Protein

Articles

• 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, (...)

• PTK2
  30 January 2005

  FAK,FAK1, focal adhesion kinase

• MDM2
  29 October 2003

  mouse double minute 2 homolog, p53 binding protein, HDM2

• GATA3
  24 May 2005

  GATA-3
  PO
  Definition: GATA3 is a zinc-finger transcription factor (ZFNs), which is expressed in various normal and neoplastic tissues.
  GATA3 is a transcription factor important in the differentiation of breast epithelia, urothelia, and subsets of T-lymphocytes.
  It has been suggested useful in the evaluation of mammary or urothelial origin or metastatic carcinomas. GATA3 is a useful marker in characterization not only mammary carcinomas and urothelial carcinoma but also for renal tumors (...)

• TOP3
  19 November 2003

  topoisomerase III

• NOTCH1
  11 June 2003

  Notch1

• FOXO3A
  7 October 2005

  FKHRL1, AF6q21

• ATM
  28 October 2003

  ataxia-telangiectasia mutated

• EGLN1
  21 November 2011

  PHD2

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