Protein

Articles

• ETV6
  3 June 2004

  TEL (translocation ets leukemia)

• 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

• ILK
  10 May 2005

  ILK is a serine-threonine protein kinase that associates with the cytoplasmic domain of beta integrins and acts as a proximal receptor kinase regulating integrin-mediated signal transduction.
  Integrin-linked kinase (ILK) is a potent intracellular kinase involved in the regulation of multiple proliferation and survival kinases, including protein kinase B/Akt (AKT), glycogen synthase kinase-3β (GSK3β or GSK3B) and extracellular signal-regulated kinases 1 and 2 (ERK1/2 or ERK1).
  The ternary (...)

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• PTCH2
  21 April 2004

  Pathology
  somatic mutations in basal cell carcinoma (MIM.605462)
  somatic mutations in medulloblastoma (MIM.155255)

• PAX5
  11 May 2005

  PAX-5

• ELF4
  17 May 2007

  ETSs superfamily
  Pathology
  ELF4 is fused to ERG in acute myeloid leukemia with a t(X;21)(q25-26;q22) (#16303180#)
  References
  Moore SD, Offor O, Ferry JA, Amrein PC, Morton CC, Dal Cin P. ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). Leuk Res. 2006 Aug;30(8):1037-42. PMID: #16303180#

• CD79A
  19 December 2005

  CD79a
  CD79A encodes the Ig-alpha protein of the B-cell antigen receptor, that also includes Ig-beta protein, surface immunoglobulin.
  Images
  CD79a+ lymphoblastic lymphoma https://twitter.com/ERDENEROZER/status/875061668732166146
  Expression in normal cells
  expressed early in B-cell differentiation (often positive when mature B-cell markers are negative)
  plasma cells
  human thymus and thymoma low-level expression of CD79a is common in thymocytes and thymoma-associated lymphocytes. (...)

• LIM2
  17 October 2003

  Pathology
  mutations the autosomal recessive presenile cataract (#11917274#)

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