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.

Documenti analoghi

• ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.
  di: Zhang, Y, et al.
  Pubblicazione: (2004)
• GAIN OF FUNCTION ANKH VARIANTS CAUSE BOTH FAMILIAL AND SPORADIC CALCIUM PYROPHOSPHATE DIHYDRATE CHONDROCALCINOSIS
  di: Zhang, Y, et al.
  Pubblicazione: (2004)
• THE ROLE OF ANKH IN ANKYLOSING SPONDYLITIS
  di: Timms, A, et al.
  Pubblicazione: (2003)
• Investigation of the role of ANKH in ankylosing spondylitis.
  di: Timms, A, et al.
  Pubblicazione: (2003)
• Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
  di: Williams, C, et al.
  Pubblicazione: (2002)