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  • mutations
  • Researchers have identified more than 1,800 mutations in the BRCA2 gene. (nih.gov)
  • Most BRCA2 gene mutations lead to the production of an abnormally small, nonfunctional version of the BRCA2 protein from one copy of the gene in each cell. (nih.gov)
  • As a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. (nih.gov)
  • Many of the same BRCA2 gene mutations that increase the risk of breast cancer (described above) also increase the risk of ovarian cancer. (nih.gov)
  • Women with BRCA2 gene mutations have an approximately 12 to 25 percent chance of developing ovarian cancer in their lifetimes, as compared with 1.6 percent in the general population. (nih.gov)
  • More than 30 inherited BRCA2 gene mutations have been found to increase the risk of prostate cancer. (nih.gov)
  • BRCA2 gene mutations likely reduce the BRCA2 protein's ability to repair DNA, allowing potentially damaging mutations to persist in various other genes. (nih.gov)
  • Inherited mutations in the BRCA2 gene also increase the risk of several other types of cancer, including pancreatic cancer and an aggressive form of skin cancer called melanoma. (nih.gov)
  • More than 150 PSEN1 gene mutations have been identified in patients with early-onset Alzheimer disease, a degenerative brain condition that begins before age 65. (nih.gov)
  • Mutations in the PSEN1 gene are the most common cause of early-onset Alzheimer disease, accounting for up to 70 percent of cases. (nih.gov)
  • Almost all PSEN1 gene mutations change single building blocks of DNA (nucleotides) in a particular segment of the PSEN1 gene. (nih.gov)
  • Studies suggest that the PSEN1 gene mutation that causes hidradenitis suppurativa has a different effect on γ-secretase function than the mutations that cause early-onset Alzheimer disease. (nih.gov)
  • Several mutations in the APC gene have been found in people with a type of aggressive but noncancerous (benign) growth called a desmoid tumor. (nih.gov)
  • APC gene mutations typically cause formation of desmoid tumors in the abdomen, but these tumors can also occur in other parts of the body. (nih.gov)
  • Although APC -related desmoid tumors are commonly associated with a form of colon cancer called familial adenomatous polyposis (described below), APC gene mutations can cause tumors in individuals without this inherited disease. (nih.gov)
  • Most APC gene mutations that cause sporadic desmoid tumors lead to an abnormally short APC protein. (nih.gov)
  • More than 700 mutations in the APC gene have been identified in families with the classic and attenuated types of familial adenomatous polyposis (FAP). (nih.gov)
  • Mutations in the APC gene are also responsible for a disorder called Turcot syndrome, which is closely related to familial adenomatous polyposis. (nih.gov)
  • Approximately two-thirds of people with Turcot syndrome have mutations in the APC gene. (nih.gov)
  • Somatic mutations in the APC gene may be involved in the development of a small percentage of stomach (gastric) cancers. (nih.gov)
  • More than 30 mutations in the ATP1A2 gene have been identified in people with familial hemiplegic migraine type 2 (FHM2). (nih.gov)
  • ATP1A2 gene mutations can also cause sporadic hemiplegic migraine. (nih.gov)
  • Genes can acquire mutations in their sequence, leading to different variants, known as alleles, in the population. (wikipedia.org)
  • Mutations in the ABL1 gene are associated with chronic myelogenous leukemia (CML). (wikipedia.org)
  • In 2009 two separate research groups analysed 26 unrelated families who presented with a type6 ALS phenotype, and found 14 mutations in the FUS gene. (wikipedia.org)
  • Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. (wikipedia.org)
  • proteins
  • Some regulatory modules control the activities of the genes encoding regulatory proteins. (pnas.org)
  • These genes, and the proteins they encode, are important new potential targets for novel drugs that could selectively cut off a tumor's blood supply without affecting the blood vessels of healthy tissues, overcoming one of the major concerns of current anticancer therapies targeted at blood vessel growth. (nih.gov)
  • MHC class II genes provide instructions for making proteins that are present on the surface of certain immune system cells. (nih.gov)
  • The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. (wikipedia.org)
  • particular genes
  • Functional linkages between these particular genes, and their associated regulatory modules, define the core networks underlying development. (pnas.org)
  • Beta-catenin helps control the activity (expression) of particular genes and promotes the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation). (nih.gov)
  • mutation
  • However, not everyone who inherits a mutation in the BRCA2 gene will develop cancer. (nih.gov)
  • At least one mutation in the PSEN1 gene has been found to cause hidradenitis suppurativa, a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin that develop in hair follicles. (nih.gov)
  • The identified mutation deletes a single DNA building block (nucleotide) from the PSEN1 gene, written as 725delC. (nih.gov)
  • These differences may explain why no single PSEN1 gene mutation has been reported to cause the signs and symptoms of both diseases. (nih.gov)
  • The most common mutation in FAP is a deletion of five building blocks of DNA (nucleotides) in the APC gene. (nih.gov)
  • Although most people with FAP will develop colorectal cancer, the number of polyps and the time frame in which they become cancerous depend on the location of the mutation in the APC gene. (nih.gov)
  • A certain mutation in the APC gene (unrelated to Turcot syndrome) is found in approximately 6 percent of people with Ashkenazi (eastern and central European) Jewish heritage. (nih.gov)
  • At least one mutation in the ATP1A2 gene can cause alternating hemiplegia of childhood. (nih.gov)
  • Genetics
  • Sixteen years later, in 1905, Wilhelm Johannsen introduced the term 'gene' and William Bateson that of 'genetics' while Eduard Strasburger, amongst others, still used the term 'pangene' for the fundamental physical and functional unit of heredity. (wikipedia.org)
  • Gene is a peer-reviewed scientific journal in genetics, focusing on the cloning, structure, and function of genes. (wikipedia.org)
  • sequence
  • They explain exactly how genomic sequence encodes the regulation of expression of the sets of genes that progressively generate developmental patterns and execute the construction of multiple states of differentiation. (pnas.org)
  • A gene is a sequence of DNA or RNA that codes for a molecule that has a function. (wikipedia.org)
  • Therefore, a broad, modern working definition of a gene is any discrete locus of heritable, genomic sequence which affect an organism's traits by being expressed as a functional product or by regulation of gene expression. (wikipedia.org)
  • The product DNA sequence matched pre-established gene markers specific to this chromosome. (wikipedia.org)
  • transcriptional
  • The end result is the precise transcriptional control of the associated genes. (pnas.org)
  • Transcriptional regulation of the presenilin-1 gene: implication in Alzheimer's disease. (nih.gov)
  • family
  • The HLA-DPB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. (nih.gov)
  • The HLA complex is the human version of the major histocompatibility complex (MHC), a gene family that occurs in many species. (nih.gov)
  • The MTRR gene is associated with a family of electron transferases known as the Ferredoxin-NADP(+) reductase (FNR) family. (wikipedia.org)
  • regulation
  • In islets, induces type B pancreatic cell proliferation through up-regulation of genes that activate cell cycle, as well as genes that cause degradation of the CDKN1A (By similarity). (nih.gov)
  • Induces
  • Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes (By similarity). (nih.gov)
  • Vaccination with irradiated granulocyte-macrophage colony-stimulating factor (GM-CSF)-secreting gene-transduced cancer vaccines induces tumoricidal immune responses. (aacrjournals.org)
  • sequences
  • But gene regulatory network architecture can be authenticated only by experimental molecular biology in which the functional meaning of given regulatory sequences is directly determined. (pnas.org)
  • These genes make up different DNA sequences called genotypes. (wikipedia.org)
  • Prediction of the coding sequences of unidentified human genes. (wikipedia.org)
  • expression
  • They regulate the expression of thousands of genes in any given developmental process. (pnas.org)
  • By comparing the gene expression profiles of endothelial cells from regenerating liver to those derived from tumor-bearing livers, the researchers found 13 distinct genes that were selectively overexpressed (turned on to a greater degree than other genes) during disease-related angiogenesis. (nih.gov)
  • Upon catecholamines stimulation, regulates gene expression that controls oxidative metabolism in skeletal muscle (By similarity). (nih.gov)
  • During gene expression, the DNA is first copied into RNA. (wikipedia.org)
  • Note : In all these diseases we can observe the expression of the AAMP gene. (wikipedia.org)
  • tumor
  • In a Phase I human gene therapy trial, eight immunocompetent prostate cancer (PCA) patients were treated with autologous, GM-CSF-secreting, irradiated tumor vaccines prepared from ex vivo retroviral transduction of surgically harvested cells. (aacrjournals.org)
  • Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene. (wikipedia.org)
  • class II g
  • Each MHC class II gene has many possible variations, allowing the immune system to react to a wide range of foreign invaders. (nih.gov)
  • humans
  • A team of researchers at the National Cancer Institute (NCI), part of the National Institutes of Health (NIH), has uncovered a set of genes that are turned on, or expressed, at high levels only in the blood vessels that feed tumors in mice and humans. (nih.gov)
  • UDP-N-acetylglucosamine-peptide N-acetylglucosaminyltransferase (EC 2.4.1.255), also known as O-linked β-N-acetylglucosamine transferase and O-GlcNAc transferase, OGT is an enzyme that in humans is encoded by the OGT gene. (wikipedia.org)
  • Methionine synthase reductase also known as MSR is an enzyme that in humans is encoded by the MTRR gene. (wikipedia.org)
  • exons
  • For example, regulatory regions of a gene can be far removed from its coding regions, and coding regions can be split into several exons. (wikipedia.org)
  • The ABL1 gene is expressed as either a 6- or a 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11. (wikipedia.org)
  • The gene comprises 15 exons and includes numerous cytolosic mitochondrial mRNA isoforms. (wikipedia.org)
  • alleles
  • Researchers have identified hundreds of different versions (alleles) of the HLA-DPB1 gene, each of which is given a particular number (such as HLA-DPB1*03:01 ). (nih.gov)
  • Genes evolve due to natural selection or survival of the fittest of the alleles. (wikipedia.org)
  • plays
  • However, it is unclear what specific role the HLA-DPB1 gene variant plays in development of this condition. (nih.gov)
  • isoforms
  • Multiple transcript variants encoding different isoforms have been found for this gene. (nih.gov)
  • Two alternatively spliced transcript variants encoding distinct isoforms (nucleocytoplasmic and mitochondrial) have been found for this gene. (wikipedia.org)
  • Two transcript variants encoding distinct isoforms have been identified for this gene. (wikipedia.org)
  • regulatory
  • The Special Feature on gene regulatory networks in this issue of PNAS highlights an emerging field in the biosciences: gene regulatory networks that control animal development. (pnas.org)
  • Gene regulatory networks explicitly represent the causality of developmental processes. (pnas.org)
  • Causality in the regulatory genome: The reasons why genes are expressed when and where they are in the spatial domains of the developing organism are revealed in network "architecture," that is, in the total aggregate pattern of regulatory linkages. (pnas.org)
  • Definitive regulatory functions emerge only from the architecture of intergenic linkages, and these functions are not visible at the level of any individual genes. (pnas.org)
  • It is most important to determine regulatory network architecture, and this can be done by experimental perturbation followed by measurement of the effects on function of many individual genes. (pnas.org)
  • Network substructure: Gene regulatory networks are inhomogeneous compositions of different kinds of subcircuits, each performing a specific kind of function. (pnas.org)
  • Reengineering genomic control systems: To redesign these most potent of all biological control systems, to both intellectual and practical ends, it is necessary to understand thoroughly the flow of causality in a genomically encoded gene regulatory network. (pnas.org)
  • variants
  • Variants of the HLA-DPB1 gene are associated with immune reactions to beryllium, a metallic element that can be toxic. (nih.gov)
  • cell
  • These data suggest that both T-cell and B-cell immune responses to human PCA can be generated by treatment with irradiated, GM-CSF gene-transduced PCA vaccines. (aacrjournals.org)