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  • Locus
  • For example, breakage at or near the FRA11b locus has been implicated in Jacobsen syndrome, which is characterized by loss of part of the long arm of chromosome 11 accompanied by mild mental retardation. (wikipedia.org)
  • 8q24.1
  • EXT1 which maps to chromosome 8q24.1 EXT2 which maps to 11p13 EXT3 which maps to the short arm of Chromosome 19 (though its exact location has yet to be precisely determined) Mutations in these genes typically lead to the synthesis of a truncated EXT protein which does not function normally. (wikipedia.org)
  • subunit
  • Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2 ), a medium adaptin (mu-type subunit AP3M1 or AP3M2 ) and a small adaptin (sigma-type subunit APS1 or AP3S2 ) (By similarity). (rcsb.org)
  • vitro
  • Hemopexin, an acute phase protein, can downregulate the angiotensin (ang) II type 1 receptor (AT1-R) in vitro. (wikipedia.org)
  • cell
  • In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. (rcsb.org)
  • The physical role of the centromere is to act as the site of assembly of the kinetochores - a highly complex multiprotein structure that is responsible for the actual events of chromosome segregation - i.e. binding microtubules and signalling to the cell cycle machinery when all chromosomes have adopted correct attachments to the spindle, so that it is safe for cell division to proceed to completion and for cells to enter anaphase. (wikipedia.org)
  • In these people, the ring chromosome may change the activity of certain genes on chromosome 20, or it may be unable to copy (replicate) itself normally during cell division. (nih.gov)
  • These include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 20p or 20q) or a missing segment of the short or long arm of the chromosome in each cell (partial monosomy 20p or 20q). (nih.gov)
  • A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress. (wikipedia.org)
  • genetic
  • Cytogenetics is the study of the genetic material in cells at the light microscopic level, with the goal of achieving optimal resolution for chromosomes or regions of chromosomes on a macrolevel. (els.net)
  • Conventional cytogenetic techniques apply to the examination of metaphase chromosomes and provide a survey of the global integrity of genetic material in proliferating cells. (els.net)
  • Deletions or duplications of genetic material from chromosome 20 can have a variety of effects, including intellectual disability, delayed development, distinctive facial features, skeletal abnormalities, and heart defects. (nih.gov)
  • Animal and human genetic evidence suggests they may also have an important role in atherosclerosis, myocardial infarction, and stroke. (wikipedia.org)
  • structure
  • Catalyzes the formation of the GlcNAcbeta1-4 branch on the GlcNAcbeta1-2Manalpha1-3 arm of the core structure of N-linked glycans. (uniprot.org)
  • Hammer MF, Chamberlain VF, Kearney VF, Stover D, Zhang G, Karafet T, Walsh B, Redd AJ (2005) Population structure of Y chromosome SNP haplogroups in the United States and forensic implications for constructing Y chromosome STR databases. (springer.com)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 20. (nih.gov)
  • A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. (nih.gov)
  • Several different changes in the structure of chromosome 20 have been reported. (nih.gov)
  • Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a population. (wikipedia.org)
  • While CFSs could be a result of higher-order chromosome structure, the conservation throughout species could also indicate that they may have some conserved biological purpose. (wikipedia.org)
  • AKR1D1 is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones which carry a delta (4)-3-one structure. (creativebiomart.net)
  • 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)
  • Shaffer LG and Tommerup N (eds) ISCN (2005) An International System for Human Cytogenetic Nomenclature. (els.net)
  • mitotic
  • It is now believed that this complex is mostly released from chromosome arms during prophase, so that by the time the chromosomes line up at the mid-plane of the mitotic spindle (also known as the metaphase plate), the last place where they are linked with one another is in the chromatin in and around the centromere. (wikipedia.org)