Mutated in human diseases

Articles

• PABPN1
  11 June 2005

  Pathology
  germline mutations in oculopharyngeal muscular dystrophy (OPMD) (MIM.164300) polyalanine repeat expansion
  See also
  polyalanine repeat expansions

• NALP7
  11 February 2006

  NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation.
  NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family.
  NALPs family
  Most short NALPs, such as NALP7, have an N-terminal pyrin (MEFV) (MIM.608107) domain (PYD), followed by a NACHT (...)

• 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 and urothelial but also for renal and germ cell tumors, (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• ADK
  14 November 2011

  Pathology
  ADK deficiency is a previously undescribed, severe inborn error of metabolism shedding light on a functional link between the methionine cycle and adenosine metabolism. Four inborn errors of metabolism (IEMs) are known to cause hypermethioninemia by directly interfering with the methionine cycle. Hypermethioninemia is occasionally discovered incidentally, but it is often disregarded as an unspecific finding, particularly if liver disease is involved. In many individuals the (...)

• TTR
  5 February 2008

  transthyretin

• TREX1
  16 March 2007

  The multistep processes of DNA replication, repair, and recombination require the excision of nucleotides from DNA 3-prime termini.
  TREX1 constitutes the major 3’—>5’ DNA exonuclease activity measured in mammalian cells. Enzymes containing 3-prime-to-5-prime exonuclease activity, such as TREX1, remove mismatched, modified, fragmented, and normal nucleotides to generate the appropriate 3-prime termini for subsequent steps in the DNA metabolic pathways.
  TREX1 has 2 coiled-coil domains and (...)

• CCND1
  13 April 2004

  cyclin-D1, CYLD1, BCL1
  The proto-oncogene cyclin D1 has been implicated in the genesis of a large proportion of human tumors from diverse histological origins.
  Function
  activator of cdk4 and cdk6 in progression through the G1 phase of the cell cycle
  Pathology
  cyclin D1 overexpression in mantle cell lymphoma
  The cytogenetic and diagnostic hallmark of mantle cell lymphoma (MCL) is translocation t(11;14)(q13;q32), resulting in overexpression of cyclin D1.
  There are rare cyclin (...)

• 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 (...)

• NBS1
  19 August 2004

  Pathology
  germline mutations in the Nijmegen breakage syndrome (NBS)
  increased cancer risk of heterozygotes with NBS1 germline mutations (#15185344#)
  See also
  FANC/BRCA1/BRCA2/ATM/NBS1 signaling pathway
  References
  Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):855-61. PMID: (...)

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