GAIN OF FUNCTION ANKH VARIANTS CAUSE BOTH FAMILIAL AND SPORADIC CALCIUM PYROPHOSPHATE DIHYDRATE CHONDROCALCINOSIS
Main Authors: | Zhang, Y, Johnson, K, Russell, G, Wordsworth, B, Carr, A, Terkeltaub, R, Brown, M |
---|---|
Format: | Journal article |
Published: |
2004
|
Similar Items
-
ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.
by: Zhang, Y, et al.
Published: (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.
by: Zhang, Y, et al.
Published: (2005) -
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
by: Williams, C, et al.
Published: (2002) -
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH.
by: Williams, C, et al.
Published: (2002) -
Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout).
by: Russell, R, et al.
Published: (1970)