Protein

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

• PLK1
  6 November 2010

  WKP
  Definition: Serine/threonine-protein kinase PLK1, also known as polo-like kinase 1 (PLK-1) or serine/threonine-protein kinase 13 (STPK13), is an enzyme that in humans is encoded by the PLK1 (polo-like kinase 1) gene.
  Polo-like kinase 1 (PLK1) is an essential protein in communicating cell-cycle progression and DNA damage. Polo-like kinase 1 (PLK1) is a multi-functional protein and its aberrant expression is a driver of cancerous transformation and progression.
  Upstream regulation of (...)

• CACNA1S
  6 September 2005

  Pathology
  germline mutations in hypokalemic periodic paralysis (MIM.170400) malignant hyperthermia susceptibility locus MHS5 (MIM.601887) thyrotoxic periodic paralysis (MIM.188580)

• TNFSF10
  30 August 2005

  TRAIL, TNF-related apoptosis-inducing ligand, APO2 ligand, APO2L, TNF ligand superfamily member 10

• OXE receptor
  29 August 2005

  The eicosanoid 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-oxo-ETE) has recently been identified as the ligand for the oxoeicosanoid (OXE) receptor.
  Pathology
  asthma In vitro and in vivo studies have suggested that 5-oxo-ETE has a role in the asthmatic inflammatory response and it has been shown to stimulate eosinophil migration to the airways.
  References
  Jones CE. The OXE receptor: a new therapeutic approach for asthma? Trends Mol Med. 2005 Jun;11(6):266-70. PMID: (...)

• PBEF1
  29 August 2005

  visfatin, pre-B-cell colony-enhancing factor 1, PBEF

• NUDT1
  30 August 2005

  MTH1, nudix motif 1, MutT homolg 1, 8-@oxo-7,8-dihydroguanosine triphosphate

• CYP2E1
  30 August 2005

  References
  Kessova I, Cederbaum AI. CYP2E1: biochemistry, toxicology, regulation and function in ethanol-induced liver injury. Curr Mol Med. 2003 Sep;3(6):509-18. PMID: #14527082#

• APOD
  30 August 2005

  References
  Thomas EA, Copolov DL, Sutcliffe JG. From pharmacotherapy to pathophysiology: emerging mechanisms of apolipoprotein D in psychiatric disorders. Curr Mol Med. 2003 Aug;3(5):408-18. PMID: #12942994#

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