Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH.

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH.

Bibliografiske detaljer
Main Authors:	Williams, C, Zhang, Y, Timms, A, Bonavita, G, Caeiro, F, Broxholme, J, Marchegiani, R, Reginato, A, Russell, R, Wordsworth, B, Carr, A, Brown, M
Format:	Conference item
Udgivet:	2002

Lignende værker

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ank.
af: Williams, C, et al.
Udgivet: (2002)

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
af: Williams, C, et al.
Udgivet: (2002)

ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.
af: Zhang, Y, et al.
Udgivet: (2004)

GAIN OF FUNCTION ANKH VARIANTS CAUSE BOTH FAMILIAL AND SPORADIC CALCIUM PYROPHOSPHATE DIHYDRATE CHONDROCALCINOSIS
af: Zhang, Y, et al.
Udgivet: (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.
af: Zhang, Y, et al.
Udgivet: (2005)

THE ROLE OF ANKH IN ANKYLOSING SPONDYLITIS
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Udgivet: (2003)

Investigation of the role of ANKH in ankylosing spondylitis.
af: Timms, A, et al.
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Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.
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Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout).
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Increased risk of temporomandibular joint closed lock: a case-control study of ANKH polymorphisms.
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miR-17-5p Regulates Heterotopic Ossification by Targeting ANKH in Ankylosing Spondylitis
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