Literature DB >> 8528213

Localisation of a gene for chondrocalcinosis to chromosome 5p.

A E Hughes1, D McGibbon, E Woodward, J Dixey, M Doherty.   

Abstract

Chondrocalcinosis is a common disorder which may associate with acute and chronic arthritis. A familial form, inherited as an autosomal dominant trait, has been mapped in a large family in which affected members also suffer recurrent fits in childhood. The gene which causes this disease shows linkage with several polymorphic markers on chromosome 5p with a maximum multipoint lod score of 4.6 between D5S810 and D5S416. Mapping a locus for chondrocalcinosis will allow the heterogeneity of the disorder to be assessed and may also be relevant to understanding the aetiology of osteoarthritis with which it commonly associates.

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Year:  1995        PMID: 8528213     DOI: 10.1093/hmg/4.7.1225

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  14 in total

Review 1.  Clinical trials review: crystal deposition diseases.

Authors:  R A Terkeltaub
Journal:  Curr Rheumatol Rep       Date:  1999-12       Impact factor: 4.592

Review 2.  Familial and clinical aspects of calcium pyrophosphate deposition disease.

Authors:  A J Reginato; E Tamesis; P Netter
Journal:  Curr Rheumatol Rep       Date:  1999-12       Impact factor: 4.592

3.  Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.

Authors:  L J Andrew; V Brancolini; L S de la Pena; M Devoto; F Caeiro; R Marchegiani; A Reginato; A Gaucher; P Netter; P Gillet; D Loeuille; D J Prockop; A Carr; B F Wordsworth; M Lathrop; S Butcher; E Considine; K Everts; A Nicod; S Walsh; C J Williams
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

4.  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

5.  Mutations in osteoprotegerin account for the CCAL1 locus in calcium pyrophosphate deposition disease.

Authors:  C J Williams; U Qazi; M Bernstein; A Charniak; C Gohr; E Mitton-Fitzgerald; A Ortiz; L Cardinal; A T Kaell; A K Rosenthal
Journal:  Osteoarthritis Cartilage       Date:  2018-03-22       Impact factor: 6.576

6.  Mutations in ANKH cause chondrocalcinosis.

Authors:  Adrian Pendleton; Michelle D Johnson; Anne Hughes; Kyle A Gurley; Andrew M Ho; Michael Doherty; Josh Dixey; Pierre Gillet; Damien Loeuille; Rodney McGrath; Antonio Reginato; Rita Shiang; Gary Wright; Patrick Netter; Charlene Williams; David M Kingsley
Journal:  Am J Hum Genet       Date:  2002-09-20       Impact factor: 11.025

7.  NLRP3 inflammasome plays a critical role in the pathogenesis of hydroxyapatite-associated arthropathy.

Authors:  Chengcheng Jin; Patrick Frayssinet; Richard Pelker; Diane Cwirka; Bo Hu; Agnès Vignery; Stephanie C Eisenbarth; Richard A Flavell
Journal:  Proc Natl Acad Sci U S A       Date:  2011-08-19       Impact factor: 11.205

Review 8.  Pathophysiology of articular chondrocalcinosis--role of ANKH.

Authors:  Abhishek Abhishek; Michael Doherty
Journal:  Nat Rev Rheumatol       Date:  2010-11-23       Impact factor: 20.543

Review 9.  [Crystal-induced arthropathies].

Authors:  J Zustin; M Fürst; G Sauter; W Rüther
Journal:  Z Rheumatol       Date:  2008-02       Impact factor: 1.372

Review 10.  Calcium pyrophosphate dihydrate and hydroxyapatite crystal deposition in the joint: new developments relevant to the clinician.

Authors:  Salih Pay; Robert Terkeltaub
Journal:  Curr Rheumatol Rep       Date:  2003-06       Impact factor: 4.592

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