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

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• ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.
  von: Zhang, Y, et al.
  Veröffentlicht: (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.
  von: Zhang, Y, et al.
  Veröffentlicht: (2005)
• Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
  von: Williams, C, et al.
  Veröffentlicht: (2002)
• Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH.
  von: Williams, C, et al.
  Veröffentlicht: (2002)
• Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout).
  von: Russell, R, et al.
  Veröffentlicht: (1970)