Protein

Articles

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• 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, (...)

• 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.

• CD99
  11 February 2004

  MIC2, E antigen, MSK5X, O13

• Aβ
  14 January 2008

  A beta, beta-amyloid peptide

• GLI1
  28 June 2004

  Ci, Cubitus interruptus homolog GLI1, glioma-associated oncogen homolog GLI, GLI
  Definition: GLI is a Zinc Finger transcription factor that is the transcription factor of the Hedgehog signaling pathway.
  Gli code hypothesis (#17845852#)
  The Gli code hypothesis postulates that the three vertebrate Gli transcription factors act together in responding cells to integrate intercellular Hedgehog (Hh) and other signaling inputs, resulting in the regulation of tissue pattern, size and shape.
  Hh (...)

• EGLN1
  21 November 2011

  PHD2

• LMX1B
  14 April 2005

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

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 1590