Mutated in human diseases

Articles

• 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

• huntingtin
  16 July 2003

  Huntingtin acts on the transcription of brain-derived neurotrophic factor (BDNF) and of many other neuronal genes and on BDNF transport.
  Wild-type huntingtin sequesters Repressor element 1 (RE1)-silencing transcription factor (REST, also known as neuronal restrictive silencing factor, NRSF) in the cytoplasm in such a way that the co-repressor complex does not form at the RE1 (also known as the neuron-restrictive silencer element, NRSE) sites and the BDNF gene is transcribed.
  The asterisk (...)

• SLITRK1
  6 February 2006

  SLITRK1 is an integral membrane protein with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLITs proteins, like SLIT2.
  SLITRK1 was associated with abnormal axonal-dendritic development in embryonic mouse cells.
  Pathology
  SLITRK1 mutations in Tourette syndrome (MIM.137580) Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by impairing motor-vocal tics. SLITRK1 is not a major causal gene for GTS.
  See also SLITRKs SLITRK2 SLITRK3 (...)

• FLNC
  6 June 2005

  filamin-C

• CCM2
  20 December 2007

  MGC4067

• LMNA
  13 July 2003

  lamin-A/C, lamin-A, lamin-C, lamin A, lamin C

• ABCB11
  4 June 2003

  Canalicular bile acide transporte ABCB11, BSEP
  Anomalies
  BSEP/ABCB11 germline mutations in
  progressive familial intrahepatic cholestasis type 2 (PFIC2) (MIM.601847)
  benign recurrent intrahepatic cholestasis type 2 (BRIC2) (MIM.605479)
  Benign recurrent intrahepatic cholestasis (BRIC) is characterized by intermittent episodes of cholestasis without progression to liver failure.
  The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, (...)

• ABCB4
  4 June 2003

  Canalicular phospholipid transporter ABCB4, MDR3

• JAG1
  11 June 2003

  jagged1

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