Literature DB >> 12297989

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

Charlene J Williams1, Yun Zhang, Andrew Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, Yvonne Jones, Raul Marchegiani, Antonio Reginato, R Graham G Russell, B Paul Wordsworth, Andrew J Carr, Matthew A Brown.   

Abstract

Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5p15. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.

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Year:  2002        PMID： 12297989      PMCID： PMC419998          DOI： 10.1086/343053

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  11 in total

Review 1.  Genetic studies of disorders of calcium crystal deposition.

Authors:  A E Timms; Y Zhang; R G G Russell; M A Brown
Journal:  Rheumatology (Oxford)       Date:  2002-07       Impact factor: 7.580

2.  Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Authors:  E Reichenberger; V Tiziani; S Watanabe; L Park; Y Ueki; C Santanna; S T Baur; R Shiang; D K Grange; P Beighton; J Gardner; H Hamersma; S Sellars; R Ramesar; A C Lidral; A Sommer; C M Raposo do Amaral; R J Gorlin; J B Mulliken; B R Olsen
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3.  Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

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Journal:  Nat Genet       Date:  2001-05       Impact factor: 38.330

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Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

5.  Association between synovial fluid levels of inorganic pyrophosphate and short term radiographic outcome of knee osteoarthritis.

Authors:  M Doherty; C Belcher; M Regan; A Jones; J Ledingham
Journal:  Ann Rheum Dis       Date:  1996-07       Impact factor: 19.103

6.  The prevalence of chondrocalcinosis in the elderly and its association with knee osteoarthritis: the Framingham Study.

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Journal:  J Rheumatol       Date:  1989-09       Impact factor: 4.666

7.  Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout).

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8.  Role of the mouse ank gene in control of tissue calcification and arthritis.

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Journal:  Science       Date:  2000-07-14       Impact factor: 47.728

9.  Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q.

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Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

10.  The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance.

Authors:  J R O'Connell; D E Weeks
Journal:  Nat Genet       Date:  1995-12       Impact factor: 38.330
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  36 in total

Review 1.  [Crystal arthropathies].

Authors:  M Fuerst; J Zustin; W Rüther
Journal:  Pathologe       Date:  2011-05       Impact factor: 1.011

2.  Relative risk of knee chondrocalcinosis in siblings of index cases with pyrophosphate arthropathy.

Authors:  W Zhang; R Neame; S Doherty; M Doherty
Journal:  Ann Rheum Dis       Date:  2004-08       Impact factor: 19.103

3.  Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.

Authors:  Barry L Gruber; Ana Rita Couto; Jácome Bruges Armas; Matthew A Brown; Kathleen Finzel; Robert A Terkeltaub
Journal:  J Clin Rheumatol       Date:  2012-06       Impact factor: 3.517

4.  Telomerase transduced osteoarthritis fibroblast-like synoviocytes display a distinct gene expression profile.

Authors:  Yubo Sun; David R Mauerhan; Gary S Firestein; Bryan J Loeffler; Edward N Hanley; Helen E Gruber
Journal:  J Rheumatol       Date:  2009-01       Impact factor: 4.666

5.  Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.

Authors:  Ana Rita Couto; Yun Zhang; Andrew Timms; Jacome Bruges-Armas; Jorge Sequeiros; Matthew A Brown
Journal:  Rheumatol Int       Date:  2011-08-03       Impact factor: 2.631

Review 6.  Inflammation: a culprit for vascular calcification in atherosclerosis and diabetes.

Authors:  L Bessueille; D Magne
Journal:  Cell Mol Life Sci       Date:  2015-03-08       Impact factor: 9.261

Review 7.  [Crystal arthropathies].

Authors:  M Fuerst; J Haybaeck; J Zustin; W Rüther
Journal:  Orthopade       Date:  2009-06       Impact factor: 1.087

8.  [Crystal-induced activation of the inflammasome: gout and pseudogout].

Authors:  M Winzer; A-K Tausche; M Aringer
Journal:  Z Rheumatol       Date:  2009-11       Impact factor: 1.372

Review 9.  Calcium pyrophosphate dihydrate and basic calcium phosphate crystal-induced arthropathies: update on pathogenesis, clinical features, and therapy.

Authors:  Hang-Korng Ea; Frédéric Lioté
Journal:  Curr Rheumatol Rep       Date:  2004-06       Impact factor: 4.592

10.  Investigation of calcium crystals in OA knees.

Authors:  Martin Fuerst; L Lammers; F Schäfer; O Niggemeyer; J Steinhagen; C H Lohmann; W Rüther
Journal:  Rheumatol Int       Date:  2009-07-29       Impact factor: 2.631
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