Literature DB >> 14729835

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.

G C Jackson, F S Barker, E Jakkula, M Czarny-Ratajczak, O Mäkitie, W G Cole, M J Wright, S F Smithson, M Suri, P Rogala, G R Mortier, C Baldock, A Wallace, R Elles, L Ala-Kokko, M D Briggs.   

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Year:  2004        PMID： 14729835      PMCID： PMC1757268          DOI： 10.1136/jmg.2003.011429

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  31 in total

1.  Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand.

Authors:  J L Min; I Meulenbelt; N Riyazi; M Kloppenburg; J J Houwing-Duistermaat; A B Seymour; C M van Duijn; P E Slagboom
Journal:  Ann Rheum Dis       Date:  2006-01-05       Impact factor: 19.103

2.  Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.

Authors:  Thomas M Merritt; Roger Bick; Brian J Poindexter; Joseph L Alcorn; Jacqueline T Hecht
Journal:  Am J Pathol       Date:  2007-01       Impact factor: 4.307

3.  Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.

Authors:  Maryline Fresquet; Thomas A Jowitt; Joni Ylöstalo; Paul Coffey; Roger S Meadows; Leena Ala-Kokko; David J Thornton; Michael D Briggs
Journal:  J Biol Chem       Date:  2007-09-18       Impact factor: 5.157

4.  Functional knockout of the matrilin-3 gene causes premature chondrocyte maturation to hypertrophy and increases bone mineral density and osteoarthritis.

Authors:  Louise van der Weyden; Lei Wei; Junming Luo; Xu Yang; David E Birk; David J Adams; Allan Bradley; Qian Chen
Journal:  Am J Pathol       Date:  2006-08       Impact factor: 4.307

5.  MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.

Authors:  L G Shyamasundar; Lakshmi Loganathan; Ashis Kumar; Agnes Selina; Vrisha Madhuri
Journal:  Indian J Pediatr       Date:  2019-11-14       Impact factor: 1.967

Review 6.  COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Authors:  Jason Kennedy; Gail Jackson; Simon Ramsden; Jacky Taylor; William Newman; Michael J Wright; Dian Donnai; Rob Elles; Michael D Briggs
Journal:  Eur J Hum Genet       Date:  2005-05       Impact factor: 4.246

7.  Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

Authors:  Sally L Cotterill; Gail C Jackson; Matthew P Leighton; Raimund Wagener; Outi Mäkitie; William G Cole; Michael D Briggs
Journal:  Hum Mutat       Date:  2005-12       Impact factor: 4.878

Review 8.  Analysing the role of endogenous matrix molecules in the development of osteoarthritis.

Authors:  Nidhi Sofat
Journal:  Int J Exp Pathol       Date:  2009-10       Impact factor: 1.925

9.  An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype.

Authors:  Karen L Posey; Alka C Veerisetty; Pieman Liu; Huiqiu R Wang; Brian J Poindexter; Roger Bick; Joseph L Alcorn; Jacqueline T Hecht
Journal:  Am J Pathol       Date:  2009-09-17       Impact factor: 4.307

Review 10.  The unfolded protein response and its relevance to connective tissue diseases.

Authors:  Raymond P Boot-Handford; Michael D Briggs
Journal:  Cell Tissue Res       Date:  2009-10-23       Impact factor: 5.249
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