Mutated in human diseases

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, (...)

• PARK2
  16 December 2003

  parkin, PRKN

• CHEK2
  26 September 2003

  CHK2 is an important multifunctional player in the DNA-damage response signalling pathway. Parallel studies of the human CHEK2 gene have also highlighted its role as a candidate multiorgan tumour susceptibility gene rather than a highly penetrant predisposition gene for Li-Fraumeni syndrome.
  The cell cycle checkpoint kinase CHEK2 is a protein kinase activated in response to DNA damage, is involved in cell cycle arrest. CHEK2 is the upstream regulator of p53 in the DNA-damage-signaling (...)

• 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 (...)

• TTF1
  26 June 2008

  NK2 homeobox 1, NKX2A, BCH, TITF1, thyroid transcription factor 1, TTF-1, TTF1; TTF1, thyroid transcription factor-1, TITF1; thyroid transcription factor-1 TTF-1NKX2-1 ; NKX2-1 WP PO
  Definition: Thyroid transcription factor-1 (TTF-1) is a 38-kd homeodomain containing DNA-binding protein originally identified in follicular cells of the thyroid and subsequently in pneumocytes. TTF-1 is one of the three most important transcription factors for thyroid gland organogenesis.
  Expression in (...)

• DYT1
  29 May 2007

  torsin-A

• MITF
  14 May 2005

  MITF code for a basic helix-loop-helix zipper protein that functions as a homodimeric transcription factor.
  Microphthalmia-associated transcription factor (MITF) acts as a master regulator of melanocyte development, function and survival by modulating various differentiation and cell-cycle progression genes.
  MITF is placed between instructing melanocytes towards terminal differentiation and/or pigmentation and, alternatively, promoting malignant behavior.
  MITF (microphthalmia (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• APC
  20 November 2003

  The APC gene encodes a ubiquitously expressed 300 kDa protein that is frequently mutated in patients suffering from FAP and GS.
  APC is associated with structural components of intracellular junctions, including conductin, and it competes with E-cadherin for binding to specific internal regions of both â- and ã-catenin.
  Like APC, APC2 contains SAMP domains, which are required for conductin binding. Both APC and APC2 regulate the formation of active â-catenin-Tcf complexes.
  Germ line (...)

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 620