• mutations
  • 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)
  • 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
  • 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)
  • The maize P gene encodes a Myb homolog that recognizes the sequence CCT/AACC, in sharp contrast with the C/TAACGG bound by vertebrate Myb proteins. (wikipedia.org)
  • Using the CRISPR-Cas9 system, scientists can do much more than gene editing-they can boost gene transcription or use fluorescent proteins to paint and track a chromosome. (scientificamerican.com)
  • The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. (wikipedia.org)
  • genomic
  • 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)
  • 2017
  • Gene Woodbury is known for his work on Gifted (2017), The Bay (2012) and Full Moon High (1981). (imdb.com)
  • 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)
  • distinct
  • 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)
  • Horses affected by these genes can sometimes be confused with champagnes, but champagnes are genetically distinct. (wikipedia.org)
  • 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)
  • mutation
  • 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)
  • Champagne is a dominant trait, based on a mutation in the SLC36A1 gene. (wikipedia.org)
  • allele
  • The champagne gene is a simple dominant allele responsible for a number of rare horse coat colors. (wikipedia.org)
  • Usage of the term "having a gene" (e.g., "good genes," "hair colour gene") typically refers to containing a different allele of the same, shared gene. (wikipedia.org)
  • family
  • The MTRR gene is associated with a family of electron transferases known as the Ferredoxin-NADP(+) reductase (FNR) family. (wikipedia.org)
  • transcription
  • and with gene-specific transcription factors such as Spi-1/PU.1. (wikipedia.org)
  • Recently, FUS/TLS was also shown to repress the transcription of RNAP III genes and to co-immunoprecipitate with TBP and the TFIIIB complex. (wikipedia.org)
  • genome location
  • Clk dual-specificity kinases at the US National Library of Medicine Medical Subject Headings (MeSH) Human CLK3 genome location and CLK3 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • Human CYLD genome location and CYLD gene details page in the UCSC Genome Browser. (wikipedia.org)
  • Human AAMP genome location and AAMP gene details page in the UCSC Genome Browser. (wikipedia.org)
  • expression
  • 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)
  • 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)
  • 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)
  • refers
  • c-Abl is sometimes used to refer to the version of the gene found within the mammalian genome, while v-Abl refers to the viral gene. (wikipedia.org)
  • cancer
  • Vaccination with irradiated granulocyte-macrophage colony-stimulating factor (GM-CSF)-secreting gene-transduced cancer vaccines induces tumoricidal immune responses. (aacrjournals.org)
  • 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)
  • Genes Chromosomes Cancer. (wikipedia.org)
  • traits
  • The most distinctive traits of horses with the champagne gene are the hazel eyes and pinkish, freckled skin, which are bright blue and bright pink at birth, respectively. (wikipedia.org)
  • Instead, the champagne gene produces traits known as hypomelanism, or dilution. (wikipedia.org)
  • Horses with the champagne gene have a lightened hair coat and specific eye and skin color traits. (wikipedia.org)
  • The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. (wikipedia.org)
  • Most biological traits are under the influence of polygenes (many different genes) as well as gene-environment interactions. (wikipedia.org)
  • location
  • How do geneticists indicate the location of a gene? (nih.gov)
  • Unlike the genes underlying tobiano, dominant white, frame overo spotting and the Leopard complex common to the Appaloosa, the champagne gene does not affect the location of pigment-producing cells in the skin. (wikipedia.org)
  • The exact MTRR gene location was mapped to 5p15.3-p15.2. (wikipedia.org)
  • pathogenesis
  • FUS gene rearrangement has been implicated in the pathogenesis of both myxoid liposarcoma and low grade fibromyxoid sarcoma. (wikipedia.org)