Literature DB >> 21360259

Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation.

Julia V Woelfle1, R E Brenner, B Zabel, H Reichel, M Nelitz.   

Abstract

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Year:  2011        PMID： 21360259     DOI： 10.1007/s00776-011-0021-y

Source DB:  PubMed          Journal:  J Orthop Sci        ISSN： 0949-2658            Impact factor:   1.601


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  10 in total

Review 1.  Novel insights into the function and dynamics of extracellular matrix in liver fibrosis.

Authors:  Morten A Karsdal; Tina Manon-Jensen; Federica Genovese; Jacob H Kristensen; Mette J Nielsen; Jannie Marie B Sand; Niels-Ulrik B Hansen; Anne-Christine Bay-Jensen; Cecilie L Bager; Aleksander Krag; Andy Blanchard; Henrik Krarup; Diana J Leeming; Detlef Schuppan
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2015-03-12       Impact factor: 4.052

Review 2.  Extracellular matrix remodeling: the common denominator in connective tissue diseases. Possibilities for evaluation and current understanding of the matrix as more than a passive architecture, but a key player in tissue failure.

Authors:  Morten A Karsdal; Mette J Nielsen; Jannie M Sand; Kim Henriksen; Federica Genovese; Anne-Christine Bay-Jensen; Victoria Smith; Joanne I Adamkewicz; Claus Christiansen; Diana J Leeming
Journal:  Assay Drug Dev Technol       Date:  2012-10-09       Impact factor: 1.738

3.  A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.

Authors:  Francisco Cammarata-Scalisi; Uta Matysiak; Tanja Velten; Michele Callea; Dianora Araque; Colin E Willoughby; Angela Galeotti; Andrea Avendaño
Journal:  Mol Syndromol       Date:  2019-02-09

Review 4.  Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.

Authors:  Huixiao Wu; Shuping Wang; Guimei Li; Yangyang Yao; Ning Wang; Xiaoqing Sun; Li Fang; Xiuyun Jiang; Jiajun Zhao; Yanzhou Wang; Chao Xu
Journal:  Mol Genet Genomic Med       Date:  2021-03-25       Impact factor: 2.183

5.  Temporal gene expression profiling of the rat knee joint capsule during immobilization-induced joint contractures.

Authors:  Kayleigh Wong; Fangui Sun; Guy Trudel; Paola Sebastiani; Odette Laneuville
Journal:  BMC Musculoskelet Disord       Date:  2015-05-26       Impact factor: 2.362

6.  Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child.

Authors:  Efat Khorasani; Rahim Vakili
Journal:  Iran J Med Sci       Date:  2016-01

7.  Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data.

Authors:  Bing Wang; Li He; Wusheng Miao; Ge Wu; Hai Jiang; Yongtao Wu; Jining Qu; Min Li
Journal:  Int J Mol Med       Date:  2017-04-19       Impact factor: 4.101

8.  A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.

Authors:  Mushtaq Ahmed; Saad Nasir; Syeda Shaheera Riaz Hashmi; Zia Iqbal; Ayesha Saleem
Journal:  Cureus       Date:  2020-03-23

9.  Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.

Authors:  Lingchi Kong; Li Shi; Wenbo Wang; Rongtai Zuo; Mengwei Wang; Qinglin Kang
Journal:  BMC Med Genet       Date:  2019-12-19       Impact factor: 2.103

10.  A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage.

Authors:  Qiong Chen; Sheng-Nan Wu; Yong-Xing Chen; Selvaa Kumar C; Lu Zhang; Hai-Yan Wei; Senthil Arun Kumar
Journal:  Bone Rep       Date:  2019-12-13
  10 in total

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