Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.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.Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.Mice, Inbred C57BLCells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.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 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.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Immunophenotyping: Process of classifying cells of the immune system based on structural and functional differences. The process is commonly used to analyze and sort T-lymphocytes into subsets based on CD antigens by the technique of flow cytometry.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.Gene Expression Regulation, Developmental: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Homozygote: An individual in which both alleles at a given locus are identical.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Bacterial Proteins: Proteins found in any species of bacterium.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.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.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.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.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)Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.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.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.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.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.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.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.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.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Cell Proliferation: All of the processes involved in increasing CELL NUMBER including CELL DIVISION.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.Arabidopsis: A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.Flow Cytometry: Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.Genetic Variation: Genotypic differences observed among individuals in a population.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.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.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).Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Arabidopsis Proteins: Proteins that originate from plants species belonging to the genus ARABIDOPSIS. The most intensely studied species of Arabidopsis, Arabidopsis thaliana, is commonly used in laboratory experiments.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.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Cell Transformation, Neoplastic: Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Homeodomain Proteins: Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Cell Line, Tumor: A cell line derived from cultured tumor cells.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Genes, Bacterial: The functional hereditary units of BACTERIA.Cell Movement: The movement of cells from one location to another. Distinguish from CYTOKINESIS which is the process of dividing the CYTOPLASM of a cell.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Syndrome: A characteristic symptom complex.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Gene Expression Regulation, Plant: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.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.Abnormalities, MultipleSaccharomyces 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.Animals, Genetically Modified: ANIMALS whose GENOME has been altered by GENETIC ENGINEERING, or their offspring.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.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.Genes, Fungal: The functional hereditary units of FUNGI.Gene Expression Regulation, Bacterial: Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.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.Virulence: The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.Fungal Proteins: Proteins found in any species of fungus.RNA Interference: A gene silencing phenomenon whereby specific dsRNAs (RNA, DOUBLE-STRANDED) trigger the degradation of homologous mRNA (RNA, MESSENGER). The specific dsRNAs are processed into SMALL INTERFERING RNA (siRNA) which serves as a guide for cleavage of the homologous mRNA in the RNA-INDUCED SILENCING COMPLEX. DNA METHYLATION may also be triggered during this process.Repressor Proteins: Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Mice, Inbred BALB CSequence 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.Apoptosis: One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.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.Antigens, CD: Differentiation antigens residing on mammalian leukocytes. CD stands for cluster of differentiation, which refers to groups of monoclonal antibodies that show similar reactivity with certain subpopulations of antigens of a particular lineage or differentiation stage. The subpopulations of antigens are also known by the same CD designation.Zebrafish: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. They are used in embryological studies and to study the effects of certain chemicals on development.Caenorhabditis elegans: A species of nematode that is widely used in biological, biochemical, and genetic studies.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Plants, Genetically Modified: PLANTS, or their progeny, whose GENOME has been altered by GENETIC ENGINEERING.Tumor Cells, Cultured: Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Temperature: The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.In Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.Morphogenesis: The development of anatomical structures to create the form of a single- or multi-cell organism. Morphogenesis provides form changes of a part, parts, or the whole organism.Stem Cells: Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.T-Lymphocytes: Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.Gene Targeting: The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Epithelial Cells: Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.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.Gene Expression Regulation, Neoplastic: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.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.Genes, Plant: The functional hereditary units of PLANTS.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.Trans-Activators: Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.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.Mice, Inbred Strains: Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.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.Gene Knockout Techniques: Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.Genes, Insect: The functional hereditary units of INSECTS.Recombinant Fusion Proteins: Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).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.Transgenes: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.Lymphocyte Activation: Morphologic alteration of small B LYMPHOCYTES or T LYMPHOCYTES in culture into large blast-like cells able to synthesize DNA and RNA and to divide mitotically. It is induced by INTERLEUKINS; MITOGENS such as PHYTOHEMAGGLUTININS, and by specific ANTIGENS. It may also occur in vivo as in GRAFT REJECTION.Down-Regulation: A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.Embryo, Nonmammalian: The developmental entity of a fertilized egg (ZYGOTE) in animal species other than MAMMALS. For chickens, use CHICK EMBRYO.Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.Up-Regulation: A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.Clone Cells: A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed)Pigmentation: Coloration or discoloration of a part by a pigment.Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Cytokines: Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner.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.Cell Adhesion: Adherence of cells to surfaces or to other cells.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Caenorhabditis elegans Proteins: Proteins from the nematode species CAENORHABDITIS ELEGANS. The proteins from this species are the subject of scientific interest in the area of multicellular organism MORPHOGENESIS.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.CD4-Positive T-Lymphocytes: A critical subpopulation of T-lymphocytes involved in the induction of most immunological functions. The HIV virus has selective tropism for the T4 cell which expresses the CD4 phenotypic marker, a receptor for HIV. In fact, the key element in the profound immunosuppression seen in HIV infection is the depletion of this subset of T-lymphocytes.Macrophages: The relatively long-lived phagocytic cell of mammalian tissues that are derived from blood MONOCYTES. Main types are PERITONEAL MACROPHAGES; ALVEOLAR MACROPHAGES; HISTIOCYTES; KUPFFER CELLS of the liver; and OSTEOCLASTS. They may further differentiate within chronic inflammatory lesions to EPITHELIOID CELLS or may fuse to form FOREIGN BODY GIANT CELLS or LANGHANS GIANT CELLS. (from The Dictionary of Cell Biology, Lackie and Dow, 3rd ed.)Fluorescent Antibody Technique: Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.Gene Knockdown Techniques: The artificial induction of GENE SILENCING by the use of RNA INTERFERENCE to reduce the expression of a specific gene. It includes the use of DOUBLE-STRANDED RNA, such as SMALL INTERFERING RNA and RNA containing HAIRPIN LOOP SEQUENCE, and ANTI-SENSE OLIGONUCLEOTIDES.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.Zebrafish Proteins: Proteins obtained from the ZEBRAFISH. Many of the proteins in this species have been the subject of studies involving basic embryological development (EMBRYOLOGY).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).Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.Plant Proteins: Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.Neoplasm Proteins: Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.Embryo, Mammalian: The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.Cell Lineage: The developmental history of specific differentiated cell types as traced back to the original STEM CELLS in the embryo.Cell Line, Transformed: Eukaryotic cell line obtained in a quiescent or stationary phase which undergoes conversion to a state of unregulated growth in culture, resembling an in vitro tumor. It occurs spontaneously or through interaction with viruses, oncogenes, radiation, or drugs/chemicals.Plant Leaves: Expanded structures, usually green, of vascular plants, characteristically consisting of a bladelike expansion attached to a stem, and functioning as the principal organ of photosynthesis and transpiration. (American Heritage Dictionary, 2d ed)Chromosome Deletion: Actual loss of portion of a chromosome.Green Fluorescent Proteins: Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.Recombinant Proteins: Proteins prepared by recombinant DNA technology.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.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.T-Lymphocyte Subsets: A classification of T-lymphocytes, especially into helper/inducer, suppressor/effector, and cytotoxic subsets, based on structurally or functionally different populations of cells.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.Gene Expression Regulation, Fungal: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.Actins: Filamentous proteins that are the main constituent of the thin filaments of muscle fibers. The filaments (known also as filamentous or F-actin) can be dissociated into their globular subunits; each subunit is composed of a single polypeptide 375 amino acids long. This is known as globular or G-actin. In conjunction with MYOSINS, actin is responsible for the contraction and relaxation of muscle.Neoplasm Invasiveness: Ability of neoplasms to infiltrate and actively destroy surrounding tissue.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)Gene Silencing: Interruption or suppression of the expression of a gene at transcriptional or translational levels.Eye ProteinsRNA, Small Interfering: Small double-stranded, non-protein coding RNAs (21-31 nucleotides) involved in GENE SILENCING functions, especially RNA INTERFERENCE (RNAi). Endogenously, siRNAs are generated from dsRNAs (RNA, DOUBLE-STRANDED) by the same ribonuclease, Dicer, that generates miRNAs (MICRORNAS). The perfect match of the siRNAs' antisense strand to their target RNAs mediates RNAi by siRNA-guided RNA cleavage. siRNAs fall into different classes including trans-acting siRNA (tasiRNA), repeat-associated RNA (rasiRNA), small-scan RNA (scnRNA), and Piwi protein-interacting RNA (piRNA) and have different specific gene silencing functions.Hair Color: Color of hair or fur.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Larva: Wormlike or grublike stage, following the egg in the life cycle of insects, worms, and other metamorphosing animals.Cell Aging: The decrease in the cell's ability to proliferate with the passing of time. Each cell is programmed for a certain number of cell divisions and at the end of that time proliferation halts. The cell enters a quiescent state after which it experiences CELL DEATH via the process of APOPTOSIS.Body Patterning: The processes occurring in early development that direct morphogenesis. They specify the body plan ensuring that cells will proceed to differentiate, grow, and diversify in size and shape at the correct relative positions. Included are axial patterning, segmentation, compartment specification, limb position, organ boundary patterning, blood vessel patterning, etc.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Aging: The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.Transformation, Genetic: Change brought about to an organisms genetic composition by unidirectional transfer (TRANSFECTION; TRANSDUCTION, GENETIC; CONJUGATION, GENETIC, etc.) and incorporation of foreign DNA into prokaryotic or eukaryotic cells by recombination of part or all of that DNA into the cell's genome.Drug Resistance: Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration.Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.Eye: The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Cell Culture Techniques: Methods for maintaining or growing CELLS in vitro.Cadherins: Calcium-dependent cell adhesion proteins. They are important in the formation of ADHERENS JUNCTIONS between cells. Cadherins are classified by their distinct immunological and tissue specificities, either by letters (E- for epithelial, N- for neural, and P- for placental cadherins) or by numbers (cadherin-12 or N-cadherin 2 for brain-cadherin). Cadherins promote cell adhesion via a homophilic mechanism as in the construction of tissues and of the whole animal body.Antigens, Surface: Antigens on surfaces of cells, including infectious or foreign cells or viruses. They are usually protein-containing groups on cell membranes or walls and may be isolated.Protein Isoforms: Different forms of a protein that may be produced from different GENES, or from the same gene by ALTERNATIVE SPLICING.Cell SeparationFlowers: The reproductive organs of plants.

*  Reply: TallyHo Diabetic Phenotype Limited to Male Mice: Fe... : Plastic and...
Home , April 2012 - Volume 129 - Issue 4 , Reply: TallyHo Diabetic Phenotype Limited to Male Mice: ... Reply: TallyHo Diabetic Phenotype Limited to Male Mice: Female Mice Provide Obese, Nondiabetic ... Reply: TallyHo Diabetic Phenotype Limited to Male Mice: Female Mice Provide Obese, Nondiabetic ... Sex dimorphism for the diabetic phenotype is commonly observed in murine models of type 2 diabetes ... ... Reply: TallyHo Diabetic Phenotype Limited to Male Mice: Fe... : Plastic and Reconstructive Surgery. AMERICAN SOCIETY OF PLASTIC SURGEONS. PLASTIC & RECONSTRUCTIVE SURGERY. Enter your Email address:. Subscribe. Login. About the Society. PRS Policy on Non-Receipt of Issue. Reply: TallyHo Diabetic Phenotype Limited to Male Mice: Fe... Next Article. A A Plastic Reconstructive Surgery: April 2012 - Volume 129 - Issue 4 - p 727e–728e doi: 10.1097/PRS.0b013e318245eb24 Letters. Reply: TallyHo Diabetic Phenotype Limited to Male Mice: Female Mice Provide Obese, Nondiabetic Mouse Model Buc...
http://journals.lww.com/plasreconsurg/Fulltext/2012/04000/Reply___TallyHo_Diabetic_Phenotype_Limited_to_Male.50.aspx
*  Biology-Online • View topic - phenotype and genotype ratio
but what if I have Rr Rr rr rr? Is the phenotype 2:2 and genotype 1:1? what about Rr Rr Rr Rr? My ... I'm confused about phenotype and genotype ratio after you do a monohybrid cross. for example, after ... Re: phenotype and genotype ratio. by niasdream90 » Wed Oct 01, 2008 7:53 pm ... Re: phenotype and genotype ratio. by Trevorwin » Thu Sep 15, 2011 7:45 am ......
http://biology-online.org/biology-forum/post-23925.html
*  SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to...
Human MutationVolume 30, Issue 7, Version of Record online: 3 MAR 2009 ......
http://onlinelibrary.wiley.com/doi/10.1002/humu.21006/pdf
*  KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like...
KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype. Kasparek, Petr ... however its inactivation is not sufficient to rescue the lethal phenotype of LEKTI-deficient mice. ......
http://umu.diva-portal.org/smash/record.jsf?pid=diva2:1086853
*  Gene-gene interaction analysis for the survival phenotype based on the...
... have been developed to identify SNP-SNP interactions using a binary phenotype for cas ......
http://ieeexplore.ieee.org/document/6112460/?reload=true
*  Plus it
Clinically apparent phenotypes were present in all patients (more than one phenotype in 44,2% ... The distribution of phenotypes in a population of severe COPD. Vladimir Koblizek, Jaromir Zatloukal ... The distribution of phenotypes in a population of severe COPD. Vladimir Koblizek, Jaromir Zatloukal ... The distribution of phenotypes in a population of severe COPD. Vladimir Koblizek, Jaromir Zatloukal ......
http://erj.ersjournals.com/content/44/Suppl_58/1938
*  Abstract 2782: Risk loci for a breast-colon cancer phenotype: results from a...
"Breast-colon phenotype" definition was based on 2 or more breast and colon cancer cases diagnosed ... Risk loci for a breast-colon cancer phenotype: results from a genome-wide association study. [ ... Abstract 2782: Risk loci for a breast-colon cancer phenotype: results from a genome-wide ... Abstract 2782: Risk loci for a breast-colon cancer phenotype: results from a genome-wide ......
http://cancerres.aacrjournals.org/content/75/15_Supplement/2782
*  Lack of association between oxidized LDL-cholesterol concentrations and...
Background: The haptoglobin (Hp) 2-2 phenotype has been known to have less antioxidative activity ... Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson ... Discusses the characterization of deletions of the ZFHX1B region and genotype-phenotype analysis in ... The relationship between Hp phenotypes and oxidative stress was therefore investigated in healthy ......
http://connection.ebscohost.com/c/articles/22630853/lack-association-between-oxidized-ldl-cholesterol-concentrations-haptoglobin-phenotypes-healthy-subjects
*  J11 Investigating phenocopies in a cohort of south african patients with a...
... cohort and may indicate the presence of novel genes and/mutations causing the HD-like phenotype. ... phenocopies in a cohort of south african patients with a huntington's disease-like phenotype ... phenocopies in a cohort of south african patients with a huntington's disease-like phenotype ......
http://jnnp.bmj.com/content/87/Suppl_1/A79.1
*  A common cancer-associated DNA polymerase ε mutation causes an exceptionally...
An analogous substitution in the yeast Pol epsilon produced an unusually strong mutator phenotype ... common cancer-associated DNA polymerase ε mutation causes an exceptionally strong mutator phenotype ... common cancer-associated DNA polymerase ε mutation causes an exceptionally strong mutator phenotype ... common cancer-associated DNA polymerase ε mutation causes an exceptionally strong mutator phenotype ......
http://cancerres.aacrjournals.org/content/early/2014/02/18/0008-5472.CAN-13-2892
*  Phenotype microarray
... The 'phenotype microarray' approach is a technology for high-throughput phenotyping of cells. A phenotype microarray system enables one to monitor simultaneously the phenotypic reaction of cells to environmental challenges or exogenous compounds in a high-throughput manner. The phenotypic reactions are recorded as either end-point measurements or respiration kinetics similar to growth curve s. Usages Technology Data structure Software References External links. Just as DNA microarrays and proteomic technologies have made it possible to assay the level of thousands of genes or proteins all a once, phenotype microarrays PMs make it possible to quantitatively measure thousands of cellular phenotypes all at once. 4 Advantages of PMs over standard growth curves are that cellular respiration can be measured in environmental conditions where cellular replication growth may not be possible,. 5 and that respiration reactions are usually detected much earlier than cellular growth. Comparable to bacterial growth cu...
https://en.wikipedia.org/wiki/Phenotype_microarray
*  Phenome
... A 'phenome' is the set of all phenotype s expressed by a cell, tissue, organ, organism, or species. Just as the genome and proteome signify all of an organism's genes and proteins, the phenome represents the sum total of its phenotypic traits. Examples of human phenotypic traits are skin color, eye color, body height, or specific personality characteristics. Although any phenotype of any organism has a basis in its genotype, phenotypic expression may be influenced by environmental influences, mutation, and genetic variation such as single nucleotide polymorphism s SNPs, or a combination of these factors. Phenomics is the study of the phenome and how it is determined, particularly when studied in relation to the set of all genes genomics or all proteins proteomics. Origin and usage See also References External links. Origin and usage. The phenome would be the material basis of the phenotype, just as the genome is the material basis of the genotype.". A proposed definition for both terms as the "physical t...
https://en.wikipedia.org/wiki/Phenome
*  Worm Phenotype (WP): lethal
Worm Phenotype WP : lethal. Home > Phenotype Ontology > lethal. SEARCH Keyword search. Sequence search. BROWSE Organisms. Taxonomy. Statistics. SCOP. Hierarchy. Ontologies. GO. EC. Phenotype TOOLS Compare genomes. Phylogenetic trees. Web services. Downloads. ABOUT Description. Publications. Documentation HELP User support. Contact us. Email list. Sitemap. Worm Phenotype WP : lethal show info. Phenotype Ontology Like Gene Ontology GO, phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph DAG by viewing an individual term as a node and its relations to parental terms allowing for multiple parents as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have in...
http://supfam.org/SUPERFAMILY/cgi-bin/phenotype.cgi?type=WP;po=WBPhenotype:0000062
*  Two-Stage Extreme Phenotype Sequencing Design for Discovering and Testing Common and Rare Genetic Va
... riants: Efficiency and Power - FullText - Human Heredity 2012, Vol. Search Advanced Search. Connecting the World of Biomedical Science. Journals. Books. Books Book News. Book Series. Complete Title Index. Collections. Collections Overview. eJournal Collection. eJournal Backfile Collection. eJournal Archive Collection. eBook Series Collection. eBook Non-Series Collection. eBook Collection German. eBook Archive Collection. Hospital Collection. Pharma Collection. Services. Services Subscriptions. Open Access. Rights Permissions. Media Relations. Customer Service. Downloads Journals and Book Series Catalogue. Book Information. Media Data. Customer Service Contact Form. Resources. Resources Authors. Media Relations. History. Contact Us Contact Information. Contact Form. Login. Login MyKarger Please login with your User ID and Password. Login with Facebook. Journal Contact. Rights and Permissions. Journal Contact. Two-Stage Extreme Phenotype Sequencing Design for Discovering and Testing Common and Rare Genetic ...
http://karger.com/Article/FullText/337300
*  Photo - Cardiovascular Core - National Mouse Metabolic Phenotyping Center - UMass Medical School - W
... orcester. Main Menu Home. Mission. Administration. Phenotyping Cores. Phenotyping Cores back. Phenotyping Cores. Metabolism Core. Metabolism Core back. Metabolism Core. Energy Metabolism Methods. Body Composition Methods. Hyperglycemic Clamp Methods. Hyperinsulinemic Clamp Methods. Induction of Obesity Methods. Metabolic Cages. Metabolic Cages Methods. Osmotic Pumps Methods. Survival Surgery Methods. Glucose Tolerance Test. Analytical Core. Analytical Core back. Analytical Core. Luminex. Signaling Methods. Cobas Methods. Photo Page. Cardiovascular Core. Cardiovascular Core back. Cardiovascular Core. Photo. . Fees. Fees back. Fees. Metabolism Fees. Analytical Fees. Cardiovascular Fees. Resources. Resources back. Resources. Diabetes Facts. Publications. F.A.Q. Contact Us. Utility Links. Open/Close Menu. Search. Advanced Search. Search. Advanced Search. UMass Mouse Phenotyping Center. Skip Navigation. Home. Mission. Administration. Phenotyping Cores. Metabolism Core. Energy Metabolism Methods. Body Compositi...
http://umassmed.edu/umpc/cores/cardiovascular/photo/
*  New Tool for Phenotypic Profiling Developed | GEN News Highlights | GEN
Analysis of the RNA-Seq and SCA ... Market & Tech Analysis. Jobs. Analysis of the RNA-Seq and SCA Publication Landscape RNA-Seq and SCA Could Have a... GEN News Highlights More » Jan 31, 2014 New Tool for Phenotypic Profiling Developed Page 1 of 1 Scientists at Dartmouth report the development of a novel biological pathway-based computational model to identify underlying genetic connections between different diseases. The pathway-based human phenotype network PHPN mines the data present in large publicly available disease datasets to find shared SNPs, genes, or pathways and expresses them in a visual form, according to the researchers. The Dartmouth team s study The Multiscale Backbone of the Human Phenotype Network based on Biological Pathways was published in BioDataMining this week. The PHPN uses information in human disease networks in conjunction with network science tools to show clusters of related disorders sharing common genetic backgrounds. In systems biology, human disease networks show interaction...
http://genengnews.com/gen-news-highlights/new-tool-for-phenotypic-profiling-developed/81249445/?kwrd=Genomics
*  MPD - Individual phenotype measurement plots
... Close window. . Phenotype measurement MPD:24412 Details, VT MP. Citing blood clinical chemistry enzymes ALP. metabolic panel. Yuan3. alkaline phosphatase serum ALP. ALP M12 MPD:24412 31 strains. aging study. Inbred. Show individuals only. Averages only. Females. Males. More detail options. Distrib.curve. Correlations and other tools. Overall summary. ALP M12. Mean strain avg Median strain avg SD of strain avgs Number of strains tested Min strain avg Max strain avg CV of strain avgs Sample sizes N average Animal variance metric. Females 118 104 82.9 31 35.2 507 0.705 7.1 0.15. Males 78.3 79.0 32.6 29 37.6 186 0.417 7.2 0.19. About these stats. Strain averages. ALP M12. Click on strain means to see individual animal values. Magnitude order / details CSV download Females Mean SD N. Males Mean SD N. 129S1/SvImJ 117 25.5 N=8. 129S1/SvImJ 51.9 16.7 N=8. A/J 68.3 16.6 N=6. A/J 85.1 10.5 N=16. AKR/J 75.5 4.95 N=2. AKR/J 69.0 16.6 N=3. BALB/cByJ 77.1 16.8 N=8. BALB/cByJ 80.1 24.6 N=8. BTBR T+ tf/J 64.5 18.1 N=8. ...
http://phenome.jax.org/db/qp?rtn=views/measplot&brieflook=24412
*  Mission - National Mouse Metabolic Phenotyping Center - UMass Medical School - Worcester
... Main Menu Home. Mission. Administration. Phenotyping Cores. Phenotyping Cores back. Phenotyping Cores. Metabolism Core. Metabolism Core back. Metabolism Core. Energy Metabolism Methods. Body Composition Methods. Hyperglycemic Clamp Methods. Hyperinsulinemic Clamp Methods. Induction of Obesity Methods. Metabolic Cages. Metabolic Cages Methods. Osmotic Pumps Methods. Survival Surgery Methods. Glucose Tolerance Test. Analytical Core. Analytical Core back. Analytical Core. Luminex. Signaling Methods. Cobas Methods. Photo Page. Cardiovascular Core. Cardiovascular Core back. Cardiovascular Core. Photo. . Fees. Fees back. Fees. Metabolism Fees. Analytical Fees. Cardiovascular Fees. Resources. Resources back. Resources. Diabetes Facts. Publications. F.A.Q. Contact Us. Utility Links. Open/Close Menu. Search. Advanced Search. Search. Advanced Search. UMass Mouse Phenotyping Center. Skip Navigation. Home. Mission. Administration. Phenotyping Cores. Metabolism Core. Energy Metabolism Methods. Body Composition Method...
http://umassmed.edu/umpc/mission/
*  phenotype - definition and meaning
Community. Word of the day. Random word. Log in or Sign up. phenotype love. Define. Relate. List. Discuss. Hear. Help Wordnik hunt for a million missing words by backing our Kickstarter. phenotype. Define. Relate. List. Discuss. Hear. un Love. n The observable physical or biochemical characteristics of an organism, as determined by both genetic makeup and environmental influences. n The expression of a specific trait, such as stature or blood type, based on genetic and environmental influences. n The appearance of an organism based on a multifactorial combination of genetic traits and environmental factors, especially used in pedigrees. We now know that genes modulate biological processes rather than features or traits by themselves, and that the phenotype is the net result of many processes. Sharma’s Obesity Notes Blog Archive Obesity Goes Viral. I believe this type of contingency therefore, to be a necessary condition for any change in phenotype requiring more than rudimentary changes genetically, more than...
https://wordnik.com/words/phenotype
*  Using correlated phenotypes to functionally classify GWAS loci.
... N Eriksson, J. Y Tung, D. A Hinds 23andMe, Mountain View, CA. While there have been thousands of genetic loci convincingly associated with hundreds of different phenotypes through GWAS, the function of only a few of these associations has been uncovered. New methods are needed in order to uncover the pathways through which these associations function. Luckily, there are a large number of pleiotropic relationships among these loci i.e., loci that affect multiple different phenotypes. This may occur with highly correlated traits e.g., eye color and hair color, modestly correlated traits e.g., different autoimmune diseases or even seemingly unrelated traits e.g., Parkinson's disease and baldness. Here, we take advantage of these pleiotropic effects across the wide range of phenotypes collected from 23andMe customers in order to cluster GWAS SNPs by functional category. We jointly model the correlation structure between a set of phenotypes using generalized estimating equations and look across all SNPs assoc...
http://ashg.org/2013meeting/abstracts/fulltext/f130123296.htm
*  CHST11
... 'Carbohydrate sulfotransferase 11' is an enzyme that in humans is encoded by the 'CHST11' gene. 1 2. Clinical relevance Model organisms References Further reading. Clinical relevance. Mutations in this gene have been associated to susceptibility for osteoarthritis. 3 Model organisms. Model organism s have been used in the study of CHST11 function. A conditional knockout mouse line called 'Chst11 tm1a KOMP Wtsi ' was generated at the Wellcome Trust Sanger Institute. 4 Male and female animals underwent a standardized phenotypic screen. 5. to determine the effects of deletion. 6 7. 8. 9. Additional screens performed: - In-depth immunological phenotyping. 10. - in-depth bone and cartilage phenotyping. 'Chst11' knockout mouse phenotype. Characteristic Phenotype. All data available at. 12. 13. Peripheral blood leukocytes 6 Weeks. bgcolor="#488ED3". Normal. Insulin. bgcolor="#488ED3". Normal. ' Haematology ' 6 Weeks. bgcolor="#488ED3". Normal. Homozygous viability at P14. bgcolor="#C40000". Abnormal. Recessive ...
https://en.wikipedia.org/wiki/CHST11
*  BACH2
... 'Transcription regulator protein BACH2' is a protein that in humans is encoded by the 'BACH2' gene. 1 2. 3. It contains a BTB/POZ domain at its N-terminus which forms a disulphide-linked dimer. 4. and a bZip Maf domain at the C-terminus. Model organisms References Further reading External links. Model organisms. Model organism s have been used in the study of BACH2 function. A conditional knockout mouse line called 'Bach2 tm1a EUCOMM Wtsi ' was generated at the Wellcome Trust Sanger Institute. 5 Male and female animals underwent a standardized phenotypic screen. 6. to determine the effects of deletion. 9. 10. Additional screens performed: - In-depth immunological phenotyping. 11. - in-depth bone and cartilage phenotyping. 12. 'Bach2' knockout mouse phenotype. Characteristic Phenotype. All data available at. 13. Peripheral blood leukocytes 6 Weeks. bgcolor="#C40000". Abnormal. ' Haematology ' 6 Weeks. bgcolor="#C40000". Abnormal. Insulin. bgcolor="#488ED3". Normal. Homozygous viability at P14. bgcolor="#4...
https://en.wikipedia.org/wiki/BACH2
*  KIAA0101
... 'PCNA-associated factor' is a protein that in humans is encoded by the 'KIAA0101' gene. 1 2. 3. Interactions Model organisms References Further reading. Interactions. KIAA0101 has been shown to interact with PCNA. Model organisms. Model organism s have been used in the study of KIAA0101 function. A conditional knockout mouse line called '2810417H13Rik tm1a EUCOMM Wtsi ' was generated at the Wellcome Trust Sanger Institute. 4 Male and female animals underwent a standardized phenotypic screen. 5. to determine the effects of deletion. 6 7. 8. 9. Additional screens performed: - In-depth immunological phenotyping. 10. - in-depth bone and cartilage phenotyping. 11. '2810417H13Rik' knockout mouse phenotype. Characteristic Phenotype. All data available at. 12. 13. Peripheral blood leukocytes 6 Weeks. bgcolor="#488ED3". Normal. ' Haematology ' 6 Weeks. bgcolor="#488ED3". Normal. Homozygous viability at P14. bgcolor="#488ED3". Normal. Homozygous Fertility. bgcolor="#488ED3". Normal. Body weight. bgcolor="#488ED3"....
https://en.wikipedia.org/wiki/KIAA0101
*  CIR (gene)
CIR gene. CIR gene 'Corepressor interacting with RBPJ 1' is a protein that in humans is encoded by the 'CIR1' gene. 1 2. 3. 4. Interactions Model organisms References Further reading. Interactions. CIR gene has been shown to interact with SNW1. 5 Model organisms. Model organism s have been used in the study of CIR1 function. A conditional knockout mouse line called 'Cir1 tm3a KOMP Wtsi ' was generated at the Wellcome Trust Sanger Institute. 6 Male and female animals underwent a standardized phenotypic screen. 7. to determine the effects of deletion. 8 9. 11. Additional screens performed: - In-depth immunological phenotyping. 12. - in-depth bone and cartilage phenotyping. 13. 'Cir1' knockout mouse phenotype. Characteristic Phenotype. All data available at. 14. 15. Peripheral blood leukocytes 6 Weeks. bgcolor="#488ED3". Normal. Insulin. bgcolor="#488ED3". Normal. ' Haematology ' 6 Weeks. bgcolor="#488ED3". Normal. Homozygous viability at P14. bgcolor="#C40000". Abnormal. Recessive lethal study. bgcolor="#C400...
https://en.wikipedia.org/wiki/CIR_(gene)
*  CTTNBP2
... 'Cortactin-binding protein 2' is a protein that in humans is encoded by the 'CTTNBP2' gene. 1 2. Function Interactions Model organisms References Further reading. Function. This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. Interactions. CTTNBP2 has been shown to interact with:. MOBKL3, PPP2CA, RP6-213H19.1,. 3 STRN3, and STRN. Model organisms. Model organism s have been used in the study of CTTNBP2 function. A conditional knockout mouse line called 'Cttnbp2 tm1b KOMP Wtsi ' was generated at the Wellcome Trust Sanger Institute. 4 Male and female animals underwent a standardized phenotypic screen. to determine the effects of deletion. 8. 9. Additional screens performed: - In-depth immunological phenotyping. 'Cttnbp2' knockout mouse phenotype. Characteristic Phenotype. All data available at. Peripheral blood leukocytes 6 Weeks. bgcolor="#488ED3". Normal. ' Haematology ' 6 Weeks. bgcolor="...
https://en.wikipedia.org/wiki/CTTNBP2
*  TGFB1I1
... 'Transforming growth factor beta-1-induced transcript 1 protein' is a protein that in humans is encoded by the 'TGFB1I1' gene. 1 2. Interactions Model organisms See also References External links Further reading. Interactions. TGFB1I1 has been shown to interact with PTPN12,. 3 PTK2,. 4. 5. Androgen receptor,. 6 7. PTK2B,. Dopamine transporter. 8. and Hsp27. 9 Model organisms. Model organism s have been used in the study of TGFB1I1 function. A conditional knockout mouse line called 'Tgfb1i1 tm1b KOMP Wtsi ' was generated at the Wellcome Trust Sanger Institute. 10. Male and female animals underwent a standardized phenotypic screen. 11. to determine the effects of deletion. 12. 13. 14. 15. Additional screens performed: - In-depth immunological phenotyping. 16. 'Tgfb1i1' knockout mouse phenotype. Characteristic Phenotype. All data available at. 17. Peripheral blood leukocytes 6 Weeks. bgcolor="#488ED3". Normal. ' Haematology ' 6 Weeks. bgcolor="#488ED3". Normal. Insulin. bgcolor="#488ED3". Normal. Homozygous...
https://en.wikipedia.org/wiki/TGFB1I1
*  MED22
... 'Mediator of RNA polymerase II transcription subunit 22' is an enzyme that in humans is encoded by the 'MED22' gene. 1 2. 3. Function Interactions Model organisms References Further reading. Function. This gene is located in the surfeit gene cluster, a group of very tightly linked housekeeping genes that do not share sequence similarity. The gene is oriented in a head-to-head fashion with RPL7A SURF3 and the two genes share a bidirectional promoter. The encoded proteins are localized to the cytoplasm. Two alternative transcript variants encoding different isoforms have been identified for this gene. Interactions. MED22 has been shown to interact with MED30. 4 Model organisms. Model organism s have been used in the study of MED22 function. A conditional knockout mouse line called 'Med22 tm1a EUCOMM Wtsi ' was generated at the Wellcome Trust Sanger Institute. 5 Male and female animals underwent a standardized phenotypic screen. to determine the effects of deletion. 7 8. 9. 10. Additional screens performed:...
https://en.wikipedia.org/wiki/MED22
*  NEK9
... 'Serine/threonine-protein kinase Nek9' is an enzyme that in humans is encoded by the 'NEK9' gene. 1 2. Interactions Model organisms References Further reading. Interactions. NEK9 has been shown to interact with: NEK6,. 3 4. 5. RAN, and SSRP1. 6 Model organisms. Model organism s have been used in the study of NEK9 function. A conditional knockout mouse line called 'Nek9 tm1a EUCOMM Wtsi ' was generated at the Wellcome Trust Sanger Institute. 7 Male and female animals underwent a standardized phenotypic screen. 8. to determine the effects of deletion. 9 10. 11. Additional screens performed: - In-depth immunological phenotyping. 13. 'Nek9' knockout mouse phenotype. Characteristic Phenotype. All data available at. 14. Peripheral blood leukocytes 6 Weeks. bgcolor="#488ED3". Normal. Insulin. bgcolor="#488ED3". Normal. ' Haematology ' 6 Weeks. bgcolor="#488ED3". Normal. Homozygous viability at P14. bgcolor="#C40000". Abnormal. Recessive lethal study. bgcolor="#C40000". Abnormal. Body weight. bgcolor="#488ED3". ...
https://en.wikipedia.org/wiki/NEK9
*  PLXNB3
... 'Plexin-B3' is a protein that in humans is encoded by the 'PLXNB3' gene. 1 2. Interactions Model organisms References Further reading. Interactions. PLXNB3 has been shown to interact with ARHGEF11. 3 4. Model organisms. Model organism s have been used in the study of PLXNB3 function. A conditional knockout mouse line called 'Plxnb3 tm1a KOMP Wtsi ' was generated at the Wellcome Trust Sanger Institute. 5 Male and female animals underwent a standardized phenotypic screen. 6. to determine the effects of deletion. 7 8. 9. 10. Additional screens performed: - In-depth immunological phenotyping. 11. 'Plxnb3' knockout mouse phenotype. Characteristic Phenotype. All data available at. { Peripheral blood leukocytes 6 Weeks. bgcolor="#488ED3". Normal. Insulin. bgcolor="#488ED3". Normal. ' Haematology ' 6 Weeks. bgcolor="#488ED3". Normal. Homozygous viability at P14. bgcolor="#488ED3". Normal. Homozygous Fertility. bgcolor="#488ED3". Normal. Body weight. bgcolor="#488ED3". Normal. Neurological assessment. bgcolor="#4...
https://en.wikipedia.org/wiki/PLXNB3
*  EXOC3L2
... 'Exocyst complex component 3-like 2' is a protein that in humans is encoded by the 'EXOC3L2' gene. 1 2. 3. The EXOC3L2 protein has been shown to interact with EXOC4 that is a component of the exocyst complex. 4 5. involved exocytosis and more specifically in the targeting of exocytic vesicles to the cell membrane. The exocyst complex is important for several biological processes, such as the establishment of cell polarity and regulation of cell migration. 6 The structure and functions of the exocyst complex are conserved from yeast to higher eukaryotes. Endothelial cells in blood vessels express high levels of EXOC3L2 that is required for proper VEGFR-2 signaling so that the endothelial cells can migrate towards the growth factor VEGF-A. 7 Model organisms. Model organism s have been used in the study of EXOC3L2 function. A conditional knockout mouse line called 'Exoc3l2 tm1b KOMP Wtsi ' was generated at the Wellcome Trust Sanger Institute. 8 Male and female animals underwent a standardized phenotypic scr...
https://en.wikipedia.org/wiki/EXOC3L2
*  FZD6
... 'Frizzled-6' is a protein that in humans is encoded by the 'FZD6' gene. Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for WNT signaling proteins. The FZD6 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and 7 transmembrane domains. However, unlike many other FZD family members, FDZ6 does not contain a C-terminal PDZ domain-binding motif. The FZD6 protein is believed to be the receptor for the WNT4 ligand. 4 Interactions See also Model organisms References External links Further reading. Interactions. FZD6 has been shown to interact with Secreted frizzled-related protein 1. Frizzled. Model organisms. Model organism s have been used in the study of FXYD3 function. In 2004, researchers at the Howard Hughes Medical Institute showed that FZD6 controls hair patterning in mice,. 6 and its human homologue is understood to play a part in the formation of hair whorl s and cowlick s. A conditional knockout mouse line...
https://en.wikipedia.org/wiki/FZD6
*  Project: ACE Center: Clinical Phenotype: Treatment Response Core
project ace center clinical phenotype treatment response core projects home project detail ace center clinical phenotype treatment response core this grant provides support for an nih autism center of excellence ace the university of california san diego ace treatment core txc has been established to implement an evidence based treatment for toddlers with autism participating in the ace projects a specific manualized treatment the star program has been chosen as the foundation for the treatment this curriculum incorporates evidence based behavioral methods including discrete trial teaching pivotal response training and teaching within functional routines that are of documented effectiveness this curriculum will be adapted to accommodate year old children and to include additional social goals and developmental strategies project status ongoing funder national institutes of health fiscal year funding current award period project number p mh principal investigator schreibman laura received arra funding no strat...
https://iacc.hhs.gov/apps/portfolio-analysis-web-tool/project?projectId=3829&fy=2010
*  Animal Models Get Closer to Mimicking Humans | GEN Magazine Articles | GEN
Animal Models Get Closer to Mimicking Humans. Linking Phenotypes and Modes of Action Through High-Content Screen Fingerprints. Jobs Report: Data, Business, and Regulatory Savvy Driving New Hiring. FDA Nominee Driven by "Data, Data, Data". Linking Phenotypes and Modes of Action Through High-Content Screen Fingerprints. Jobs Report: Data, Business, and Regulatory Savvy Driving New Hiring. FDA Nominee Driven by "Data, Data, Data". Linking Phenotypes and Modes of Action Through High-Content Screen Fingerprints The Use of High-Content Screening as... Inbred lab mouse strains with fixed and highly reproducible genotypes are a powerful tool for genetic manipulation. And yet, the inbred lab strains proved to be a poor system for discovery of specific genes associated with a particular trait, such as obesity or high blood pressure, comments Gary A. Churchill, Ph.D., professor and principal investigator, The Jackson Laboratory. Therefore, discovery of a genetic basis of a complex trait required a radically new genetic ...
http://genengnews.com/gen-articles/animal-models-get-closer-to-mimicking-humans/4529/?kwrd=Animal Models
*  MPD - Phenotype strain survey data listing - cardiovascularMPD - Phenotype strain survey data: cardi
at the jackson laboratory home about help mpd phenotype strain survey data listing cardiovascular mpd phenotype strain survey data cardiovascular phenotype strain survey data cardiovascular select one aorta and ventricle dimensions atherosclerosis blood pressure ecg parameters echocardiography heart rate heart weight all see also qtl projects studying cardiovascular other resources for cardiovascular investigators papers protocols ontologies if you re focusing on one or two particular mouse strains click here to begin video tutorial session explains the use of this page contact us about mpd also at jax units changelog downloads citing funding terms of use...
http://phenome.jax.org/db/q?rtn=meas/catlister&req=Ccardiovascular
*  Animal Models Get Closer to Mimicking Humans | GEN Magazine Articles | GEN
Linking Phenotypes and Modes of Action Through High-Content Screen Fingerprints. FDA Nominee Driven by "Data, Data, Data". Jobs Report: Data, Business, and Regulatory Savvy Driving New Hiring. Linking Phenotypes and Modes of Action Through High-Content Screen Fingerprints. FDA Nominee Driven by "Data, Data, Data". Market & Tech Analysis. Linking Phenotypes and Modes of Action Through High-Content Screen Fingerprints The Use of High-Content Screening as... And yet, the inbred lab strains proved to be a poor system for discovery of specific genes associated with a particular trait, such as obesity or high blood pressure, comments Gary A. Churchill, Ph.D., professor and principal investigator, The Jackson Laboratory. Therefore, discovery of a genetic basis of a complex trait required a radically new genetic strategy. While still not as diverse as humans, DO mice more accurately reflect human genetic architecture and may provide better insight into genetic mechanisms of human diseases. Linking Genotype with Pheno...
http://genengnews.com/gen-articles/animal-models-get-closer-to-mimicking-humans/4529/?kwrd=Animal Models&page=1
*  7.4 THE FINAL CHAPTER OF GENETICS
... The fundamental goal of molecular genetics is to understand, at the molecular level, how genotype is translated into phenotype. One pathway begins with a mutant or variant phenotype and follows this back to a clone of the guilty gene; this pathway will be discussed in the next Section. In a more directed approach toward this goal, it is possible to walk down a cloned chromosomal region and pick up each transcription unit one by one for further analysis of function. These antibodies can then be used as a tool to investigate the expression and localization of the protein both among cells and within cells, and to purify the native protein from the mouse. The two most powerful approaches to gene manipulation are based on targeted mutagenesis and the insertion of transgene constructs of any conceivable kind into the germline of the mouse; both of these approaches are discussed in depth in Chapter 6. The rationale for the use of both targeted mutagenesis and directed transgenesis is that by examining the pertu...
http://informatics.jax.org/silver/chapters/7-4.shtml
*  7.4 THE FINAL CHAPTER OF GENETICS
... The fundamental goal of molecular genetics is to understand, at the molecular level, how genotype is translated into phenotype. One pathway begins with a mutant or variant phenotype and follows this back to a clone of the guilty gene; this pathway will be discussed in the next Section. In a more directed approach toward this goal, it is possible to walk down a cloned chromosomal region and pick up each transcription unit one by one for further analysis of function. These antibodies can then be used as a tool to investigate the expression and localization of the protein both among cells and within cells, and to purify the native protein from the mouse. The two most powerful approaches to gene manipulation are based on targeted mutagenesis and the insertion of transgene constructs of any conceivable kind into the germline of the mouse; both of these approaches are discussed in depth in Chapter 6. The rationale for the use of both targeted mutagenesis and directed transgenesis is that by examining the pertu...
http://informatics.jax.org/silverbook/chapters/7-4.shtml
*  Spondyloenchondrodysplasia with Immune Dysregulation; SPENCDI MGI Mouse Model Detail - 607944
... Home. Genes. Phenotypes. Human Disease. Expression. Recombinases. Function. Strains / SNPs. Homology. Pathways. Tumors. About Help FAQ. Search. All Search Tools. Genes. Genes Markers Query. Batch Query. Mouse Genome Browser. More. Phenotypes. Phenotypes, Alleles Diseases Query. Mammalian Phenotype MP Browser. Human Disease OMIM Browser. More. Human Disease. Expression. Gene Expression Data Query. Gene Expression Literature Query....
http://informatics.jax.org/disease/607944
*  Phenotype mixing
... is a form of interaction between two virus particles each of which holds its own unique genetic material the two particles share coat protein s therefore each has a similar assortment of identifying surface proteins while having different genetic material in other words nongenetic interaction in which virus particles released from a cell that is infected with two different viruses have components from both the infecting agents but with a genome from one of them references category virology...
https://en.wikipedia.org/wiki/Phenotype_mixing
*  Eat Right For Your Type: The Individualist: Mutation
Most common is the transition that exchanges a purine for a purine A ↔ G or a pyrimidine for a pyrimidine, C ↔ T. Less common is a transversion, which exchanges a purine for a pyrimidine or a pyrimidine for a purine C/T ↔ A/G. Deletions of large chromosomal regions, leading to loss of the genes within those regions. By effect on function Loss-of-function mutations are the result of gene product having less or no function. Dominant negative mutations also called antimorphic mutations have an altered gene product that acts antagonistically to the wild type allele. These mutations usually result in an altered molecular function often inactive and are characterised by a dominant or semi-dominant phenotype. By effect on gene expression Hypomorphic mutations are mutations that cause reduced function of the gene product, or a negative change in expression of the gene. Neomorphic mutations cause a novel molecular function or expression of the gene product. Causes of mutation Two classes of mutations are spontaneous m...
http://drpeterjdadamo.com/wiki/wiki.pl/Rhesus_(Rh)_Blood_Group/Mutation
*  Silent mutation
When they occur within exons they either do not result in a change to the amino acid sequence of a protein a " synonymous substitution ", or result in the insertion of an alternative amino acid with similar properties to that of the original amino acid; in either case there is no significant change in phenotype. The phrase 'silent mutation' is often used interchangeably with the phrase ' synonymous mutation '; however, synonymous mutations only occur within exons, and are not always silent mutations. Synonymous mutations can affect transcription, splicing, mRNA transport, and translation, any of which could alter phenotype, rendering the synonymous mutation non-silent. Mutations that cause the altered codon to produce an amino acid with similar functionality 'e.g.' a mutation producing leucine instead of isoleucine are often classified as silent; if the properties of the amino acid are conserved, this mutation does not usually significantly affect protein function. Silent mutations and the genetic code. Silen...
https://en.wikipedia.org/wiki/Silent_mutation
*  Neutral mutation
The neutral theory of molecular evolution is an important and often controversial theory proposing that most molecular variation within and among species is essentially neutral and not acted on by selection. History Impact on evolutionary theory Types of neutral mutation Synonymous mutation of bases. Neutral amino acid substitution. This theory has become known as the neutral theory of molecular evolution. Neutral mutation and the neutral theory of molecular evolution are not separate from natural selection but add to Darwin's original thoughts. 3 A number of observations associated with neutral mutation were predicted in neutral theory including: amino acids with similar biochemical properties should be substituted more often than biochemically different amino acids; synonymous base substitutions should be observed more often than nonsynonymous substitutions; intron s should evolve at the same rate as synonymous mutations in coding exon s; and pseudogenes should also evolve at a similar rate. Synonymous muta...
https://en.wikipedia.org/wiki/Neutral_mutation
*  The list of related mutation databases
... 関連変異データベース En. Acknowledgement: JST acknowledges these databases for assisting our service. database abbreviation institutes managing database comments dbSNP National center for Biotechnology Information NCBI Single nucleotide polymorphisms, small-scale insertions/deletions, polymorphic repetitive elements, and microsatellite variation. The Human Genome Variation Database is to provide an accurate, high utility and ultimately fully comprehensive catalog of normal human gene and genome variation. An integrated resource about how variation in human genes leads to variation in our response to drugs. HGMD Cardiff University Human gene mutation database. ALFRED Yale University A resource of gene frequency data on human population. Ensembl EMBL - European Bioinformatics Institute EBI and the Wellcome Trust Sanger Institute WTSI The Ensembl project provides automated genome annotation and subsequent visualisation of the annotated genomes. JG-SNP Tokyo Metropolitan Geriatric Medical Center Number of autopsy case...
http://snp.ims.u-tokyo.ac.jp/mutation_db_list.html
*  Mutation Types | CK-12 Foundation
Mutation Types. CK-12 Foundation meta http-equiv="refresh" content="1; url=/nojavascript/". Mutation Types. Mutations can affect chromosomes leading to neutral, negative or positive changes. READ. Mutation Types. Surveys different types of mutations. Practice. Practice questions. CK-12 Content. At Grade. Advanced. Levels are CK-12's student achievement levels. At Grade Proficient Students matched to this level have demonstrated competency over challenging subject matter, including subject matter knowledge, application of such knowledge to real-world situations, and analytical skills appropriate to subject matter. Advanced Students matched to this level are ready for material that requires superior performance and mastery. Read. Study Aids. Lesson Plans. Concept Map. Real World. Concept Map. Real World. Read. Mutation Types. by CK-12. // at grade. Surveys different types of mutations. Twitter. Facebook. Email. 5 Read. Mutations Types - Advanced. by CK-12. // advanced. Describes different types of mutations. Tw...
http://ck12.org/biology/Mutation-Types/?by=all&difficulty=all
*  64 bit time t changes
... tech-userlevel archive. [ Date Index ][ Thread Index ][ Old Index ]. 64 bit time t changes. To : tech-userlevel%netbsd.org@localhost Subject : 64 bit time t changes From : christos%zoulas.com@localhost Christos Zoulas Date: Sat, 22 Mar 2008 16:06:10 -0400 EDT. Hello, I am done with the kernel portion of the 64 bit time t changes and I have versioned all the system calls affected so that we can preserve system call level compatibility and it works. I have been running an old userland with it and only netstat seems to be broken. I started working on userland and I saw that there is a very large number of things that are affected: password utmp, utmpx, lastlog, wtmp rpc stuff all time and clock functions utime sigtimedwait mq send and receive all stat stuff again fts again I can do the work, but I am beginning to wonder if this is the time to bump libc, and get rid a lot of the compat code that we've collected through the years. We can use this to sanitize size t across all the platforms and do the rest of ...
http://mail-index.netbsd.org/tech-userlevel/2008/03/22/msg000231.html
*  Mutations - Psychology Wiki
... Edit this Page. Edit. Classic editor. Mutations are changes in the DNA sequence of a cell's genome and are caused by radiation, viruses, transposons and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication. Due to the damaging effects that mutations can have on cells, organisms have evolved mechanisms such as DNA repair to remove mutations. Loss-of-function mutations are the result of gene product having less or no function. In applied genetics it is usual to speak of mutations as either harmful or beneficial. In theoretical population genetics, it is more usual to speak of such mutations as deleterious or advantageous. A nearly neutral mutation is a mutation that may be slightly deleterious or advantageous, although most nearly neutral mutations are slightly deleterious. Missense mutations or nonsynonymous mutations are types of point mutations where a single nucleotide is changed to cause substitution of a different amino acid. A neutral mutation is a mutation that occurs...
http://psychology.wikia.com/wiki/Mutation
*  Welding problems and defects – causes and remedies - PDF Drive
... PDF Drive is a search engine designed to find PDF files. Gay & Lesbian. Welding problems and defects – causes and remedies. Similar PDF files. Pages: 3 Size: 1.12 MB Year: 2009 Welding defects, causes and correction. Pages: 12 Size: 937 KB Year: 2011 Causes and Cures of Common Welding defects. Pages: 37 Size: 1000 KB Year: 2010 Practical examples of welding problems Causes and solutions. Pages: 4 Size: 543 KB Year: 2013 Common Weld Defects - Causes and Cures - Qualimet. Common Weld Defects – Causes and Cures. Pages: 6 Size: 111 KB Year: 2004 Common Incubation Problems : Causes and Remedies - ANRCatalog. Pages: 192 Size: 5.37 MB Year: 2001 THE CALIFORNIA ENERGY CRISIS: IMPACTS, CAUSES, AND REMEDIES. Pages: 192 Size: 5.37 MB Year: 2001 THE CALIFORNIA ENERGY CRISIS: IMPACTS, CAUSES, AND REMEDIES. Pages: 4 Size: 32 KB Year: 2008 Tire wear, causes, how to remedy the potential problems. Tire Safety Part 3 of 4 Tire wear, causes, how to remedy the potential problems, rotation, and at what point does uneven wear...
http://pdfdrive.net/welding-problems-and-defects-causes-and-remedies-e3730978.html
*  genetics - How can synonymous mutations lead to cancerous or tumorous phenotypes? - Biology Stack Ex
genetics - How can synonymous mutations lead to cancerous or tumorous phenotypes. - Biology Stack Exchange. current community. chat blog. Biology. . Biology Meta. your communities. Sign up or log in to customize your list. more stack exchange communities. Stack Exchange. Inbox. Reputation and Badges. sign up log in tour. help. Tour Start here for a quick overview of the site. Help Center Detailed answers to any questions you might have. Meta Discuss the workings and policies of this site. Biology Questions. Tags. Users. Badges. Unanswered. Ask Question. Sign up. Biology Stack Exchange is a question and answer site for biology researchers, academics, and students. It's 100% free, no registration required. How can synonymous mutations lead to cancerous or tumorous phenotypes. up vote 0 down vote favorite. After analyzing DNA sequences of an oncogene from many human cancer patients, you found that synonymous substitutions occur in a specific codon of this oncogene. Assuming that these synonymous substitution...
http://biology.stackexchange.com/questions/14290/how-can-synonymous-mutations-lead-to-cancerous-or-tumorous-phenotypes
*  Phys.org - gene mutation(... continued page 6)
Phys.org - gene mutation ... 1 week. 1 week. 1 week. genes · breast cancer · mutations · ovarian cancer · cancer cells. Nov 21, 2012 in Cell & Microbiology. Sep 28, 2012 in Plants & Animals. Sep 19, 2012 in Biotechnology. Sep 13, 2012 in Biochemistry. Aug 16, 2012 in Cell & Microbiology. Genetic analyses reveal novel mutations as causes of startle disease. Aug 07, 2012 in Biochemistry. Phys.org -- Scientists do not fully understand how nature uses proteins to develop new materials and minerals, but learning more about the natural processes could lead to bioengineering methods such as the biological synthesis ... Jun 08, 2012 in Biochemistry. In biology, mutations are changes to the nucleotide sequence of the genetic material of an organism. In multicellular organisms with dedicated reproductive cells, mutations can be subdivided into germ line mutations, which can be passed on to descendants through the reproductive cells, and somatic mutations, which involve cells outside the dedicated reproductive group and...
http://phys.org/tags/gene mutation/page6.html
*  New mutations driving deadly skin cancers discovered | Zee News
New mutations driving deadly skin cancers discovered. Zee News. INDIA. SPORTS. other sports. blogs. exclusive. Videos. Bookworm. TV. Pics. HEALTH. EXCLUSIVE. PICS. Health News Diseases Wellness Healthy Eating Fitness Exclusive Ayurveda Low Cal Recipes. News. Health. New mutations driving deadly skin cancers discovered. Washington: Scientists have discovered two new mutations that collectively occur in 71 per cent of malignant melanoma tumours, the most deadly type of skin cancer. Researchers from Dana-Farber Cancer Institute and the Broad Institute in US said the highly "recurrent" mutations - occurring in the tumours of many people - may be the most common mutations in melanoma cells found to date. Researchers said these cancer-associated mutations are the first to be discovered in the vast regions of DNA in cancer cells that do not contain genetic instructions for making proteins. The mutations are located in non-protein-coding DNA that regulates the activity of genes. The newly discovered mutations affect ...
http://zeenews.india.com/news/health/diseases-and-conditions/new-mutations-driving-deadly-skin-cancers-discovered_20435.html
*  Genetic mutation - Conservapedia
... In biology , mutations are changes to the base pair sequence of genetic material either DNA or RNA. Mutations can be caused by copying errors in the genetic material during cell division and by exposure to ultraviolet or ionizing radiation, chemical mutagens , or viruses , or can occur deliberately under cellular control during processes such as meiosis or hypermutation. Small-scale mutations, such as affecting a small gene is one or a few nucleotides, including: Point mutations , often caused by chemicals or malfunction of DNA replication, exchange a single nucleotide for another. Most common is the transition that exchanges a purine for a purine A ↔ G or a pyrimidine for a pyrimidine, C ↔ T. Less common is a transversion , which exchanges a purine for a pyrimidine or a pyrimidine for a purine C/T ↔ A/G. The abnormal FIG-ROS fusion protein has constitutively active kinase activity that causes oncogenic transformation a transformation from normal cells to cancer cells. Loss-of-function mutations are the ...
http://conservapedia.com/index.php?title=Genetic_mutation&redirect=no
*  COSMIC: Catalogue of Somatic Mutations in Cancer - Home Page
... COSMIC. Cell Lines Project. Whole Genomes. Data Download. Data Download. Help. Help. R Resources Key COSMIC resources Cell Lines Project. COSMIC Whole Genomes. cancer gene census. C Expert Curation High quality curation by expert postdoctoral scientists Cancer Gene Census. Curated Genes. Gene Fusions. T Tools Additional tools to explore COSMIC Cancer Browser. Genome Browser. D Data Further details on using COSMIC's content Downloads. Datasheet v74. Summary: Coding Mutations Coding mutation consequence most severe, as predicted by the VEP Genome Browser The COSMIC Genome Browser displays all mutation information across all cancers. In v74 we highlight functionally significant non-coding variants blue. Genome browsing by disease is also available via our Cancer Browser. Coding Mutations 3480051. Fusions 16648. Whole Genomes 22690. For more details, please see the datasheet. Genes Newly Curated in COSMIC v74 Full literature curation across POLE,AXIN2 and KDM6A are included in this release:. KMT2A MLL - 52 n...
http://cancer.sanger.ac.uk/cosmic
*  Medical Xpress - gene mutation
... News tagged with gene mutation. 1 week. 1 week. 1 week. Related topics: genes · breast cancer · mutations · ovarian cancer · cancer cells. Autism spectrum disorders. Genetics. Cancer. Mutations in the BRCA 1 and BRCA 2 genes are very likely to lead to a form of cancer in people who have them. Sep 28, 2015 65 0. Cancer. In a discovery that could lead to more targeted and effective treatments for certain lung and prostate cancers, researchers at the University of Virginia School of Medicine have identified two new cancer-causing gene mutations ... Cancer. Cancer. A rare, deadly form of skin cancer known as desmoplasmic melanoma DM may possess the highest burden of gene mutations of any cancer, suggesting that immunotherapy may be a promising approach for treatment, according to ... Cancer. The startling discovery that hundreds of thousands of Brazilians have a genetic mutation that undermines their ability to resist cancer is helping labs worldwide in their search for new treatments for the disease. Sep 15...
http://medicalxpress.com/tags/gene mutation/sort/rank/1m/
*  Startling plant discovery presents problems for evolution: mutation repair - creation.com
... Creation Magazine. Journal of Creation. Store Books. Creation Magazine Archive Do rabbits chew their cud. COMMENT View Cart items. View Cart View Item. US $25.00 View Item. View Cart View Item. US $10.00 View Item. Second, a paper in Nature describes a plant that can fix its own mutations, apparently without using DNA as a template. These so-called beneficial mutations will be selected for in future generations. While DNA repair mechanisms could be considered irreducibly complex, it can still be argued that natural selection would favor an organism with better DNA repair. This means that, however unlikely, evolutionists can still argue that natural selection could provide for DNA repair to evolve. A mutation repair mechanism can only provide a selective advantage to those individuals that have the mutations and get them fixed. These authors suggested that stress may serve to induce the DNA mutation repair. Since mutations are the raw material of evolution, mechanisms which reduce the number of mutations ...
http://creation.com/startling-plant-discovery-presents-problems-for-evolution-mutation-repair
*  GEN News Highlights Related To | GEN
Tissue-Specific Molecular Biomarker Signatures of Type 2 Diabetes. FDA Nominee Driven by "Data, Data, Data". Jobs Report: Data, Business, and Regulatory Savvy Driving New Hiring. More GEN Exclusives ». Tissue-Specific Molecular Biomarker Signatures of Type 2 Diabetes. FDA Nominee Driven by "Data, Data, Data". Jobs Report: Data, Business, and Regulatory Savvy Driving New Hiring. More GEN Exclusives ». GEN Exclusives More. Linking Phenotypes and Modes of Action Through High-Content Screen Fingerprints The Use of High-Content Screening as... GEN News Highlights Related to Single Gene Mutation May Cause Type 1 Diabetes Growing Surrogate Organs in Lymph Nodes Phase III Results Promising for Diabetes, Gaucher, Atrial Fibrillation Drugs ViaCyte Awarded Funds for Implantable Diabetes Cell Therapy New Diabetes and Angina Link Demonstrated Myriad, Sanofi Forge Potentially $10M Diabetes Collab NGM Inks Diabetes Deal with Janssen Boy or Girl. Beyond X and Y Setback, and Success, for BI-Lilly Diabetes Alliance Novo Nordis...
http://genengnews.com/more/related/gen-news-highlights/4/30567/?page=6
*  AD&FTD Mutation Database
AD FTD Mutation Database. Alzheimer Disease Frontotemporal Dementia Mutation Database Home. AD FTDMDB. Links. About. Lookup Mutations. By Gene. By Phenotype. By Publication. Latest Updates. Statistics. Per Gene. Per Exon. Per Domain. Submit Mutations. PSEN1 Ser365Tyr Mutation Details Table Legend. Gene PSEN1 Name g.63825C>A relative to Met1 in AF109907.1 g.80437C>A relative to nt1 in NG 007386.2 Alias Ser365Tyr Description Point mutation in coding region predicting an amino acid substitution Codon Change From TCC to TAC dbSNP ID rs63750941 Details Genomic. cDNA. Protein. Observed. c.1094C>A. Predicted g.63825C>A. p.S365Y Region EX10 CDS HL-VI b. Pathogenecity CADD v1.2 score: phred = 24.5 ; raw = 4.113688 Guerreiro classification: Notes Observed in 1 patient who also carries the PSEN1 Met146Val mutation. Phenotype Alzheimer Disease Pathogenic nature unclear. Frequency 1 Family. Function No Functional data available. Citations Rogaeva EA, Neurology 57: 621-625, 2001. Citation Details. Added: September 11, 2001...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=121
*  AD&FTD Mutation Database
ad ftd mutation database alzheimer disease frontotemporal dementia mutation database home ad ftdmdb links about lookup mutations by gene by phenotype by publication latest updates statistics per gene per exon per domain submit mutations psen pro ser mutation details table legend gene psen name g c t relative to met in af g c t relative to nt in ng alias pro ser description point mutation in coding region predicting an amino acid substitution codon change from cca to tca dbsnp id rs details genomic cdna protein observed g c t c c t predicted p p s region ex cds hl vi a pathogenecity cadd v score phred raw guerreiro classification phenotype alzheimer disease mean of mean onset ages y frequency family function summary table showing mean of n reports a a cos x function details citations clark rf nature genetics hutton m neuroreport palmer ms human mutation citation details added december last modified april id note when using ad ftdmdb please consult the how to cite page for information on how to cite ad ftdmdb i...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=35
*  AD&FTD Mutation Database
ad ftd mutation database alzheimer disease frontotemporal dementia mutation database home ad ftdmdb links about lookup mutations by gene by phenotype by publication latest updates statistics per gene per exon per domain submit mutations psen val phe mutation details table legend gene psen name g g t relative to met in af g g t relative to nt in ng alias val phe description point mutation in coding region predicting an amino acid substitution codon change from gtt to ttt dbsnp id rs details genomic cdna protein observed g g t predicted c g t p v f region ex cds tm vi pathogenecity cadd v score phred raw guerreiro classification phenotype alzheimer disease spastic paraparesis mean of mean onset ages y mean of mean ages at death y frequency families function no functional data available citations farlow mr neurobiology of aging supp s farlow mr alzheimer s disease advances in etiology pathogenesis and therapeutics chapter rogaeva ea neurology miravalle l neurobiology of aging s s citation details added july last...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=92
*  AD&FTD Mutation Database
ad ftd mutation database alzheimer disease frontotemporal dementia mutation database home ad ftdmdb links about lookup mutations by gene by phenotype by publication latest updates statistics per gene per exon per domain submit mutations psen met ile mutation details table legend gene psen name g g a relative to met in af g g a relative to nt in ng alias met ile description point mutation in coding region predicting an amino acid substitution codon change from atg to ata dbsnp id rs details genomic cdna protein observed g g a predicted c g a p m i region ex cds tm ii pathogenecity cadd v score phred raw guerreiro classification phenotype alzheimer disease mean of mean onset ages y mean of mean ages at death y frequency families function no functional data available citations cervenakova l american journal of human genetics supp a jorgensen p clinical genetics janssen jc neurobiology of aging s s janssen jc neurology lindquist s clinical genetics citation details added december last modified august id note when...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=87
*  AD&FTD Mutation Database
ad ftd mutation database alzheimer disease frontotemporal dementia mutation database home ad ftdmdb links about lookup mutations by gene by phenotype by publication latest updates statistics per gene per exon per domain submit mutations psen glu lys mutation details table legend gene psen name g g a relative to met in af g g a relative to nt in ng alias glu lys description point mutation in coding region predicting an amino acid substitution codon change from gaa to aaa dbsnp id rs details genomic cdna protein observed g g a predicted c g a p e k region ex cds hl i pathogenecity cadd v score phred raw guerreiro classification definite pathogenic phenotype alzheimer disease mean of mean onset ages y frequency families function summary table showing mean of n reports a a cos x function details citations hutton m neuroreport lindquist s clinical genetics citation details added december last modified august id note when using ad ftdmdb please consult the how to cite page for information on how to cite ad ftdmdb i...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=11
*  AD&FTD Mutation Database
AD FTD Mutation Database. Alzheimer Disease Frontotemporal Dementia Mutation Database Home. AD FTDMDB. Links. About. Lookup Mutations. By Gene. By Phenotype. By Publication. Latest Updates. Statistics. Per Gene. Per Exon. Per Domain. Submit Mutations. PSEN1 Ala136Gly Mutation Details Table Legend. Gene PSEN1 Name g.25610C>G relative to Met1 in AF109907.1 g.42164C>G relative to nt1 in NG 007386.2 Alias Ala136Gly Description Point mutation in coding region predicting an amino acid substitution Codon Change From GCT to GGT dbSNP ID rs41345849 Details Genomic. cDNA. Protein. Observed g.25610C>G. Predicted. c.407C>G p.A136G Region EX5 CDS TM-II. Pathogenecity CADD v1.2 score: phred = 24.3 ; raw = 4.01346 Guerreiro classification:. Phenotype Alzheimer Disease. Frequency 1 Family. Function No Functional data available. Citations Fang BY, Zhonghua Yi Xue Za Zhi 87: 336-340, 2007. Citation Details. Added: December 9, 2008 Last Modified: May 12, 2009 ID: 463 Note. When using AD FTDMDB, please consult the How To Cite pa...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=463
*  AD&FTD Mutation Database
AD FTD Mutation Database. Alzheimer Disease Frontotemporal Dementia Mutation Database. Home. AD FTDMDB. Links. About. Lookup Mutations. By Gene. By Phenotype. By Publication. Latest Updates. Statistics. Per Gene. Per Exon. Per Domain. Submit Mutations. Mutations in PSEN1. Mutation. Exon / Domain. Citations. 1 PSEN1 Asn32 g.22781T>C. Pathogenic nature unclear. EX4 N-Term. Scacchi R, 2007. 2 PSEN1 Arg35Gln g.22789G>A. Not pathogenic. EX4 N-Term. Rogaeva EA, 2001 Raux G, 2005 Guerreiro RJ, 2010. 3 PSEN1 Ala79Val g.22921C>T. EX4 N-Term. Cruts M, 1998 Finckh U, 2000 Rogaeva EA, 2001 Miravalle L, 2002 Kauwe JS, 2007. 4 PSEN1 Val82Leu g.22929G>C. EX4 TM-I. Campion D, 1995 Campion D, 1999. 5 PSEN1 I83/M84 g.22932 22937delATCATG. EX4 TM-I. Houlden H, 2000 Steiner H, 2001. 6 PSEN1 Leu85Pro g.22939T>C. EX4 TM-I. Ataka S, 2004. 7 PSEN1 Val89Leu g.22950G>T. EX4 TM-I. Queralt R, 2002 Lleo A, 2002. 8 PSEN1 Cys92Ser g.22960G>C. EX4 TM-I. Sorbi S, 2002 Tedde A, 2003. 9 PSEN1 Val94Met g.22965G>A. EX4 TM-I. Jacquier M, 2000 Ara...
http://molgen.ua.ac.be/ADMutations/default.cfm?MT=1&ML=1&Page=MutByQuery&Query=tblContexts.GeneSymbol In ('PSEN1')&Selection=Gene In (PSEN1
*  AD&FTD Mutation Database
AD FTD Mutation Database. Alzheimer Disease Frontotemporal Dementia Mutation Database Home. AD FTDMDB. Links. About. Lookup Mutations. By Gene. By Phenotype. By Publication. Latest Updates. Statistics. Per Gene. Per Exon. Per Domain. Submit Mutations. PSEN1 Asn135Ser Mutation Details Table Legend. Gene PSEN1 Name g.25607A>G relative to Met1 in AF109907.1 g.42161A>G relative to nt1 in NG 007386.2 Alias Asn135Ser Description Point mutation in coding region predicting an amino acid substitution Codon Change From AAT to AGT dbSNP ID rs63751278 Details Genomic. cDNA. Protein. Observed g.25607A>G. Predicted. c.404A>G p.N135S Region EX5 CDS TM-II. Pathogenecity CADD v1.2 score: phred = 25.6 ; raw = 4.642778 Guerreiro classification:. Phenotype Alzheimer Disease / Epilepsy / Spastic Paraparesis Mean of Mean Onset Ages: 33.4y Mean of Mean Ages at Death: 38.8y. Frequency 2 Families. Function No Functional data available. Citations Finckh U, Neurogenetics 6: 85-89, 2005 Rudzinski LA, Alzheimer disease and associated dis...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=242
*  AD&FTD Mutation Database
AD FTD Mutation Database. Alzheimer Disease Frontotemporal Dementia Mutation Database Home. AD FTDMDB. Links. About. Lookup Mutations. By Gene. By Phenotype. By Publication. Latest Updates. Statistics. Per Gene. Per Exon. Per Domain. Submit Mutations. PSEN2 Ser175Cys Mutation Details Table Legend. Gene PSEN2 Name g.6210C>G relative to Met1 in U50871.1 g.22545C>G relative to nt1 in NG 007381.1 Alias Ser175Cys Description Point mutation in coding region predicting an amino acid substitution Codon Change From TCT to TGT Details Genomic. cDNA. Protein. Observed g.6210C>G. Predicted. c.524C>G p.S175C Region EX6 CDS TM-III. Pathogenecity CADD v1.2 score: phred = 31 ; raw = 5.624295 Guerreiro classification:. Phenotype Alzheimer Disease Mean of Mean Onset Ages: 60.5y Mean of Mean Ages at Death: 70.0y. Frequency 1 Family. Function No Functional data available. Citations Piscopo P, Alzheimer's & Dementia 4 Supp 2: T595, 2008 Piscopo P, Personal Communication :, 2008 Piscopo P, Journal of Alzheimer's Disease 20: 43-47,...
http://molgen.ua.ac.be/FTDMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=457
*  AD&FTD Mutation Database
ad ftd mutation database alzheimer disease frontotemporal dementia mutation database home ad ftdmdb links about lookup mutations by gene by phenotype by publication latest updates statistics per gene per exon per domain submit mutations psen leu pro mutation details table legend gene psen name g t c relative to met in af g t c relative to nt in ng alias leu pro description point mutation in coding region predicting an amino acid substitution codon change from ctc to ccc details genomic cdna protein observed g t c predicted c t c p l p region ex cds hl vi ma pathogenecity cadd v score phred raw guerreiro classification phenotype alzheimer disease caa mean of mean onset ages y mean of mean ages at death y frequency family function no functional data available citations sánchez valle r european journal of neurology citation details added december id note when using ad ftdmdb please consult the how to cite page for information on how to cite ad ftdmdb in your publication top back ad ftdmdb home...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=400
*  AD&FTD Mutation Database
AD FTD Mutation Database. Alzheimer Disease Frontotemporal Dementia Mutation Database Home. AD FTDMDB. Links. About. Lookup Mutations. By Gene. By Phenotype. By Publication. Latest Updates. Statistics. Per Gene. Per Exon. Per Domain. Submit Mutations. PSEN1 Leu282Val Mutation Details Table Legend. Gene PSEN1 Name g.50029C>G relative to Met1 in AF109907.1 g.66635C>G relative to nt1 in NG 007386.2 Alias Leu282Val Description Point mutation in coding region predicting an amino acid substitution Codon Change From CTT to GTT dbSNP ID rs63749937 Details Genomic. cDNA. Protein. Observed g.50029C>G. Predicted. c.844C>G p.L282V Region EX8 CDS HL-VI MA. Pathogenecity CADD v1.2 score: phred = 26.1 ; raw = 4.802401 Guerreiro classification:. Phenotype Alzheimer Disease / CAA Mean of Mean Onset Ages: 44.3y Mean of Mean Ages at Death: 53.5y. Frequency 1 Family. Function Summary table showing mean of n reports A 40. A 42. A 42 /A. A 42 /A 40. HEK293. 2.2x 1 = 1 2.3x 1 2.6x 3 brain. 1.6x 1 1.3x 1 Function Details. Citations ...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=129
*  Diverse somatic mutation patterns and pathway alterations in human cancers (PDF Download Available)
Nature. DOI: 10.1038/nature09208 Source: PubMed. Statistical analysis identified 77 significantly mutated genes including protein kinases, G-protein-coupled receptors such as GRM8, BAI3, AGTRL1 also called APLNR and LPHN3, and other druggable targets. Here we report the identification of 2,576 somatic mutations across senting 1,507 coding genes from 441 tumours comprising breast, lung, ovarian and prostate cancer types and subtypes. BAI1 and BAI2 were also mutated in breast, lung and ovarian cancers at a lower frequency Fig. In particular, GNAS—the G-protein a subunit, known to be associated with mul- tiple human diseases, including some cancers3,19—besides being mutated at R201, was also found to be amplified in 12% 6 of 49 ofovarian cancers, 20% 10of50 ofHER21breast cancers and13% 7 of 53 of HR1breast cancers Fig. Whereas the presence of homozygous MAP2K4 deletions G49 R T118 T14 I869 A1024 G1404 C189C819 R1050R1124 C1148 M1258 N1475 D1449 P1510 Y1479 F1378T420 A442 W461 G543G586 I M206 V W215 C I574 V I575...
http://researchgate.net/publication/45406823_Diverse_somatic_mutation_patterns_and_pathway_alterations_in_human_cancers
*  AD&FTD Mutation Database
ad ftd mutation database alzheimer disease frontotemporal dementia mutation database home ad ftdmdb links about lookup mutations by gene by phenotype by publication latest updates statistics per gene per exon per domain submit mutations psen met val mutation details table legend gene psen name g a g relative to met in af g a g relative to nt in ng alias met val description point mutation in coding region predicting an amino acid substitution codon change from atg to gtg dbsnp id rs details genomic cdna protein observed g a g c a g predicted p m v region ex cds tm ii pathogenecity cadd v score phred raw guerreiro classification definite pathogenic phenotype alzheimer disease mean of mean onset ages y frequency families function summary table showing mean of n reports a a cos x function details citations clark rf nature genetics cervenakova l american journal of human genetics supp a rogaeva ea neurology citation details added december last modified april id note when using ad ftdmdb please consult the how to c...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=19
*  AD&FTD Mutation Database
ad ftd mutation database alzheimer disease frontotemporal dementia mutation database home ad ftdmdb links about lookup mutations by gene by phenotype by publication latest updates statistics per gene per exon per domain submit mutations psen tyr cys mutation details table legend gene psen name g a g relative to met in af g a g relative to nt in ng alias tyr cys description point mutation in coding region predicting an amino acid substitution codon change from tat to tgt dbsnp id rs details genomic cdna protein observed g a g predicted c a g p y c region ex cds tm ii pathogenecity cadd v score phred raw guerreiro classification phenotype alzheimer disease mean of mean onset ages y frequency family function no functional data available citations janssen jc neurobiology of aging s s janssen jc neurology citation details added august last modified march id note when using ad ftdmdb please consult the how to cite page for information on how to cite ad ftdmdb in your publication top back ad ftdmdb home...
http://molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=143
*  AD&FTD Mutation Database
ad ftd mutation database alzheimer disease frontotemporal dementia mutation database home ad ftdmdb links about lookup mutations by gene by phenotype by publication latest updates statistics per gene per exon per domain submit mutations app thr ala iranian app mutation details table legend gene app name g a g relative to met in d g a g relative to nt in ng alias thr ala iranian app description point mutation in coding region predicting an amino acid substitution codon change from aca to gca dbsnp id rs details genomic cdna protein observed g a g predicted c a g p t a region ex cds tm i pathogenecity cadd v score phred raw guerreiro classification phenotype alzheimer disease epilepsy mean of mean onset ages y mean of mean ages at death y frequency families function no functional data available citations pasalar p neurology zekanowski c experimental neurology lindquist sg journal of the neurological sciences lindquist s clinical genetics citation details added june last modified august id note when using ad ftd...
http://molgen.vib-ua.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=133
*  AD&FTD Mutation Database
AD FTD Mutation Database. Alzheimer Disease Frontotemporal Dementia Mutation Database. Home. AD FTDMDB. Links. About. Lookup Mutations. By Gene. By Phenotype. By Publication. Latest Updates. Statistics. Per Gene. Per Exon. Per Domain. Submit Mutations. Mutations in PSEN2. Mutation. Exon / Domain. Citations. 1 PSEN2 Arg29His g.86G>A. Not pathogenic. EX3 N-Term. Guerreiro RJ, 2010. 2 PSEN2 Gly34Ser g.100G>A. Pathogenic nature unclear. EX3 N-Term. Sleegers K, 2004. 3 PSEN2 Arg62Cys g.1838C>T. Pathogenic nature unclear. EX4 N-Term. Sleegers K, 2004 Ertekin-Taner N, 2008 Brouwers N, 2008. 4 PSEN2 Arg62His g.1839G>A. Pathogenic nature unclear. EX4 N-Term. Cruts M, 1998 Sleegers K, 2004 Ertekin-Taner N, 2008 Gallo M, 2009 Guerreiro RJ, 2010 Dobricic V, 2012. 5 PSEN2 Pro69Ala g.1849C>G. Pathogenic nature unclear. EX4 N-Term. Dobricic V, 2012. 6 PSEN2 Arg71Trp g.1855C>T. Pathogenic nature unclear. EX4 N-Term. Sleegers K, 2004 Brouwers N, 2008 Guerreiro RJ, 2010. 7 PSEN2 Ala85Val g.1908C>T. Ex4 N-Term. Piscopo P, 2005 ...
http://molgen.ua.ac.be/ADmutations/Default.cfm?MT=1&ML=1&Page=MutByQuery&Query=tblContexts.ID=2&Selection=Gene = PSEN2
*  Category:SWL/genetic defect results in disease
category swl genetic defect results in disease category swl genetic defect results in disease category swl definition this category describes the collection of genes with defects caused by mutations known to cause disease for example defects in genes like kv caused by mutations can have the consequence of producing diseases like episodic ataxia external formal definitions...
https://en.wikipedia.org/wiki/Category:SWL/genetic_defect_results_in_disease
*  Biology-Online • View topic - The Implausible Engines of Evolution
41 posts. -facts, observed events, plausible explanations, and solid evidence. Death Adder Posts: 99 Joined: Wed Oct 05, 2011 2:13 am. The probability of a mutation being positive is also extremely low and very close to impossible, and has not been shown or observed to increase at the passage of time. Also, the probability of positive mutations does not increase the more mutations occur in a population. However, I would like to know where it has been observed that mutations are dominant my thing with evolution is that evolution has not been observed in the environment or replicated in the environment- I will post on Life in a Tube in the near future. 3 Since when has a mutation in one species been observed, which is not unlikely to occur, and then even more unlikely to be positive. The probability of a positive mutation does not increase the more mutations occur in a population, and it does not increase with time. Also, the probability of positive mutations does not increase the more mutations occur in a popu...
http://biology-online.org/biology-forum/about22857.html?p=135104&hilit=Genes
*  Biology-Online • View topic - The Implausible Engines of Evolution
41 posts. -facts, observed events, plausible explanations, and solid evidence. Death Adder Posts: 99 Joined: Wed Oct 05, 2011 2:13 am. The probability of a mutation being positive is also extremely low and very close to impossible, and has not been shown or observed to increase at the passage of time. Also, the probability of positive mutations does not increase the more mutations occur in a population. However, I would like to know where it has been observed that mutations are dominant my thing with evolution is that evolution has not been observed in the environment or replicated in the environment- I will post on Life in a Tube in the near future. 3 Since when has a mutation in one species been observed, which is not unlikely to occur, and then even more unlikely to be positive. The probability of a positive mutation does not increase the more mutations occur in a population, and it does not increase with time. Also, the probability of positive mutations does not increase the more mutations occur in a popu...
http://biology-online.org/biology-forum/about22857.html?p=135118&hilit=dehydroascorbic acid
*  temp sensitive mutant proteins
... hinayana bawagan bawagan at umdnj edu sat may est previous message trans factor program next message fluorescent proteins bionet molbio proteins fluorescent is ready messages sorted by i am not a protein person but my research involves the use of temperature sensitive mutant alleles of an essential yeast gene i would like to read up on the principles underlying the phenotype of temperature sensitiveness of mutant proteins so i would like to solicit articles on this subject thank you very much previous message trans factor program next message fluorescent proteins bionet molbio proteins fluorescent is ready messages sorted by more information about the proteins mailing list...
http://bio.net/bionet/mm/proteins/1995-May/002707.html
*  Newest 'mutations' Questions - Biology Stack Exchange
Newest 'mutations' Questions - Biology Stack Exchange. Help Center Detailed answers to any questions you might have. Biology Questions. Tagged Questions info newest frequent votes active unanswered. 0 votes. 0 answers. 23 views. genetics human-genetics mutations human-genome asked Oct 2 at 19:14. 1 answer. 38 views. genetics pathology mutations population-genetics hardy-weinberg asked Sep 17 at 20:53. 3 0 votes. 1 answer. 29 views. 2 votes. 0 answers. 26 views. cell-biology mutations stress asked Sep 1 at 23:47. 7 2 votes. 0 answers. 25 views. molecular-biology cell-biology microbiology mutations asked Aug 25 at 22:05. 0 answers. 25 views. genetics dna mutations asked Aug 25 at 18:45. 1 2 votes. 1 answer. 44 views. 5 0 votes. 1 answer. 52 views. evolution genetics molecular-genetics mutations recombination asked Aug 17 at 1:57. Remi.b 16.6k. 8 votes. 2 answers. 122 views. evolution reproduction natural-selection mutations asked Aug 5 at 18:18. genetics cell-biology homework mutations yeast asked Jun 2...
http://biology.stackexchange.com/questions/tagged/mutations
*  genetics - How do mutations come to be shared by all cells? - Biology Stack Exchange
- Biology Stack Exchange. Biology Meta. more stack exchange communities. Stack Exchange. Help Center Detailed answers to any questions you might have. Biology Questions. Biology Stack Exchange is a question and answer site for biology researchers, academics, and students. the other cells in our body would not have the same mutations. genetics dna share. asked Apr 29 '13 at 2:16. This usually happens when the mutations occur at an early stage of development, such that a precursor cell with the mutation gives rise to all other cells in the body. So we have lots of type 1 and few type 2. When type 2 divide they make one type 1 cell and one type 2 cell, so type 2 cells never run out. If smoke causes a mutation in type 1 cells generally they're okay because they'll die before enough mutations occur. Now if it occurs in Type 2 cells every subsequent type 1 or type 2 cell that cell makes is mutated. The last thing you mentioned are mutations that occur to eggs and sperm. One cell makes sperm and a sperm maker cell. ...
http://biology.stackexchange.com/questions/8127/how-do-mutations-come-to-be-shared-by-all-cells?answertab=active
*  Startling plant discovery presents problems for evolution - creation.com
Creation Magazine. Journal of Creation. Store Books. Creation Magazine Archive Do rabbits chew their cud. COMMENT View Cart items. Article from: Journal of Creation 19 2 :3 4 August 2005 Browse this issue Subscribe to Journal of Creation. View Cart View Item. US $25.00 View Item. View Cart View Item. US $10.00 View Item. First published: Journal of Creation 19 2 :3 4 August 2005 Browse this issue Subscribe to Journal of Creation. It describes a plant that can fix its own mutations, apparently without using DNA as a template. The plant Arabidopsis thaliana can fix its own mutations without using DNA as a template. These so-called beneficial mutations will be selected for in future generations. This means that, however unlikely, evolutionists can still argue that natural selection could provide for DNA repair to evolve. A mutation repair mechanism can only provide a selective advantage to those individuals that have the mutations and get them fixed. Since mutations are the raw material of evolution, mechanisms ...
http://creation.com/startling-plant-discovery-presents-problems-for-evolution
*  Hundreds of genetic mutations found in healthy blood of a supercentenarian
... April 23, 2014 Hundreds of genetic mutations found in healthy blood of a supercentenarian April 23, 2014. In a study published online in Genome Research, researchers detected over 400 mutations in healthy blood cells of a 115-year-old woman, suggesting that lesions at these sites are largely harmless over the course of a lifetime. Hundreds of mutations have been found in patients with blood cancers such as acute myeloid leukemia AML, but it is unclear whether healthy white blood cells also harbor mutations. In this new study, the authors used whole genome sequencing of white blood cells from a supercentenarian woman to determine if, over a long lifetime, mutations accumulate in healthy white blood cells. The white blood cell telomeres were extremely short. Medical Xpress on facebook. Medical Xpress —An international team of researchers working out of the University of Toronto has found that one type of rare leukemia appears to get its start in stem cells. Cancer metabolism drug AG-221 shows clinical acti...
http://medicalxpress.com/news/2014-04-hundreds-genetic-mutations-healthy-blood.html
*  Mutant protein
... a mutant protein is the protein product encoded by a gene with mutation mutated protein can have single amino acid change minor but still in many cases significant change leading to disease or wide range amino acid changes by e g truncation of c terminus after introducing premature stop codon see also missense mutation nonsense mutation point mutation single nucleotide polymorphism references category articles created via the article wizard category proteins category genetics category mutation...
https://en.wikipedia.org/wiki/Mutant_protein
*  .. Return to Strain Description
CGSC Strain#: 4273 Strain Designation: JC1552      Source of Strain: A.J. Clark Sex: F- Chromosomal Markers: leuB6 Am, fhuA2::IS2, lacY1, glnX44 AS, gal-6, -, trp-31, hisG1, argG6, rpsL104, malT1 R, xyl-7, mtlA2, metB1 Strain Comments:. leuB6 Am -- Suppressed by serU suppressor supH glnX44 AS -- Mutation is a C to T transition at nucleotide 34 3rd position of the anticodon hisG1 -- This mutation has been reported as either a frameshift or a 36 nt deletion fhuA2::IS2 was formerly called fhuA2 glnX44 AS was formerly called supE44 glnX44 AS was formerly called su + II. glnX44 AS was formerly called glnV44 xyl-7 was formerly called xylA7 = strep-resistant ::IS2 = Insertion of IS2 Am = amber UAG mutation AS = amber UAG suppressor LamR = Lambda-resistant References: Low, K.B. 1973. Rapid mapping of conditional and auxotrophic mutants of Escherichia coli K-12. J.Bacteriol. 113:798-812. Return to Strain Description....
http://cgsc.biology.yale.edu/StrainRpt.php?ID=11445
*  .. Return to Strain Description
CGSC Strain#: 5222 Strain Designation: N23-53      Source of Strain: H. Ogawa Sex: F- Chromosomal Markers: thr-24, galT23, -, trp-56, recA41, IN rrnD-rrnE 1, rpsL178 strR, phe-4, tyr-7 Strain Comments: The inversion comes from strain W3110, an ancestor of N23-53. galT23 -- : This is the standard gal 6 of Morse & Lederberg. IN rrnD-rrnE 1 -- Inverts the region between rrnD 73.74 min and rrnE 90.66 min strR = streptomycin resist. References: Ogawa, H, K Shimada, J Tomizawa 1968. Studies on radiation-sensitive mutants of E. coli. I Mutants defective in the repair synthesis. Mol. Gen. Genet. 101 3 :227-44. Return to Strain Description....
http://cgsc.biology.yale.edu/StrainRpt.php?ID=7637
*  .. Return to Strain Description
CGSC Strain#: 3513 Strain Designation: 188E      Source of Strain: J.A. Wechsler Sex: Hfr Point of Origin#: Map Position:. Chromosomal Markers: glnX44 AS, purF1, xyl-7, ilvD188 Oc, argH1 Strain Comments:. glnX44 AS -- Mutation is a C to T transition at nucleotide 34 3rd position of the anticodon purF1 -- is a very stable mutation and may be an intragenic deletion. glnX44 AS was formerly called supE44 glnX44 AS was formerly called su + II. glnX44 AS was formerly called glnV44 xyl-7 was formerly called xylA7 AS = amber UAG suppressor Oc = ochre UAA mutation References: Wechsler, J.A. 1969. Antipolarity in the ilv operon of Escherichia coli K-12. J.Bacteriol. 98:1179-1194. Return to Strain Description....
http://cgsc.biology.yale.edu/StrainRpt.php?ID=17193
*  Panasonic 14mm F2.5 review data at various sites.: Micro Four Thirds Talk Forum: Digital Photography
... Review. Reviews. Sample Images. Videos. Lenses. Forums. Forum index. Micro Four Thirds Talk Change forum Panasonic 14mm F2.5 review data at various sites. Shop cameras lenses ▾. Forum Parent First Previous Next Next unread. jericho77. Panasonic 14mm F2.5 review data at various sites. Aug 5, 2013. Reply to thread Reply with quote. Forum Parent First Previous Next Next unread. Posted by When Panasonic 14mm F2.5 review data at various sites. jericho77. Aug 5, 2013. Re: Panasonic 14mm F2.5 review data at various sites. Aug 5, 2013 3. Re: Panasonic 14mm F2.5 review data at various sites. Aug 5, 2013. Re: Panasonic 14mm F2.5 review data at various sites. Aug 5, 2013. Re: Panasonic 14mm F2.5 review data at various sites. jericho77. Aug 5, 2013. Aug 5, 2013. jericho77. Aug 5, 2013. Re: Panasonic 14mm F2.5 review data at various sites. jericho77. Aug 5, 2013. Re: Panasonic 14mm F2.5 review data at various sites. Aug 5, 2013 1. Re: Panasonic 14mm F2.5 review data at various sites. Alumna Gorp. Aug 5, 2013. ...
http://dpreview.com/forums/post/51930238
*  The genetic basis of a plant-insect coevolutionary key innovation. Proc Natl Acad Sci USA (PDF Downl
Proc Natl Acad Sci USA PDF Download Available. Proc Natl Acad Sci USA. © 2007 by The National Academy of Sciences of the USA www.pnas.org?cgi?doi?10.1073?pnas.0706229104PNAS. fossil calibrated, Bayesian relaxed molecular clock estimation of the Pierinae–Coliadinae divergence. Fossil and molecular data agree that the Brassicales appeared by 90 to 85 Mya, which is much earlier than the parallel evolution of glucosinolates in the Euphorbiaceae 58 Mya 28. In this article, we directly address the timing of the appearance of the glucosinolate-feeding Pierinae, using several independent molecular datasets and various calibration methods to generate a robust estimate of when Pieridae evolved relative to their Brassicales host plants. Pieridae-specific temporal reconstruction used a Bayesian relaxed molecular clock method on EF-1. Current and expected diversity, and divergence estimates for the Coliadinae and Pierinae subfamilies of Pieridae. However, there are significantly more species of Pierinae than expected, eve...
http://researchgate.net/publication/5771953_The_genetic_basis_of_a_plant-insect_coevolutionary_key_innovation._Proc_Natl_Acad_Sci_USA
*  Mystery of bacterial growth and resistance solved: Findings shed light on how bacteria form protecti
... ve biofilms -- ScienceDaily. Your source for the latest research news. Mystery of bacterial growth and resistance solved: Findings shed light on how bacteria form protective biofilms. Date: April 26, 2012 Source: The Scripps Research Institute Summary: Scientists have unraveled a complex chemical pathway that enables bacteria to form clusters called biofilms. Scientists at The Scripps Research Institute have unraveled a complex chemical pathway that enables bacteria to form clusters called biofilms. Past research had also revealed that nitric oxide is involved in influencing bacterial biofilm formation. Nitric Oxide Modulates Bacterial Biofilm Formation through a Multicomponent Cyclic-di-GMP Signaling Network. The Scripps Research Institute. "Mystery of bacterial growth and resistance solved: Findings shed light on how bacteria form protective biofilms." ScienceDaily. The Scripps Research Institute. Mystery of bacterial growth and resistance solved: Findings shed light on how bacteria form protective biof...
http://sciencedaily.com/releases/2012/04/120426135128.htm
*  Mankin Lab - Publications
Browse by year: 2014    2013    2012    2011    2010    2009    2008    2007    2006    2005    2004    2003    2002    2001    2000    1999    1998    1997    1996    1995   . Proc Natl Acad Sci USA 111, 9804-9809. 2014 The general mode of translation inhibition by macrolide antibiotics Proc Natl Acad Sci USA 111, 15958–15963. Top. Top. Top. Proc Natl Acad Sci USA 108, 5931-5932. Proc Natl Acad Sci USA 108, 10496-10501. Vázquez-Laslop, N., Ramu, H., Mankin, A. 2011 Nascent peptide in the ribosome exit tunnel affects functional properties of the A-Site of the peptidyl transferase center Mol Cell 41, 321-330. Top. Proc Natl Acad Sci USA 107, 1983-1988. A., Xiong, L., Mankin, A. H D 2010 Structures of the Escherichia coli ribosome with antibiotics bound near the peptidyl transferase center explain spectra of drug action Proc Natl Acad Sci USA 107, 17152-...
http://mankinlab.cpb.uic.edu/cgi-bin/publication.cgi
*  GO:1900911 regulation of olefin biosynthetic process
... Services. Research. Training. Industry. About us. QuickGO A fast browser for Gene Ontology terms and annotations. EBI Databases QuickGO GO:1900911 regulation of olefin biosynthetic process. Search for terms by keyword or ID: apoptosis GO:0006915 Search for proteins by name or accession: tropomyosin P06727. Web Services. Dataset. Term Basket. Term Information ID GO:1900911. Name regulation of olefin biosynthetic process. Ontology Biological Process. Definition Any process that modulates the frequency, rate or extent of olefin biosynthetic process. GONUTS GO:1900911 Wiki Page. Synonyms. Synonyms are alternative words or phrases closely related in meaning to the term name, with indication of the relationship between the name and synonym given by the synonym scope. Click on the icon for more details. Type Synonym. exact regulation of olefin synthesis. exact regulation of olefin biosynthesis. exact regulation of olefin formation. exact regulation of olefin anabolism. Ancestor Chart This chart is interactive; ...
http://ebi.ac.uk/QuickGO/GTerm?id=GO:1900911
*  Albums by Smokey Robinson : Rhapsody
... JavaScript is disabled in your browser settings. rhapsody.com requires JavaScript. Cancel. Free trial. x Music. Apps Devices. Pricing. Sign up. Company Info. Careers. Press Media. Partners. Account. Customer Support. Redeem Coupon. Buy a Gift. 2015 Rhapsody International Inc. ×. Rhapsody App for. Rhapsody International, Inc. Get app. Have the app. Music Apps Devices Pricing Listen Now Try Rhapsody. Sign In. Home. / Music. / Soul/R B. / Motown. / Smokey Robinson. / Facebook. Twitter. Albums by Smokey Robinson. Main Releases. Play. Smokey & Friends. Smokey Robinson. Play. Be Near Me. Smokey Robinson. Play. The Motown Years Live. Smokey Robinson. Play. Ev'ry Man Should Know. Smokey Robinson. Play. The Solo Anthology. Smokey Robinson. Play. The Stripped Mixes. Smokey Robinson. Play. Time Flies When You're Having Fun. Smokey Robinson. Play. Love Songs. Smokey Robinson. Play. Timeless Love. Smokey Robinson. Play. The Definitive Collection. Smokey Robinson. Play. 20th Century Masters: The Millennium Collection....
http://rhapsody.com/artist/smokey-robinson/albums
*  Robinson News | News | News Releases | Robinson Memorial Hospital
-Any- Foundation News Robinson News. Foundation Awards Scholarships Benefitting Employees September 25, 2014 The Robinson Memorial Hospital Foundation is pleased to announce the awarding of 9 scholarships to employees of Robinson Memorial Hospital and Rob... Robinson wins NorthCoast 99 Award 12 years in a row September 4, 2014 Robinson Memorial Hospital again has been named as one of the best 99 places to work in Northeast Ohio by the Employers Resource Council. Osteoporosis event to celebrate healthy aging month September 4, 2014 During Robinson Memorial Hospital’s celebration of healthy aging month, there will be a program on Osteoporosis on Wednesday, September 10 from 6 ... Foundation Awards Student Scholarships July 10, 2014 The Robinson Memorial Hospital Foundation is pleased to announce the award of seven scholarships to children of Robinson Memorial Hospital and Robi... Robinson Wound Care Center Joins Healogics, Inc. to Raise Awareness of Chronic Wounds May 29, 2014 The Robinson Wound Care Center at ...
http://robinsonmemorial.org/main/news-releases/451.aspx?email=1
*  Robinson News | News | News Releases | Robinson Memorial Hospital
-Any- Foundation News Robinson News. Foundation Awards Scholarships Benefitting Employees September 25, 2014 The Robinson Memorial Hospital Foundation is pleased to announce the awarding of 9 scholarships to employees of Robinson Memorial Hospital and Rob... Robinson wins NorthCoast 99 Award 12 years in a row September 4, 2014 Robinson Memorial Hospital again has been named as one of the best 99 places to work in Northeast Ohio by the Employers Resource Council. Osteoporosis event to celebrate healthy aging month September 4, 2014 During Robinson Memorial Hospital’s celebration of healthy aging month, there will be a program on Osteoporosis on Wednesday, September 10 from 6 ... Foundation Awards Student Scholarships July 10, 2014 The Robinson Memorial Hospital Foundation is pleased to announce the award of seven scholarships to children of Robinson Memorial Hospital and Robi... Robinson Wound Care Center Joins Healogics, Inc. to Raise Awareness of Chronic Wounds May 29, 2014 The Robinson Wound Care Center at ...
http://robinsonmemorial.org/main/news-releases/fuchs_appointed_as_general_counsel_16.aspx
*  Robinson News | News | News Releases | Robinson Memorial Hospital
-Any- Foundation News Robinson News. Foundation Awards Scholarships Benefitting Employees September 25, 2014 The Robinson Memorial Hospital Foundation is pleased to announce the awarding of 9 scholarships to employees of Robinson Memorial Hospital and Rob... Robinson wins NorthCoast 99 Award 12 years in a row September 4, 2014 Robinson Memorial Hospital again has been named as one of the best 99 places to work in Northeast Ohio by the Employers Resource Council. Osteoporosis event to celebrate healthy aging month September 4, 2014 During Robinson Memorial Hospital’s celebration of healthy aging month, there will be a program on Osteoporosis on Wednesday, September 10 from 6 ... Foundation Awards Student Scholarships July 10, 2014 The Robinson Memorial Hospital Foundation is pleased to announce the award of seven scholarships to children of Robinson Memorial Hospital and Robi... Robinson Wound Care Center Joins Healogics, Inc. to Raise Awareness of Chronic Wounds May 29, 2014 The Robinson Wound Care Center at ...
http://robinsonmemorial.org/main/news-releases/robinson_memorial_presents_poster_at_the_apic_annu_494.aspx?email=1
*  Robinson Health Center at Aurora | Robinson Memorial Hospital
robinson health center at aurora robinson memorial hospital about us foundation volunteer speaker s bureau press room contact us patients visitors medical services nursing find a doctor locations careers patient portal home locations robinson health center at aurora robinson health center at aurora walden place aurora ohio the robinson health center at aurora offers expert physicians personalized care and the latest in medical technology in one convenient location services and physician practices aurora primary care diagnostic x ray and laboratory services northeast ohio ob gyn robinson rehab center and sport clinic directions view larger map your name your email recipient email your comments word verification visitors patient portal key phone numbers visiting hours wheelchair assistance wi fi at robinson memorial hospital locations robinson memorial hospital robinson medical arts building robinson professional center robinson health center at aurora robinson health center at brimfield robinson health center ...
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*  Home | Robinson Memorial Hospital
Robinson Memorial Hospital. ABOUT US FOUNDATION VOLUNTEER SPEAKER'S BUREAU PRESS ROOM CONTACT US. Patients Visitors. Medical Services. Nursing. Find a Doctor. Locations. Careers. Patient Portal. Classes Events. Holiday Journeys - Grief Support. Mon, Oct 5, 2015. 2:00 PM - 4:00 PM. Holiday Journeys - Grief Support. Mon, Oct 5, 2015. 6:30 PM - 8:30 PM. Ostomy Support Group. Mon, Oct 5, 2015. 7:00 PM - 9:00 PM. Diabetes Support Group. Tue, Oct 6, 2015. 5:00 PM - 6:00 PM. Tue, Oct 6, 2015. 5:00 PM - 6:30 PM. Robinson In The News Robinson Memorial Hospital is now UH Portage Medical Center. Robinson Health System becomes part of University Hospitals on June 1. Robinson Memorial hosts 21st Annual Nursing Research Day. Robinson Memorial Hospital Foundation Hosts 2015 Robinson Society and Heritage Society Distinguished Giving Recognition. Doctors Receiving Top Scores in Patient Satisfaction Congratulations to the following doctors who rank in the 90th percentile on the Press Ganey Patient Satisfaction Survey. Jessica ...
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*  Rehabilitation | Robinson Memorial Hospital
Rehabilitation. Robinson Memorial Hospital. ABOUT US FOUNDATION VOLUNTEER SPEAKER'S BUREAU PRESS ROOM CONTACT US. Patients Visitors. Medical Services. Locations. Patient Portal. Medical Services. Rehabilitation. Rehabilitation. The Robinson Rehab Center and Sport Clinic works to rehabilitate each patient to his or her maximum potential and works to provide the patient with the necessary skills to maintain his or her progress. Ongoing communication between the patient, therapist and referring physician is the foundation of the center's rehabilitation programs. View Aquatic Classes. Team of Professionals Each therapist strives to stay on top of the latest technology and treatments and passes this knowledge along to patients. All Robinson Rehab Center and Sport Clinic professionals are licensed or certified by the State of Ohio. The center provides:. Aquatic aerobics, aquatic exercise and water arthritis classes in Ravenna. Locations: Robinson Medical Arts Building. 6847 North Chestnut Street Ravenna, Ohio 44266...
http://robinsonmemorial.org/main/rehabilitation.aspx
*  Shamim Patel - UK address and phone number - 192.com
... People. All People Businesses Places Electoral Roll Directors. Make sure the biggest decision you'll make is also the best. People. AZ-People. Surname - Patel. Your results for Shamim Patel. Filter Search. Search by name and/or location using the search form at the top of the page. Get access to likely ages Find old friends and family Double check names of spouses and children Trace your family tree Find out who your neighbours are Verify people are who they say they are. Make sure the biggest decision you'll make is also the best. Find out more. previous. 110 Results for Shamim Patel. Looking for Shamim Patel. Below are the results from the UK Electoral Roll and Company Director data. You can narrow your search by adding a location above if you wish. Name Address Other Occupants Electoral Roll Director Info Length of Occupancy Neighbours Property Price. 1 Shamim Patel. Age Guide: 40-44. Reading, Berkshire, RG2 Full Address. View. 2 Shamim R Patel. Age Guide: 30-34. Leicester, Leicestershire, LE5 Full Ad...
http://192.com/atoz/people/patel/shamim/
*  Phillip Phillips News, Pictures, and Videos | TMZ.com
Home Celebs Phillip Phillips Phillip Phillips. Idol Managers Claim John Mayer's ex-manager plotted to jack "American Idol" champ Phillip Phillips out from under his contract with the show -- according to a new lawsuit, but the bigger news is Phil is a READ MORE > - 9/21/2015 2:51 PM PDT. Phillip Phillips I Want to be Gone, Gone, Gone From My Idol Contract Phillip Phillips says "American Idol" producers are ruining his career ... American Idol Winner Phillip Phillips Mother Popped for DUI Phillip Phillips' mother Sheryl Phillips -- who appeared on several episodes of "American Idol" during Phillip's championship run last season -- was arrested for DUI earlier today, TMZ has READ MORE > - 964 days ago. Phillip Phillips I LOVE MY FAMILY But ... READ MORE > - 1064 days ago. Phillip Phillips Family Idol Champ s Forcing Us To Sell Pawn Shop Phillip Phillips' family says the singer left them high and dry after winning "American Idol" -- refusing to help them out financially -- and now, they've been forced to sell th...
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*  Shadowing | Robinson Memorial Hospital
Shadowing. Robinson Memorial Hospital. ABOUT US FOUNDATION VOLUNTEER SPEAKER'S BUREAU PRESS ROOM CONTACT US. Patients Visitors. Medical Services. Nursing. Find a Doctor. Locations. Careers. Patient Portal. Home. Volunteer. Shadowing. Shadowing. Robinson Memorial Hospital offers several types of opportunities for short-term observational learning experiences for high school, college and adult students pursuing healthcare careers. The process to apply for a shadow experience depends on the age of the applicant. Note: Robinson Memorial Hospital has a mandatory flu vaccination policy for all employees, volunteers, contracted workers and shadow students. Students wanting to shadow at Robinson Memorial must provide proof of receiving a flu vaccine during current flu season - either by a receipt showing the student's name and detail of service from the provider, an insurance benefits explanation or detailed note from a physician. Students can bring their vaccine documentation the morning of their assigned shadow exp...
http://robinsonmemorial.org/Main/Shadowing.aspx
*  [Haskell-cafe] System.Random.Shuffle fix
System.Random.Shuffle fix. System.Random.Shuffle fix friggin friggin frigginfriggins at gmail.com. Previous message: A small display problem using Helium Next message: System.Random.Shuffle fix Messages sorted by:. I was looking for a shuffling algorithm to shuffle mp3-playlists so was very happy to see System.Random.Shuffle: http://hackage.haskell.org/cgi-bin/hackage-scripts/package/random-shuffle-0.0.2 However I get errors,non-exhaustive patterns in function shufleTree or extractTree depending how I call it. Errors are at the bottom. I fixed it but I don't have the math skills to see if I perhaps broke it statistically ... Here is my fix, someone don't remember who, helped me a little : http://hpaste.org/fastcgi/hpaste.fcgi/view?id=2789#a2789 the shuffle at the end is with the fix. *Freet S.shuffle Loading package syb ... linking ... Loading package base-3.0.3.0 ... linking ... Loading package old-locale-1.0.0.1 ... linking ... Loading package old-time-1.0.0.1 ... linking ... Loading package random-1.0.0.1 ...
https://mail.haskell.org/pipermail/haskell-cafe/2009-March/058399.html
*  OriGene - LRRC2 (NM 024512) cDNA Clone
OriGene - LRRC2 NM 024512 cDNA Clone. cDNA Clones TrueORF cDNA Clones H/M/R Viral ORF Clones Destination Vector TrueClone Human TrueClone Mouse Organelle Marker Plasmids MicroRNA Tools Mutant and Variant Clones Plasmid Purification Kits Transfection Reagents Gene Synthesis Service. Home TrueClone LRRC2 Clone. LRRC2 NM 024512 Human cDNA Clone. SC310473 LRRC2 untagged -Human leucine rich repeat containing 2 LRRC2, NM 024512.2, 10ug $680 3 weeks. Reference Data RefSeq: NM 024512.2, NP 078788. Synonyms : leucine-rich repeat-containing 2; leucine rich repeat containing 2. More TrueClone Citations >>. LRRC2 Mouse Clones SKU Description Amount Price Shipping. MC211501 Lrrc2 untagged - Mouse leucine rich repeat containing 2 Lrrc2, 10ug 10 ug $380 3 weeks. MR216368 Lrrc2 Myc-DDK-tagged - Mouse leucine rich repeat containing 2 Lrrc2 10 ug $380 Next day. MG216368 Lrrc2 GFP-tagged - Mouse leucine rich repeat containing 2 Lrrc2, 10ug 10 ug $420 3 weeks. MR216368L1 Lenti ORF clone of Lrrc2 Myc-DDK-tagged - Mouse leucine ri...
http://origene.com/cdna/trueclone/accession/NM_024512/SC310473.aspx

Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.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.Coles 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.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.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.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.Chromosome regionsDeletion (genetics)Pituitary-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.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.Immunophenotyping: Immunophenotyping is a technique used to study the protein expressed by cells. This technique is commonly used in basic science research and laboratory diagnostic purpose.Gross pathology: Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy.Ferric uptake regulator family: In molecular biology, the ferric uptake regulator (FUR) family of proteins includes metal ion uptake regulator proteins. These are responsible for controlling the intracellular concentration of iron in many bacteria.Membrane protein: Membrane proteins are proteins that interact with biological membranes. They are one of the common types of protein along with soluble globular proteins, fibrous proteins, and disordered proteins.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.Gene signature: A gene signature is a group of genes in a cell whose combined expression patternItadani H, Mizuarai S, Kotani H. Can systems biology understand pathway activation?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.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.DNA-binding proteinMinC: The MinC protein is one of three proteins encoded by the minB operon and which is required to generate pole to pole oscillations prior to bacterial cell division as a means of specifying the midzone of the cell. This function is achieved by preventing the formation of the divisome Z-ring around the poles.Iridogoniodysgenesis, 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.Thermal cyclerSignature-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.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.Zuotin: Z-DNA binding protein 1, also known as Zuotin, is a Saccharomyces cerevisiae yeast gene.GAI (Arabidopsis thaliana gene)Flow cytometry: In biotechnology, flow cytometry is a laser-based, biophysical technology employed in cell counting, cell sorting, biomarker detection and protein engineering, by suspending cells in a stream of fluid and passing them by an electronic detection apparatus. It allows simultaneous multiparametric analysis of the physical and chemical characteristics of up to thousands of particles per second.Genetic variation: right|thumbSuppressor 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.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).Point mutationEukaryotic transcription: Eukaryotic transcription is the elaborate process that eukaryotic cells use to copy genetic information stored in DNA into units of RNA replica. Gene transcription occurs in both eukaryotic and prokaryotic cells.Matrix model: == Mathematics and physics ==Dermal fibroblast: Dermal fibroblasts are cells within the dermis layer of skin which are responsible for generating connective tissue and allowing the skin to recover from injury. Using organelles (particularly the rough endoplasmic reticulum), dermal fibroblasts generate and maintain the connective tissue which unites separate cell layers.Iroquois homeobox factor: Iroquois homeobox factors are a family of homeodomain transcription factors that play a role in many developmental processes.WGAViewer: 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.List of strains of Escherichia coli: Escherichia coli is a well studied bacterium that was first identified by Theodor Escherich, after whom it was later named.RNA transfection: RNA transfection is the process of deliberately introducing RNA into a living cell. RNA can be purified from cells after lysis or synthesized from free nucleotides either chemically, or enzymatically using an RNA polymerase to transcribe a DNA template.Triparental mating: Triparental mating is a form of Bacterial conjugation where a conjugative plasmid present in one bacterial strain assists the transfer of a mobilizable plasmid present in a second bacterial strain into a third bacterial strain. Plasmids are introduced into bacteria for such purposes as transformation, cloning, or transposon mutagenesis.Haptotaxis: Haptotaxis (from Greek ἅπτω (hapto, "touch, fasten") and τάξις (taxis, "arrangement, order")) is the directional motility or outgrowth of cells, e.g.Temporal analysis of products: Temporal Analysis of Products (TAP), (TAP-2), (TAP-3) is an experimental technique for studyingIndy (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.OpsismodysplasiaDrosophila embryogenesis: Drosophila embryogenesis, the process by which Drosophila (fruit fly) embryos form, is a favorite model system for geneticists and developmental biologists studying embryogenesis. The small size, short generation time, and large brood size make it ideal for genetic studies.Cellular microarray: A cellular microarray is a laboratory tool that allows for the multiplex interrogation of living cells on the surface of a solid support. The support, sometimes called a "chip", is spotted with varying materials, such as antibodies, proteins, or lipids, which can interact with the cells, leading to their capture on specific spots.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Squamosa promoter binding protein: The SQUAMOSA promoter binding protein-like (SBP or SPL) family of transcription factors are defined by a plant-specific DNA-binding domain. The founding member of the family was identified based on its specific in vitro binding to the promoter of the snapdragon SQUAMOSA gene.Gene polymorphismEpicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..GC box: In molecular biology, a GC box is a distinct pattern of nucleotides found in the promoter region of some eukaryotic genes upstream of the TATA box and approximately 110 bases upstream from the transcription initiation site. It has a consensus sequence GGGCGG which is position dependent and orientation independent.Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.Virulence: Virulence is, by MeSH definition, the degree of pathogenicity within a group or species of parasites as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenicity of an organism - its ability to cause disease - is determined by its virulence factors.RNAi-Based Identification System and interference of Specific Cancer Cells: A “classifier” was created to classify cells by identifying specific characteristics of Cervical Cancer. These characteristics were consistent with HeLa cells, which served as the target cell line for cell death.Repressor: In molecular genetics, a repressor is a DNA- or RNA-binding protein that inhibits the expression of one or more genes by binding to the operator or associated silencers. A DNA-binding repressor blocks the attachment of RNA polymerase to the promoter, thus preventing transcription of the genes into messenger RNA.CS-BLAST

(1/63708) Mapping of the homothallic genes, HM alpha and HMa, in Saccharomyces yeasts.

Two of the three homothallic genes, HM alpha and HMa, showed direct linkage to the mating-type locus at approximately 73 and 98 strans (57 and 65 centimorgans [cM], respectively, whereas, the other, HO, showed no linkage to 25 standard markers distributed over 17 chromosomes including the mating-type locus. To determine whether the HM alpha and HMa loci located on the left or right side of the mating-type locus, equations for three factor analysis of three linked genes were derived. Tetrad data were collected and were compared with expected values by chi 2 statistics. Calculations indicated that the HM alpha gene is probably located on the right arm at 95 strans (65 cM) from the centromere and the HMa locus at approximately 90 strans (64 cM) on the left arm of chromosome III.  (+info)

(2/63708) Sulfhydryl compounds in melanocytes of yellow (Ay/a), nonagouti (a/a), and agouti (A/A) mice.

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

(3/63708) Regulation of body length and male tail ray pattern formation of Caenorhabditis elegans by a member of TGF-beta family.

We have identified a new member of the TGF-beta superfamily, CET-1, from Caenorhabditis elegans, which is expressed in the ventral nerve cord and other neurons. cet-1 null mutants have shortened bodies and male tail abnormal phenotype resembling sma mutants, suggesting cet-1, sma-2, sma-3 and sma-4 share a common pathway. Overexpression experiments demonstrated that cet-1 function requires wild-type sma genes. Interestingly, CET-1 appears to affect body length in a dose-dependent manner. Heterozygotes for cet-1 displayed body lengths ranging between null mutant and wild type, and overexpression of CET-1 in wild-type worms elongated body length close to lon mutants. In male sensory ray patterning, lack of cet-1 function results in ray fusions. Epistasis analysis revealed that mab-21 lies downstream and is negatively regulated by the cet-1/sma pathway in the male tail. Our results show that cet-1 controls diverse biological processes during C. elegans development probably through different target genes.  (+info)

(4/63708) Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch.

The mouse mutants of the hemimelia-luxate group (lx, lu, lst, Dh, Xt, and the more recently identified Hx, Xpl and Rim4; [1] [2] [3] [4] [5]) have in common preaxial polydactyly and longbone abnormalities. Associated with the duplication of digits are changes in the regulation of development of the anterior limb bud resulting in ectopic expression of signalling components such as Sonic hedgehog (Shh) and fibroblast growth factor-4 (Fgf4), but little is known about the molecular causes of this misregulation. We generated, by a transgene insertion event, a new member of this group of mutants, Sasquatch (Ssq), which disrupted aspects of both anteroposterior (AP) and dorsoventral (DV) patterning. The mutant displayed preaxial polydactyly in the hindlimbs of heterozygous embryos, and in both hindlimbs and forelimbs of homozygotes. The Shh, Fgf4, Fgf8, Hoxd12 and Hoxd13 genes were all ectopically expressed in the anterior region of affected limb buds. The insertion site was found to lie close to the Shh locus. Furthermore, expression from the transgene reporter has come under the control of a regulatory element that directs a pattern mirroring the endogenous expression pattern of Shh in limbs. In abnormal limbs, both Shh and the reporter were ectopically induced in the anterior region, whereas in normal limbs the reporter and Shh were restricted to the zone of polarising activity (ZPA). These data strongly suggest that Ssq is caused by direct interference with the cis regulation of the Shh gene.  (+info)

(5/63708) Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.

BACKGROUND: Since 1968 it has been known that bone marrow transplantation can ameliorate severe combined immunodeficiency, but data on the long-term efficacy of this treatment are limited. We prospectively studied immunologic function in 89 consecutive infants with severe combined immunodeficiency who received hematopoietic stem-cell transplants at Duke University Medical Center between May 1982 and September 1998. METHODS: Serum immunoglobulin levels and lymphocyte phenotypes and function were assessed and genetic analyses performed according to standard methods. Bone marrow was depleted of T cells by agglutination with soybean lectin and by sheep-erythrocyte rosetting before transplantation. RESULTS: Seventy-seven of the infants received T-cell-depleted, HLA-haploidentical parental marrow, and 12 received HLA-identical marrow from a related donor; 3 of the recipients of haploidentical marrow also received placental-blood transplants from unrelated donors. Except for two patients who received placental blood, none of the recipients received chemotherapy before transplantation or prophylaxis against graft-versus-host disease. Of the 89 infants, 72 (81 percent) were still alive 3 months to 16.5 years after transplantation, including all of the 12 who received HLA-identical marrow, 60 of the 77 (78 percent) who were given haploidentical marrow, and 2 of the 3 (67 percent) who received both haploidentical marrow and placental blood. T-cell function became normal within two weeks after transplantation in the patients who received unfractionated HLA-identical marrow but usually not until three to four months after transplantation in those who received T-cell-depleted marrow. At the time of the most recent evaluation, all but 4 of the 72 survivors had normal T-cell function, and all the T cells in their blood were of donor origin. B-cell function remained abnormal in many of the recipients of haploidentical marrow. In 26 children (5 recipients of HLA-identical marrow and 21 recipients of haploidentical marrow) between 2 percent and 100 percent of B cells were of donor origin. Forty-five of the 72 children were receiving intravenous immune globulin. CONCLUSIONS: Transplantation of marrow from a related donor is a life-saving and life-sustaining treatment for patients with any type of severe combined immunodeficiency, even when there is no HLA-identical donor.  (+info)

(6/63708) Phenotypic analysis of human glioma cells expressing the MMAC1 tumor suppressor phosphatase.

MMAC1, also known as PTEN or TEP-1, was recently identified as a gene commonly mutated in a variety of human neoplasias. Sequence analysis revealed that MMAC1 harbored sequences similar to those found in several protein phosphatases. Subsequent studies demonstrated that MMAC1 possessed in vitro enzymatic activity similar to that exhibited by dual specificity phosphatases. To characterize the potential cellular functions of MMAC1, we expressed wild-type and several mutant variants of MMAC1 in the human glioma cell line, U373, that lacks endogenous expression. While expression of wild-type MMAC1 in these cells significantly reduced their growth rate and saturation density, expression of enzymatically inactive MMAC1 significantly enhanced growth in soft agar. Our observations indicate that while wild-type MMAC1 exhibits activities compatible with its proposed role as a tumor suppressor, cellular expression of MMAC1 containing mutations in the catalytic domain may yield protein products that enhance transformation characteristics.  (+info)

(7/63708) The role of RBF in the introduction of G1 regulation during Drosophila embryogenesis.

The first appearance of G1 during Drosophila embryogenesis, at cell cycle 17, is accompanied by the down-regulation of E2F-dependent transcription. Mutant alleles of rbf were generated and analyzed to determine the role of RBF in this process. Embryos lacking both maternal and zygotic RBF products show constitutive expression of PCNA and RNR2, two E2F-regulated genes, indicating that RBF is required for their transcriptional repression. Despite the ubiquitous expression of E2F target genes, most epidermal cells enter G1 normally. Rather than pausing in G1 until the appropriate time for cell cycle progression, many of these cells enter an ectopic S-phase. These results indicate that the repression of E2F target genes by RBF is necessary for the maintenance but not the initiation of a G1 phase. The phenotype of RBF-deficient embryos suggests that rbf has a function that is complementary to the roles of dacapo and fizzy-related in the introduction of G1 during Drosophila embryogenesis.  (+info)

(8/63708) JunB is essential for mammalian placentation.

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


What's the difference between Broad Autism Phenotype and PDD-NOS?


I just heard about Broad Autism Phenotype and it sounds the same as Pervasive Developmental Disorder-Not Otherwise Specified. Is it? How are they different?
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None in functioning level.  What it is is showing a genetic link in families of those with ASD dx and family members showing traits or PDD.NOS

Phenotype is referring to a genetic link, broad autism is just a way to describe that we can't pinpoint where or why but we see autistic features in multiple family members

I guess PDD.NOS would be 1 person with autistic features, broad autism phenotype is PDD.NOS exhibited in multiple family members of the dx person


Removing the A and B antigens from red blood cells is a phenocopy of what genetic phenomenon?


Also, Enzymes are used in blood banks to remove the A and B anitgens from blood types A and B. This makes the blood type O. 
Does this alter the phenotype or the genotype?
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phenotype. if you are also interested in phenotype ang genotype read more about bombay phenotype.


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


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


Does anyone know if all the Rh negative individuals express only the ce antigens of the Rh system?


I can't find information about the RhCE gene expression in Rh negative individuals.
I know almost 95% of them have the ce Rh system phenotype, but I've found people expressing C o E antigen, so I would like to know why. 
Thanks...
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How does a person increase their testosterone production?


im a pubescent teenager, and i want to know how to increase testosterone production in my body. In biology class we learned that the higher the amount of testosterone males produced in puberty, the more likely women will find him attractive (finer facial structure, better phenotype, etc...) throughout adult life. 

So i wanted to know what were some ways i could increase the testosterone production in my body?
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Lifting weights is the best type of exercise to stimulate testosterone production so you should get yourself on a good routine of weight lifting. If you are a teenager it's likely you are not in puberty any longer since puberty is when a male is capable of reproducing or in more simple terms, having the ability to get a woman pregnant. You have this ability when your body is producing healthy and viable sperm and then you move into the stage of adolescence.


Wouldn't Barr Bodies contradict with dominant and recessive principles?


I learned that Barr bodies are inactivated X chromosomes in female cells at random.  Well, what if a female had a recessive Xr chromosome and a dominant Xd chromosome.  If the Barr body turned out to be the Xd chromosome wouldn't that mean that even if the female had these two chromosomes, her phenotype will still be expressed as the recessive X chromosome?  This would mean that it doesn't matter if you have dominant or recessive X chromosomes, the only thing that matters is which one turns out randomly to be the Barr body.
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Well...we haven't learned that far yet in Bio so I can't help you here. All we have learned about is the punnett square using like Tt and Rr or Xx we havent had 2 different numbers yet. I would suggest you ask this question in the Biology....there are LOTS of people there who know answers like this!


My mother and father are both O positive blood types and I am A negative. How is this possible?


Both parents have health problems and I'm sure of their blood type and I have been pregnant twice and am sure of my blood type and have been given a shot for the rh negative factor as my husband is A positive. several (maybe5)generations ago the same 2 family's were together could that still result in "bombay phenotype"( so technically my parents are like my 7th cousins i think) comon' don't laugh :)
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Hmm. 

To be a negative type when you're the child of 2 positive types isn't particularly unusual, though it's not the most common result. It requires both parents to be carrying a hidden negative allele, and for each of those hidden alleles to be passed on to the child.

By the normal rules of inheritance an A type cannot be the child of 2 O types. A alleles aren't usually recessive/hidden, so A type children need at least 1 parent who is A or AB type. In fact, being O type usually entails having nothing but O alleles, so 2 O parents can only have O type children. You were probably aware of this.

Bombay phenotype could explain the situation - but I'm sceptical. It's caused by a pair of recessive alleles, (on a different locus in the genome) so, like being O type, having the phenotype requires 1 of these alleles from each parent. This pair of alleles fails to create the H antigen on blood cells, an antigen which is common to all normal A, B, AB and even O types, and which, crucually, A and B antigens can't develop without. Anti-A and Anti-B antibodies develop as a result. Since ABO blood typing is based on the presence or absence of A and B-based antigens and antibodies, they are typed as O.

So Bombay phenotype masks A and B alleles allowing someone to be genetically A, B or AB, yet without the antigens to match. If either of your parents had the condition they could have an A allele and have passed it on you. So that makes sense.

However, Bombay phenotype is found in 4 people per million. I've answered several questions in which I've mentioned it as a possible explanation, and seen it mentioned in many other answers, but I do wonder whether it's been the correct explanation in any of them. Certainly I've never seen anyone on here say that they've been confirmed as having Bombay phenotype.

I'm not sure from what you say how much in-breeding (for want of a better word) has gone on in your family. It increases the chances of otherwise rare alleles being paired together (many of us carry recessive alleles which are rare in the population, but there's a 50% chance one's sibling has it, so if a man has a child with his sister...). If such a pairing is to be maintained, that requires the in-breeding to be maintained. Depending on what happened in your family the chance of you having Bombay phenotype might increase slightly, but it's still not likely.

Also, Bombay blood types have anti-H antibodies in them, meaning that all other blood types cause a very negative reaction if transfused into them. If, in their poor health, your parents have received any transfusions which include red blood cells, that would rule them out immediately anyway.

The obvious explanation of course is that one or both of your parents aren't your biological parents. You need something more definite than blood types if you want to check that properly - a DNA test.

Whilst you said that you know your parents' blood types, is it possible they've been mistyped? It's unusual, (more unusual than infidelity, unfortunately) but not unheard of for some sub-types of A to be mis-typed as O. That might provide an explanation.


Hi I am a 19 years old girl but i am only 5 feet tall.Can I have some tips that can help me increase my height?


I am from Bangladesh and maybe environment is playing a role to do with my height's phenotype,it can be my genotype too.however,i need some good tips that i can work on (at home) to increase my height at least 4-5 inches!please don't disappoint me saying i am too old for this!
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they best thing to do is eat lots of protein.once you have done that stretch Your joints to pull your cartilage this will increase your height by at least 5 inches