Protein

Articles

• ETV6
  3 June 2004

  TEL (translocation ets leukemia)

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• HOXA1
  6 October 2005

  This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.
  Pathology
  germline mutations in Bosley-Salih-Alorainy syndrome (BSAS) (MIM.601536) Athabaskan brainstem dysgenesis syndrome (MIM.601536)
  homozygous truncating mutations in HOXA1 result in phenotype including horizontal gaze abnormalities, deafness, (...)

• Aβ
  14 January 2008

  A beta, beta-amyloid peptide

• CD10
  28 June 2004

  MME, calla, membrane metalloendopeptidase, neprilysin; Common Acute Lymphoblastic Leukemia Antigen (CALLA), neutral endopeptidase 24.11, neprilysin, enkephalinase WKP PathologyOutlines HGNC PO
  See also: MME
  Definition: Cell membrane metallopeptidase expressed by early B, pro-B and pre-B lymphocytes, and by lymph node germinal centers.
  CD10 is widely distributed in normal tissue, including brush border of small bowel mucosa.
  CD10 is also expressed in neoplasms (epithelial cells and (...)

• HIF1A
  8 May 2005

  HIF-1

• HSP70
  4 December 2003

  hsp-70, hsp70

• BRCA1
  29 September 2003

  Wikipedia
  Definition: BRCA1 is a tumor suppressor that functions in controlling cell growth and maintaining genomic stability. The breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc-finger protein of unknown function.
  BRCA1 is a tumour suppressor that has important roles in the protection against genomic instability.
  Cells lacking BRCA1 are hypersensitive to many DNA-damaging agents such as ultraviolet light and ionizing radiation, and show defects in both S- and (...)

• COL1A1
  21 May 2004

  Definition: COL1A1 (MIM.120150) is also called collagen of skin, tendon and bone COL1A1 (MIM.120150).
  Pathology
  germline COL1A1 mutations in :
  osteogenesis imperfecta type 1 (OI1)
  osteogenesis imperfecta type 2 (OI2s)
  osteogenesis imperfecta type 2A (OI2A)
  osteogenesis imperfecta type 2C (OI2C)
  osteogenesis imperfecta type 2 thin-bone subtype
  osteogenesis imperfecta type 3 (OI3)
  osteogenesis imperfecta type 4 (O4)
  bined osteogenesis imperfecta (MIM.166200) and (...)

• NF1
  14 April 2004

  neurofibromin

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