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.

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.

OBJECTIVE: Certain mutations in ANKH, which encodes a multiple-pass transmembrane protein that regulates inorganic pyrophosphate (PPi) transport, are linked to autosomal-dominant familial chondrocalcinosis. This study investigated the potential for ANKH sequence variants to promote sporadic chondro...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Zhang, Y, Johnson, K, Russell, R, Wordsworth, B, Carr, A, Terkeltaub, R, Brown, M
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2005

समान संसाधन

ANKH mutations cause both familial and sporadic calcium pyrophosphate dihydrate chondrocalcinosis and increase ANKH transcription/2 translation.
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GAIN OF FUNCTION ANKH VARIANTS CAUSE BOTH FAMILIAL AND SPORADIC CALCIUM PYROPHOSPHATE DIHYDRATE CHONDROCALCINOSIS
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THE ROLE OF ANKH IN ANKYLOSING SPONDYLITIS
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Investigation of the role of ANKH in ankylosing spondylitis.
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Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
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प्रकाशित: (2002)

Association of 4-basepair G-to-A transition in the 5′-untranslated region of ANKH gene with selected patients of primary knee osteoarthritis: A cross sectional study
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Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout).
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Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts
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Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1
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प्रकाशित: (1976)

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द्वारा: Timms, A, और अन्य
प्रकाशित: (2002)

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प्रकाशित: (2007)

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Sequence-based GWAS and post-GWAS analyses reveal a key role of SLC37A1, ANKH, and regulatory regions on bovine milk mineral content
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प्रकाशित: (2021-04-01)

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Tissue-targeted inorganic pyrophosphate hydrolysis in a fugu5 mutant reveals that excess inorganic pyrophosphate triggers developmental defects in a cell-autonomous manner
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Synovial Membrane Is a Major Producer of Extracellular Inorganic Pyrophosphate in Response to Hypoxia
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