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  • Homo
  • http://www.ensembl.org/Homo_sapiens/Transcript/Summary?db=vega;g=OTTHUMG00000170426;r=14:105491268-105499209;t=OTTHUMT00000074613 https://www.ncbi.nlm.nih.gov/nuccore/NM_001134875.1 http://bgee.unil.ch/bgee/bgee?page=gene&action=summary&gene_id=ENSG00000185347 https://www.ncbi.nlm.nih.gov/geoprofiles http://www.genecards.org/cgi-bin/carddisp.pl?gene=C14orf80 Altschul, S.F. (wikipedia.org)
  • cytogenetic
  • International Standing Committee on Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • The chromosome 14 inversion produces cytogenetic breakpoints at either end of the long arm of this chromosome. (ox.ac.uk)
  • Translocations
  • Translocations of genetic material between chromosome 14 and other chromosomes have been associated with several types of cancer. (nih.gov)
  • A feature of chromosomes that are commonly found to undergo such translocations is that they possess an acrocentric centromere, partitioning the chromosome into a large arm containing the vast majority of its genes, and a short arm with a much smaller proportion of genetic content. (wikipedia.org)
  • The most frequent forms of Robertsonian translocations are between chromosomes 13 and 14, 14 and 21, and 14 and 15, and occur when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. (wikipedia.org)
  • Common Robertsonian translocations are confined to the acrocentric chromosomes 13, 14, 15, 21 and 22, because the short arms of these chromosomes encode for rRNA which is present in multiple copies. (wikipedia.org)
  • The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. (wikipedia.org)
  • amino
  • and mouse, rat, and rabbit rodent orthologs of human ALOX15, which share 74-81% amino acid identity with the human enzyme, are commonly termed Alox15, 12/15-lipoxygenase, 12/15-LOX, or 12/15-LO). (wikipedia.org)
  • A proline-rich region was also revealed at 14-65 amino acids. (wikipedia.org)
  • The enzyme weighs 14 kDa and is composed of 129 amino acids. (wikipedia.org)
  • Lymphoma
  • The mechanism of chromosome 14 inversion in a human T cell lymphoma. (ox.ac.uk)
  • Previous studies have shown that a hybrid gene (designated IgT) consisting of an immunoglobulin VH gene segment and T cell receptor J alpha C alpha segments encompasses the telomeric breakpoint in SUP-T1, a cell line derived from a human T cell lymphoma. (ox.ac.uk)
  • genetics
  • Human Molecular Genetics. (wikipedia.org)
  • In human genetics we focus on Mendelian inheritance and molecular genetics as those subjects impact the phenotypic traits and medical health of human beings. (wikipremed.com)
  • Human genetics encompasses all of the other topics of genetics and molecular biology. (wikipremed.com)
  • Know how to apply Mendelian concepts to human genetics including interpreting a pedigree chart for patterns of inheritance as well as sex-linked traits. (wikipremed.com)
  • Review the basic terms for human genetics using the question server . (wikipremed.com)
  • American Journal of Human Genetics. (wikipedia.org)
  • syndrome
  • The loss of these genes is likely responsible for several of the major features of ring chromosome 14 syndrome, including intellectual disability and delayed development. (nih.gov)
  • Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. (wikipremed.com)
  • Klinefelter's syndrome or XXY syndrome is a condition caused by a chromosome aneuploidy in which affected males have an extra X sex chromosome. (wikipremed.com)
  • XYY syndrome is an aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome. (wikipremed.com)
  • Mutations in the human gene may contribute to the condition of Klippel-Feil syndrome, which is the failure of the vertebrae to segment near the top of the spine and possibly further down with symptoms including a short, immovable neck and a low hairline on the back of the head. (wikipedia.org)