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, (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• MAPT
  17 October 2003

  tau protein, TAU
  Definition: Tau or MAPT is a microtubule-associated protein (MAPs) expressed in neurons that stabilizes microtubules in the axon. Six isoforms, containing either three or four microtubule-binding domains (3R or 4R tau), are expressed in the adult human brain.
  Images
  globose tangles in progressive supranuclear palsy (PSP) case (substantia nigra ). Immunohistochemistry by tau protein antibody. https://twitter.com/Meggenwalsh/status/766989000150253568
  The (...)

• ZFHX1B
  6 October 2003

  Smad-intercating protein 1; SMADIP1; SIP1; zinc finger homeo box 1B

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• SOX10
  9 June 2003

  Location: 22q13. SRY-BOX 10, SRY-RELATED HMG-BOX GENE 10; SRY-related HMG-box 10 (SOX10) protein PO
  Definition: SOX10 is a transcription factor known to be crucial in the specification of the neural crest and maintenance of Schwann cells and melanocytes. It is expressed in nuclei of melanocytes and breast myoepithelial cells .
  Images
  SOX10 in melanoma https://twitter.com/LisaRooperMD/status/968862378799632385
  SOX-10 NEGATIVE in basal cell carcinoma / BCC. The few positive cells (...)

• ATM
  28 October 2003

  ataxia-telangiectasia mutated

• SLC2A1
  9 June 2003

  GLUT1

• RAB27A
  14 October 2003

  RAB27A codes for a small GTPase.
  Pathology
  germline RAB27A mutations in Griscelli disease (#12058346#)
  References
  Hong W. Cytotoxic T lymphocyte exocytosis: bring on the SNAREs! Trends Cell Biol. 2005 Dec;15(12):644-50. PMID: #16260137#

• ABCB4
  4 June 2003

  Canalicular phospholipid transporter ABCB4, MDR3

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