GAIN OF FUNCTION ANKH VARIANTS CAUSE BOTH FAMILIAL AND SPORADIC CALCIUM PYROPHOSPHATE DIHYDRATE CHONDROCALCINOSIS

Eitemau Tebyg

• ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.
  gan: Zhang, Y, et al.
  Cyhoeddwyd: (2004)
• Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate.
  gan: Zhang, Y, et al.
  Cyhoeddwyd: (2005)
• Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
  gan: Williams, C, et al.
  Cyhoeddwyd: (2002)
• Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH.
  gan: Williams, C, et al.
  Cyhoeddwyd: (2002)
• Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout).
  gan: Russell, R, et al.
  Cyhoeddwyd: (1970)