risk factors (age, systolic blood pressure, smoking status and ratio of total serum cholesterol to high-density lipoprotein cholesterol) together with body mass index, ethnicity, measures of deprivation, family history, chronic kidney disease, rheumatoid arthritis, atrial fibrillation, diabetes mellitus, and antihypertensive treatment.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.Intron: right|thumbnail|270px|Representation of intron and [[exons within a simple gene containing a single intron.]]Ligation-independent cloning: Ligation-independent cloning (LIC) is a form of molecular cloning that is able to be performed without the use of restriction endonucleases or DNA ligase. This allows genes that have restriction sites to be cloned without worry of chopping up the insert.Zuotin: Z-DNA binding protein 1, also known as Zuotin, is a Saccharomyces cerevisiae yeast gene.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.HLA B7-DR15-DQ6Branching 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.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).Molecular evolution: Molecular evolution is a change in the sequence composition of cellular molecules such as DNA, RNA, and proteins across generations. The field of molecular evolution uses principles of evolutionary biology and population genetics to explain patterns in these changes.HLA-A: HLA-A is a group of human leukocyte antigens (HLA) that are coded for by the HLA-A locus, which is located at human chromosome 6p21.3.Single-strand conformation polymorphism: Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions. This property allows sequences to be distinguished by means of gel electrophoresis, which separates fragments according to their different conformations.DNA-binding proteinPituitary-specific positive transcription factor 1: POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1), also known as POU1F1, is a transcription factor for growth hormone.HLA-C: HLA-C belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin.Signature-tagged mutagenesis: Signature-tagged mutagenesis (STM) is a genetic technique used to study gene function. Recent advances in genome sequencing have allowed us to catalogue a large variety of organisms' genomes, but the function of the genes they contain is still largely unknown.Copy number analysis: Copy number analysis usually refers to the process of analyzing data produced by a test for DNA copy number variation in patient's sample. Such analysis helps detect chromosomal copy number variation that may cause or may increase risks of various critical disorders.Mature messenger RNA: Mature messenger RNA, often abbreviated as mature mRNA is a eukaryotic RNA transcript that has been spliced and processed and is ready for translation in the course of protein synthesis. Unlike the eukaryotic RNA immediately after transcription known as precursor messenger RNA, it consists exclusively of exons, with all introns removed.Southern corn leaf blight: Southern corn leaf blight (SCLB) is a fungal disease of maize caused by the plant pathogen Bipolaris maydis (also known as Cochliobolus heterostrophus in its teleomorph state).CIITA: CIITA is a human gene which encodes a protein called the class II, major histocompatibility complex, transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively fight infection.Trinucleotide repeat disorder: Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where [repeats in certain gene]s exceed the normal, stable threshold, which differs per gene. The mutation is a subset of unstable [[Microsatellite (genetics)|microsatellite repeats that occur throughout all genomic sequences.BESS domain: In molecular biology, the BESS domain is a protein domain which has been named after the three proteins that originally defined the domain: BEAF (Boundary element associated factor 32), Suvar(3)7 and Stonewall ). The BESS domain is 40 amino acid residues long and is predicted to be composed of three alpha helices, as such it might be related to the myb/SANT HTH domain.Frameshift mutation: A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original.CS-BLASTUniparental 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.

(1/28798) Standardized nomenclature for inbred strains of mice: sixth listing.

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

(2/28798) Lack of genic similarity between two sibling species of drosophila as revealed by varied techniques.

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

(3/28798) Genetic heterogeneity within electrophoretic "alleles" of xanthine dehydrogenase in Drosophila pseudoobscura.

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

(4/28798) An overview of the evolution of overproduced esterases in the mosquito Culex pipiens.

Insecticide resistance genes have developed in a wide variety of insects in response to heavy chemical application. Few of these examples of adaptation in response to rapid environmental change have been studied both at the population level and at the gene level. One of these is the evolution of the overproduced esterases that are involved in resistance to organophosphate insecticides in the mosquito Culex pipiens. At the gene level, two genetic mechanisms are involved in esterase overproduction, namely gene amplification and gene regulation. At the population level, the co-occurrence of the same amplified allele in distinct geographic areas is best explained by the importance of passive transportation at the worldwide scale. The long-term monitoring of a population of mosquitoes in southern France has enabled a detailed study to be made of the evolution of resistance genes on a local scale, and has shown that a resistance gene with a lower cost has replaced a former resistance allele with a higher cost.  (+info)

(5/28798) Detailed methylation analysis of the glutathione S-transferase pi (GSTP1) gene in prostate cancer.

Glutathione-S-Transferases (GSTs) comprise a family of isoenzymes that provide protection to mammalian cells against electrophilic metabolites of carcinogens and reactive oxygen species. Previous studies have shown that the CpG-rich promoter region of the pi-class gene GSTP1 is methylated at single restriction sites in the majority of prostate cancers. In order to understand the nature of abnormal methylation of the GSTP1 gene in prostate cancer we undertook a detailed analysis of methylation at 131 CpG sites spanning the promoter and body of the gene. Our results show that DNA methylation is not confined to specific CpG sites in the promoter region of the GSTP1 gene but is extensive throughout the CpG island in prostate cancer cells. Furthermore we found that both alleles are abnormally methylated in this region. In normal prostate tissue, the entire CpG island was unmethylated, but extensive methylation was found outside the island in the body of the gene. Loss of GSTP1 expression correlated with DNA methylation of the CpG island in both prostate cancer cell lines and cancer tissues whereas methylation outside the CpG island in normal prostate tissue appeared to have no effect on gene expression.  (+info)

(6/28798) Identification of DNA polymorphisms associated with the V type alpha1-antitrypsin gene.

alpha1-Antitrypsin (alpha1-AT) is a highly polymorphic protein. The V allele of alpha1-AT has been shown to be associated with focal glomerulosclerosis (FGS) in Negroid and mixed race South African patients. To identify mutations and polymorphisms in the gene for the V allele of alpha1-AT in five South African patients with FGS nephrotic syndrome DNA sequence analysis and restriction fragment length polymorphisms of the coding exons were carried out. Four of the patients were heterozygous for the BstEII RFLP in exon III [M1(Val213)(Ala213)] and one patient was a M1(Ala213) homozygote. The mutation for the V allele was identified in exon II as Gly-148 (GGG)-->Arg (AGG) and in all patients was associated with a silent mutation at position 158 (AAC-->AAT). The patient who was homozygous for (Ala213) also had a silent mutation at position 256 in exon III (GAT-->GAC) which was not present in any of the other four patients. Although the V allele of alpha1-AT is not associated with severe plasma deficiency, it may be in linkage disequilibrium with other genes on chromosome 14 that predispose to FGS. Furthermore, the associated silent mutation at position 158 and the Ala213 polymorphism are of interest, as these could represent an evolutionary intermediate between the M1(Ala213) and M1(Val213) subtypes.  (+info)

(7/28798) The alphaE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells.

The acquisition of invasiveness is a crucial step in the malignant progression of cancer. In cancers of the colon and of other organs the E-cadherin/catenin complex, which is implicated in homotypic cell-cell adhesion as well as in signal transduction, serves as a powerful inhibitor of invasion. We show here that one allele of the alphaE-catenin (CTNNA1) gene is mutated in the human colon cancer cell family HCT-8, which is identical to HCT-15, DLD-1 and HRT-18. Genetic instability, due to mutations in the HMSH6 (also called GTBP) mismatch repair gene, results in the spontaneous occurrence of invasive variants, all carrying either a mutation or exon skipping in the second alphaE-catenin allele. The alphaE-catenin gene is therefore, an invasion-suppressor gene in accordance with the two-hit model of Knudsen for tumour-suppressor genes.  (+info)

(8/28798) Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma.

The association of p53 abnormalities with the prognosis of patients with non-small cell lung carcinoma (NSCLC) has been extensively investigated to date, however, this association is still controversial. Therefore, we investigated the prognostic significance of p53 mutations through exons 2 to 11 and p53 protein expression in 103 cases of stage I NSCLC. p53 mutations were detected in 49 of 103 (48%) tumors. Two separate mutations were detected in four tumors giving a total of 53 unique mutations in 49 tumors. Ten (19%) of mutations occurred outside exons 5-8. Positive immunohistochemical staining of p53 protein was detected in 41 of 103 (40%) tumors. The concordance rate between mutations and protein overexpression was only 69%. p53 mutations, but not expression, were significantly associated with a shortened survival of patients (P<0.001). Furthermore, we investigated the correlation between the types of p53 mutations and prognosis. p53 missense mutations rather than null mutations were associated with poor prognosis (P < 0.001 in missense mutations and P=0.243 in null mutations). These results indicated that p53 mutations, in particular missense mutations, rather than p53 expression could be a useful molecular marker for the prognosis of patients with surgically resected stage I NSCLC.  (+info)


What would you do if you found a recessive allele for a dangerous disease, but wanted children?


If you and your partner were both found positive for a recessive allele for a dangerous disease (cystic fibrosis) would you risk having a child? The childs risk of getting the disease is 25%. How would you deal with this situation? What kindof alternatives? Invitro? Syrogate?
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If you know your chances and feel that you could deal with them not only mentally but physically and financialy I say go for it. I would find out everything I could about the disease to be ready for any outcome. I would make sure my spouse was ready also and willing to overcome the high demands of a child with such a disability. From my understanding invitro would still be the same risk factor because it's still both of your genes being fertalized and then implanted into the mother, so that wouldn't be an alternative. The same thing for syrogacy, unless the syrogate is providing one of the eggs or you are getting a sperm donar, in wich case invitro would be an option again. If this is your situation I woudl call your dr and sit down with him/her. Have a list of questions you want answered and bring it with you, that way you won't forget what you want to find out. Keep an open mind about everything the Dr says. Also bring your spouse with you to this sit down, that way you both are given the info at the same time and you can have someone elses memory to help you recall what was said. Good luck with your decision.


Can you be a carrier of cystic fibrosis if you have two recessive alleles?


I know you can be a carrier with one dominant and one recessive allele (Ff), but I thought you might be a carrier because you have the disease, so you must be carrying it? Please help and i'll give you a quick best answer response. Thanks.
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Do you mean can someone who actually has cystic fibrosis be a carrier of cystic fibrosis?  If so, then yes, if someone actually has CF then they both have the actual disease and carry it, so should they ever have a baby (which some people with CF do) and their partner is also a CF carrier but doesn't have the disease then the baby could have CF too... The baby will most definitely receive a faulty copy of the gene from whichever parent has CF because the parent themselves have two faulty copies in order for them to have CF, but then the baby also receives a copy of the gene from it's other parent and if that other parent happens to be a carrier of CF (but doesn't have CF) then the baby could have CF, but if the other parent isn't a carrier at all then the baby wont have CF.  

The baby will need to receive two faulty copies to have CF.  Hope that's what you were asking and it makes sense.


If a disease is caused by a dominant allele, it means that a person with the disease?


a. 
 
will pass it on to 1/4 of their children.   
b. 
 
could be either homozygous or heterozygous for the allele.   
c. 
 
must be heterozygous for the allele.   
d. 
 
will always pass it on to all their children.   
e. 
 
must be homozygous dominant for the allele.
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Answer B...they can have a recessive allele underneath the dominant one (because the dominant will always show up).  And without knowing what the other gene is...we don't know what they may pass on to their children (more than 1/4 for sure).  There is no way of knowing if they are hetero or homozygous for the gene...and therefore we are not sure they will always pass it on (as that recessive can be passed as well).


When can a trait be expressed when only one allele for that trait is present?


Choices;

  a. When the allele is recessive.
b. When the allele is on the X chromosome in a female.
c. When the allele is on the X chromosome in the male.
d. When the allele is on the Y chromosome in the female.
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For a trait to be expressed when only one gene is present it is either an autosomal dominant gene or X-linked gene in a male. So the answer here would be C


What affect would a sickle cell vaccine have on the frequency of the sikle cell allele in Africa?


What affect would a sickle cell vaccine have on the frequency of the sickle cell allele in Africa? If the vaccine works will the sickle cell allele be removed from the world?
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it is a genetic disorder. There is no vaccine for this genetic disorder.
Sickle cell anemia is a serious condition in which the red blood cells can become sickle-shaped (that is, shaped like a “C”). 

http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html


Anyone else have a lack of taste alleles?


If your not sure what those are, they're basically what determine how things taste like and allow you to taste certain things.  I found out a couple years ago in biology with some weird paper.  Me and 1 other person ate the paper and to us, it was just normal paper.  No taste no nothing.

When I looked around everyone else was spitting the thing out and complaining about a horrible taste.  The teacher then told us that the ones who didn't taste anything lack some big taste receptors and taste many foods differently.

Coincidentally I've always been picky eater.....So my question is does anyone else know they lack taste alleles and is also a picky eater?
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I know the paper you're talking about tasting (or not tasting in your case).  Don't get too worked up about it.  Just because you couldn't taste the paper doesn't mean you lack taste alleles.  Alleles are just one form of a gene in your DNA sequence.  Just because you couldn't taste the paper, don't mean you can't taste, it just means you have a different form of taste.  It may be related to your picky eating, but who knows for sure.


Why does the allele in cystic fibriosis give protection against cholera?


cholera, which causes severe diarrhea leading to dehydration.  The allele (version of gene) that causes cystic fibrosis gives at least partial immunity to cholera.  Why is this true
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In more recent years scientist identified the advantages of mutant CFTR carriers surviving cholera.  The lethal strain of Cholera, Vibrio cholerae, produces a toxin that binds to the cells of the small intestine opening all of the transmembrance regulating ducts pumping out considerable amounts of chloride ions and water — about five gallons a day1.  If the salt and water are not quickly replaced the infected person dies of dehydration.  Sherif Gabriel, a cell physiologist of UNC Chapel Hill, experimented with mice that carried the CF mutation and cholera.  Not surprisingly, the intestines of mice with cystic fibrosis infected with cholera secreted no fluid.  They lacked chloride channels.  The amazing discovery he found was that mice that carried one mutant CFTR gene secreted only half the liquid than the non-carrying mice.  Gabriel concluded that when cholera infected humans that carried a mutant CFTR, half as much fluid secretion may have been enough to flush the intestines of the toxin without succumbing to diarrhea, dehydration and death2. This selective advantage to the many European outbreaks of cholera may explain the high frequency of the gene mutation in Caucasian people of European decent.  This argument, however, has been challenged recently on the basis of time.


Phenylketonuria (PKU) is an inherited disease caused by a recessive allele. If a woman and her husband?


Phenylketonuria (PKU) is an inherited disease caused by a recessive allele. If a woman and her husband are both carriers, what is the probability that their children will inherit the disease?
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Since they both have one normal and one mutated gene, they each have two possible genes to pass onto their babies. Thus 1/2 X 1/2 = 1/4.

The probability that their baby will have PKU is 1/4.