Literature DB >> 15121775

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.

Z U Borochowitz, D Scheffer, V Adir, N Dagoneau, A Munnich, V Cormier-Daire.   

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Year:  2004        PMID： 15121775      PMCID： PMC1735768          DOI： 10.1136/jmg.2003.013342

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


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  31 in total

1.  A haplotype of MATN3 is associated with vertebral fracture in Chinese postmenopausal women: Peking Vertebral Fracture (PK-VF) study.

Authors:  Jing Zhao; Weibo Xia; Min Nie; Xin Zheng; Qiuping Wang; Xiran Wang; Wenbo Wang; Zhiwei Ning; Wei Huang; Yan Jiang; Mei Li; Ou Wang; Xiaoping Xing; Yue Sun; Lianmei Luo; Shuli He; Wei Yu; Qiang Lin; Yu Pei; Fan Zhang; Youxia Han; Yanmin Tong; Ying Che; Ruixin Shen; Yingying Hu; Xueying Zhou; Qian Chen; Ling Xu
Journal:  Bone       Date:  2012-01-16       Impact factor: 4.398

2.  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

Review 3.  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

4.  Proteolytic processing causes extensive heterogeneity of tissue matrilin forms.

Authors:  Harald W A Ehlen; Gerhard Sengle; Andreas R Klatt; Anja Talke; Stefan Müller; Mats Paulsson; Raimund Wagener
Journal:  J Biol Chem       Date:  2009-06-16       Impact factor: 5.157

5.  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

6.  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

7.  Matrilin-3 inhibits chondrocyte hypertrophy as a bone morphogenetic protein-2 antagonist.

Authors:  Xu Yang; Samir K Trehan; Yingjie Guan; Changqi Sun; Douglas C Moore; Chathuraka T Jayasuriya; Qian Chen
Journal:  J Biol Chem       Date:  2014-10-20       Impact factor: 5.157

8.  MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

Authors:  Ann M Kennedy; Masaki Inada; Stephen M Krane; Paul T Christie; Brian Harding; Carlos López-Otín; Luis M Sánchez; Anna A J Pannett; Andrew Dearlove; Claire Hartley; Michael H Byrne; Anita A C Reed; M Andrew Nesbit; Michael P Whyte; Rajesh V Thakker
Journal:  J Clin Invest       Date:  2005-10       Impact factor: 14.808

9.  Altered endochondral bone development in matrix metalloproteinase 13-deficient mice.

Authors:  Dominique Stickens; Danielle J Behonick; Nathalie Ortega; Babette Heyer; Bettina Hartenstein; Ying Yu; Amanda J Fosang; Marina Schorpp-Kistner; Peter Angel; Zena Werb
Journal:  Development       Date:  2004-12       Impact factor: 6.868

10.  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
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