ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.

Míreanna comhchosúla

• GAIN OF FUNCTION ANKH VARIANTS CAUSE BOTH FAMILIAL AND SPORADIC CALCIUM PYROPHOSPHATE DIHYDRATE CHONDROCALCINOSIS
  de réir: Zhang, Y, et al.
  Foilsithe / Cruthaithe: (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.
  de réir: Zhang, Y, et al.
  Foilsithe / Cruthaithe: (2005)
• Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
  de réir: Williams, C, et al.
  Foilsithe / Cruthaithe: (2002)
• Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH.
  de réir: Williams, C, et al.
  Foilsithe / Cruthaithe: (2002)
• THE ROLE OF ANKH IN ANKYLOSING SPONDYLITIS
  de réir: Timms, A, et al.
  Foilsithe / Cruthaithe: (2003)