Literature DB >> 14684695

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.

E Jakkula, J Lohiniva, A Capone, L Bonafe, M Marti, V Schuster, A Giedion, G Eich, E Boltshauser, L Ala-Kokko, A Superti-Furga.   

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Year:  2003        PMID： 14684695      PMCID： PMC1735347          DOI： 10.1136/jmg.40.12.942

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


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  14 in total

1.  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

2.  Multiple epiphyseal dysplasia.

Authors:  Johanna Dahlqvist; Hanna Orlén; Hans Matsson; Niklas Dahl; Torsten Lönnerholm; Karl-Henrik Gustavson
Journal:  Acta Orthop       Date:  2009-12       Impact factor: 3.717

3.  Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.

Authors:  Katarzyna A Piróg; Michael D Briggs
Journal:  J Biomed Biotechnol       Date:  2010-05-24

Review 4.  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

5.  Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.

Authors:  Gail C Jackson; Dominique Marcus-Soekarman; Irene Stolte-Dijkstra; Aad Verrips; Jacqueline A Taylor; Michael D Briggs
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

6.  Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Authors:  Gail C Jackson; Laureane Mittaz-Crettol; Jacqueline A Taylor; Geert R Mortier; Juergen Spranger; Bernhard Zabel; Martine Le Merrer; Valerie Cormier-Daire; Christine M Hall; Amaka Offiah; Michael J Wright; Ravi Savarirayan; Gen Nishimura; Simon C Ramsden; Rob Elles; Luisa Bonafe; Andrea Superti-Furga; Sheila Unger; Andreas Zankl; Michael D Briggs
Journal:  Hum Mutat       Date:  2011-10-31       Impact factor: 4.878

7.  Type IX collagen deficiency enhances the binding of cartilage-specific antibodies and arthritis severity.

Authors:  Stefan Carlsen; Kutty Selva Nandakumar; Rikard Holmdahl
Journal:  Arthritis Res Ther       Date:  2006       Impact factor: 5.156

8.  Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.

Authors:  Katarzyna A Piróg; Yoshihisa Katakura; Aleksandr Mironov; Michael D Briggs
Journal:  PLoS One       Date:  2013-11-27       Impact factor: 3.240

9.  A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia.

Authors:  Katarzyna A Piróg; Oihane Jaka; Yoshihisa Katakura; Roger S Meadows; Karl E Kadler; Raymond P Boot-Handford; Michael D Briggs
Journal:  Hum Mol Genet       Date:  2010-01-01       Impact factor: 6.150

Review 10.  Pseudoachondroplasia/COMP - translating from the bench to the bedside.

Authors:  Karen LaShea Posey; Joseph L Alcorn; Jacqueline T Hecht
Journal:  Matrix Biol       Date:  2014-06-02       Impact factor: 11.583
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