Literature DB >> 10991694

Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid.

C A Gregory, B Zabel, M E Grant, R P Boot-Handford, G A Wallis.   

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Year:  2000        PMID： 10991694      PMCID： PMC1734661          DOI： 10.1136/jmg.37.8.627

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


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  7 in total

1.  Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.

Authors:  Amy E Young; Jeanne R Ryun; Danika L Bannasch
Journal:  Mamm Genome       Date:  2006-07-14       Impact factor: 2.957

2.  Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.

Authors:  M Ridanpää; L M Ward; S Rockas; M Särkioja; H Mäkelä; M Susic; F H Glorieux; W G Cole; O Mäkitie
Journal:  J Med Genet       Date:  2003-10       Impact factor: 6.318

3.  Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.

Authors:  Jacqueline T Tan; Friederike Kremer; Susanna Freddi; Katrina M Bell; Naomi L Baker; Shireen R Lamandé; John F Bateman
Journal:  Am J Hum Genet       Date:  2008-02-21       Impact factor: 11.025

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.  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

6.  Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.

Authors:  Yann Pretemer; Shunsuke Kawai; Sanae Nagata; Megumi Nishio; Makoto Watanabe; Sakura Tamaki; Cantas Alev; Yoshihiro Yamanaka; Jing-Yi Xue; Zheng Wang; Kenichi Fukiage; Masako Tsukanaka; Tohru Futami; Shiro Ikegawa; Junya Toguchida
Journal:  Stem Cell Reports       Date:  2021-02-25       Impact factor: 7.765

7.  Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo.

Authors:  Qiping Zheng; Guang Zhou; Roy Morello; Yuqing Chen; Xavier Garcia-Rojas; Brendan Lee
Journal:  J Cell Biol       Date:  2003-09-01       Impact factor: 10.539
  7 in total

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