Literature DB >> 8528240

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).

Y Muragaki1, E C Mariman, S E van Beersum, M Perälä, J B van Mourik, M L Warman, B R Olsen, B C Hamel.   

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Year:  1996        PMID： 8528240     DOI： 10.1038/ng0196-103

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  41 in total

1.  A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Authors:  C G Bönnemann; G F Cox; F Shapiro; J J Wu; C A Feener; T G Thompson; D C Anthony; D R Eyre; B T Darras; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-01       Impact factor: 11.205

Review 2.  Lessons from genetic forms of osteoarthritis for the pathogenesis of the disease.

Authors:  Y Li; L Xu; B R Olsen
Journal:  Osteoarthritis Cartilage       Date:  2007-06-14       Impact factor: 6.576

Review 3.  Skeletal dysplasias.

Authors:  C G Brook; B B de Vries
Journal:  Arch Dis Child       Date:  1998-09       Impact factor: 3.791

4.  Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Authors:  H van Bokhoven; M Jung; A P Smits; S van Beersum; F Rüschendorf; M van Steensel; M Veenstra; J H Tuerlings; E C Mariman; H G Brunner; T F Wienker; A Reis; H H Ropers; B C Hamel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

5.  Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Authors:  M D Briggs; G R Mortier; W G Cole; L M King; S S Golik; J Bonaventure; L Nuytinck; A De Paepe; J G Leroy; L Biesecker; M Lipson; W R Wilcox; R S Lachman; D L Rimoin; R G Knowlton; D H Cohn
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

6.  Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.

Authors:  Anna B Osipovich; Jennifer L Jennings; Qing Lin; Andrew J Link; H Earl Ruley
Journal:  Proc Natl Acad Sci U S A       Date:  2008-10-13       Impact factor: 11.205

7.  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

8.  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

9.  Disease gene characterization through large-scale co-expression analysis.

Authors:  Allen Day; Jun Dong; Vincent A Funari; Bret Harry; Samuel P Strom; Dan H Cohn; Stanley F Nelson
Journal:  PLoS One       Date:  2009-12-31       Impact factor: 3.240

10.  Positional cloning of zinc finger domain transcription factor Zfp69, a candidate gene for obesity-associated diabetes contributed by mouse locus Nidd/SJL.

Authors:  Stephan Scherneck; Matthias Nestler; Heike Vogel; Matthias Blüher; Marcel-Dominique Block; Mauricio Berriel Diaz; Stephan Herzig; Nadja Schulz; Marko Teichert; Sina Tischer; Hadi Al-Hasani; Reinhart Kluge; Annette Schürmann; Hans-Georg Joost
Journal:  PLoS Genet       Date:  2009-07-03       Impact factor: 5.917
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