• 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)
  • Drosophila
  • Later on, in the 1970s, the achaete-scute complex, a complex of genes that are involved in regulating the early steps of neural development in Drosophila, were identified[by whom? (wikipedia.org)
  • They are grouped in distinct families on the basis of closer sequence similarities in the bHLH domain: Genes of the ASC and Ngn families, and possibly members of the family of ato homologues, have a similar proneural function in vertebrates to that of their Drosophila counterparts, whereas other neural bHLH genes are involved in specifying neuronal fates or in neuronal differentiation, but have no proneural role. (wikipedia.org)
  • Orthologous genes exist throughout the Metazoa, including extensive study of the ectopic expression in Drosophila using murine Pax6. (wikipedia.org)
  • The halloween genes are a set of genes identified in Drosophila melanogaster that influence embryonic development. (wikipedia.org)
  • cells
  • 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)
  • 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)
  • 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)
  • From the same ectodermal cell types, neural or epidermal cells can develop based on interactions between proneural and neurogenic genes. (wikipedia.org)
  • The proneural genes are expressed in groups of cells (proneural clusters) from which one progenitor cell - typically the one in the middle - will be singled out, leading to the formation of many different types of neurons in the central and peripheral nervous systems. (wikipedia.org)
  • The cells within a cluster that express a proneural gene (called a proneural cluster) can be thought of as cells of an equivalence group. (wikipedia.org)
  • In neuroectoderm, neurogenic genes are required to single out cells from within proneural clusters to form neuronal precursors, leaving the remaining cells of proneural clusters to develop into epidermal cells. (wikipedia.org)
  • HeLa cells helped develop the polio vaccine and aided in the success of in vitro fertilization, cloning, and gene mapping. (independent.com)
  • For a more general list of housekeeping genes see housekeeping genes Reference genes are expressed in all cells of an organism under normal and patho-physiological conditions. (wikipedia.org)
  • protein
  • They are the chief protein components of chromatin, acting as spools around which DNA winds, and play a role in gene regulation. (genenames.org)
  • The BRCA2 gene provides instructions for making a protein that acts as a tumor suppressor. (nih.gov)
  • The PSEN1 gene provides instructions for making a protein called presenilin 1. (nih.gov)
  • The APC gene provides instructions for making the APC protein, which plays a critical role in several cellular processes. (nih.gov)
  • The ATP1A2 gene provides instructions for making one part (the alpha-2 subunit) of a protein known as a Na+/K+ ATPase. (nih.gov)
  • The known ATP1A2 gene mutation associated with this condition replaces a single protein building block (amino acid) in Na+/K+ ATPase: the amino acid threonine is replaced with the amino acid asparagine at protein position 378 (written as Thr378Asn or T378N). (nih.gov)
  • Others prevent the production of any protein from one copy of the ATP1A2 gene in each cell. (nih.gov)
  • tumors
  • 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)
  • found
  • 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)
  • the first homologue of the fly proneural genes to be found in mammals was mash1. (wikipedia.org)
  • Tandemly arrayed genes (TAGs) are a gene cluster created by tandem duplications, a process in which one gene is duplicated and the copy is found adjacent to the original. (wikipedia.org)
  • expression
  • In arthropods, steroid hormones play equal or even more vital developmental roles, especially in controlling the patterns of gene expression between developmental stages. (wikipedia.org)
  • development
  • Caption: Genes control Flowering Development in Plants: Mendelian Genes Define the Commitment to Flowering- Understanding Plant Genes-The Cauliflower Gene-The "fruit-full" gene. (nsf.gov)
  • Proneural genes have multiple functions in neural development. (wikipedia.org)
  • PAX6 (eyeless) is the most researched and appears throughout the literature as a "master control" gene for the development of eyes and sensory organs, certain neural and epidermal tissues as well as other homologous structures, usually derived from ectodermal tissues. (wikipedia.org)
  • single
  • 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)
  • Skinny Genes" was the first single from Eliza Doolittle, Doolittle's debut album. (wikipedia.org)
  • Skinny Genes" was later confirmed as her official debut single and was originally planned for release on 29 March 2010. (wikipedia.org)
  • A planned CD single release for "Skinny Genes" on 12 April 2010 failed to surface. (wikipedia.org)
  • Doolittle explained "Skinny Genes" to BBC Radio's Steve Lamacq: The single is something I made up in my head. (wikipedia.org)
  • Additionally, a single RNA gene may not be able to provide enough RNA, but tandem repeats of the gene allow sufficient RNA to be produced. (wikipedia.org)
  • HUMAN
  • 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)
  • time
  • 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)
  • group
  • Genes Reunited was part of the group that was sold to Brightsolid in 2009. (wikipedia.org)
  • The disembodied gene (Cyp302a1) codes for a cytochrome P450 enzyme that adds a hydroxyl group to the carbon-22 position of 2,22,dE-ketotriol to make 2-deoxyecdysone. (wikipedia.org)
  • The shade gene (Cyp314a1) codes for a P450 enzyme responsible for adding a hydroxyl group to the 20C-position of ecdysone to make 20-hydroxyecdysone, the final step in the biosynthetic pathway. (wikipedia.org)
  • common
  • Firstly, the same genes that influence common learning abilities (e.g., high reading aptitude) are also responsible for common learning disabilities (e.g., reading disability): they are strongly genetically correlated. (wikipedia.org)
  • known
  • Genes Reunited, originally known as Genes Connected, is a genealogy website that was launched in the UK in 2003 as a sister-site to Friends Reunited. (wikipedia.org)
  • immune
  • Vaccination with irradiated granulocyte-macrophage colony-stimulating factor (GM-CSF)-secreting gene-transduced cancer vaccines induces tumoricidal immune responses. (aacrjournals.org)
  • season
  • The show last aired on 11 November 2015 and ended with 26 episodes and Genes (season 2) started from Saturday 18 November 2015 at 8PM IST with new anchor Roja.This show is remake of Genes which is aired on ETV Telugu. (wikipedia.org)
  • album
  • Genes, from 2003, is the first album released by Dave Couse since the breakup of A House in 1997. (wikipedia.org)
  • However, as the first move in a solo career, whose next step, the album The World Should Know, would be nominated for a couple of Meteor Awards, Genes was significant to Couse and to fans of A House who had been waiting to hear from him since 1997. (wikipedia.org)
  • Skinny Genes" was one of three tracks where Doolittle had worked with Prime and Woodcock for her debut album. (wikipedia.org)
  • Blue Genes is an album by The Three Sounds recorded for the Verve label in late 1962. (wikipedia.org)
  • multiple
  • In order to provide the necessary ribosomes, multiple RNA polymerases must consecutively transcribe multiple rRNA genes. (wikipedia.org)
  • represent
  • This is a list of recommended housekeeping genes that may be used for reference purposes: The following represent genes that should probably not be used for reference purposes:GUSB,RPLP0, and TFRC.GAPDH, HSP90, and β-actin. (wikipedia.org)
  • function
  • Proneural genes may function in analogous fashions in vertebrates and invertebrates, specifically they were implicated in early neurogenesis. (wikipedia.org)
  • develop
  • However, not everyone who inherits a mutation in the BRCA2 gene will develop cancer. (nih.gov)
  • conditions
  • Although some housekeeping genes (such as LDHA, NONO, PGK1, PPIH,) are expressed at relatively constant levels in most non-pathological situations, other housekeeping genes may vary depending on experimental conditions. (wikipedia.org)
  • Book
  • Evil Genes is a book by Barbara Oakley, a systems engineer, about the neurological and social factors contributing to chronic antisocial behavior. (wikipedia.org)
  • promote
  • Proneural genes promote neurogenesis and inhibit gliogenesis but some neurogenic factors can regulate both of these processes, depending on the proneural genes concentration. (wikipedia.org)
  • influence
  • Secondly, many of the genes associated with one aspect of a learning disability (e.g., vocabulary problems) also influence other aspects of this learning disability (e.g., grammar problems). (wikipedia.org)
  • Thirdly, genes that influence one learning disability (e.g., reading disability) are largely the same as those that influence other learning disabilities (e.g., mathematics disability). (wikipedia.org)
  • important
  • The Generalist Genes Hypothesis has important implications for education, cognitive sciences and molecular genetics. (wikipedia.org)
  • originally
  • citation needed] Steve and Julie Pankhurst, the creators of Friends Reunited originally formed Genes Connected in 2003 as a sister-site to Friends Reunited, It was later rebranded as Genes Reunited and was sold to ITV in 2005. (wikipedia.org)
  • cell
  • This singling out process is mediated by cell-cell interactions interpreted through the action of neurogenic genes. (wikipedia.org)
  • Neural bHLH genes have different functions depending on: the sensitivity to lateral inhibition, which determines if a cell becomes epidermal or neuronal, and whether the gene is expressed in the CNS before or after the terminal mitosis. (wikipedia.org)
  • activity
  • Because heterodimerization is a prerequisite for DNA binding, factors that interfere with dimerization effectively act as passive repressors of proneural gene activity. (wikipedia.org)
  • loss
  • The song that Couse didn't write is John Cale's "(I Keep a) Close Watch" (listed as "Close Watch" on Genes), which addresses the fear of loss associated with love. (wikipedia.org)