Mutated in human diseases

Articles

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• 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, (...)

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• KCNQ3
  23 April 2008

  Pathology
  benign neonatal epilepsy 2 (EBN2) (MIM.121201) is caused by mutation in the KCNQ3 gene (MIM.602232) on chromosome 8q24.

• Aβ
  14 January 2008

  A beta, beta-amyloid peptide

• LMX1B
  14 April 2005

  LIM-homeodomain protein
  Pathology
  germline mutations in LMX1B in nail-patella syndrome (MIM.161200)
  See also
  transcription factors LMXs

• 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 (...)

• 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: (...)

• HOXA13
  20 June 2005

  Pathology
  triphalangeal thumb-brachyectrodactyly syndrome (#12382951#)
  hand-foot-genital syndrome
  polyalanine repeat expansion
  HOXA genes in T-cell acute lymphoblastic leukemia (T-ALL)
  HOXA13 rearrangement and surexpression in T-cell acute lymphoblastic leukemia (T-ALL) (#16804919#)
  See also
  polyalanine repeat expansions
  References
  Su X, Drabkin H, Clappier E, Morgado E, Busson M, Romana S, Soulier J, Berger R, Bernard OA, Lavau C. Transforming potential of the T-cell acute (...)

• MYH9
  22 August 2004

  Pathology
  germline mutations germline mutation in the May-Hegglin anomaly (MIM.155100) May-Hegglin anomaly is an autosomal dominant disorder characterized by thrombocytopenia, giant platelets with few granules, and light blue inclusions peripherally located in the cytoplasm of granulocytes. The mutation is in the gene encoding non-muscle myosin heavy chain IIA (MYH9 ). germline mutation in the Sebastian syndrome (MIM.605249) germline mutation in the Fechtner syndrome (MIM.153640) (...)

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