Literature DB >> 14729840

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.

G Nishimura, E Nakashima, A Mabuchi, K Shimamoto, T Shimamoto, Y Shimao, T Nagai, T Yamaguchi, R Kosaki, H Ohashi, Y Makita, S Ikegawa.   

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Year:  2004        PMID： 14729840      PMCID： PMC1757240          DOI： 10.1136/jmg.2003.013722

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


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  14 in total

Review 1.  The collagenopathies: review of clinical phenotypes and molecular correlations.

Authors:  Rebekah Jobling; Rohan D'Souza; Naomi Baker; Irene Lara-Corrales; Roberto Mendoza-Londono; Lucie Dupuis; Ravi Savarirayan; L Ala-Kokko; Peter Kannu
Journal:  Curr Rheumatol Rep       Date:  2014-01       Impact factor: 4.592

Review 2.  Cartilage diseases.

Authors:  Yamini Krishnan; Alan J Grodzinsky
Journal:  Matrix Biol       Date:  2018-05-24       Impact factor: 11.583

Review 3.  The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.

Authors:  Aaron L Fidler; Sergei P Boudko; Antonis Rokas; Billy G Hudson
Journal:  J Cell Sci       Date:  2018-04-09       Impact factor: 5.285

4.  Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

Authors:  Maria Francesca Bedeschi; Vera Bianchi; Barbara Gentilin; Lorenzo Colombo; Federica Natacci; Sabrina Giglio; Elena Andreucci; Laura Trespidi; Barbara Acaia; Andrea Superti Furga; Faustina Lalatta
Journal:  Orphanet J Rare Dis       Date:  2011-02-28       Impact factor: 4.123

5.  ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.

Authors:  Tatsuya Furuichi; Hiroshi Masuya; Tomohiko Murakami; Keiichiro Nishida; Gen Nishimura; Tomohiro Suzuki; Kazunori Imaizumi; Takashi Kudo; Kiyoshi Ohkawa; Shigeharu Wakana; Shiro Ikegawa
Journal:  Mamm Genome       Date:  2011-05-03       Impact factor: 2.957

6.  Ophthalmic and molecular genetic findings in Kniest dysplasia.

Authors:  P I Sergouniotis; G S Fincham; A M McNinch; C Spickett; A V Poulson; A J Richards; M P Snead
Journal:  Eye (Lond)       Date:  2015-01-16       Impact factor: 3.775

Review 7.  Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.

Authors:  Shiro Ikegawa
Journal:  J Hum Genet       Date:  2006-05-03       Impact factor: 3.172

8.  Structural basis of fibrillar collagen trimerization and related genetic disorders.

Authors:  Jean-Marie Bourhis; Natacha Mariano; Yuguang Zhao; Karl Harlos; Jean-Yves Exposito; E Yvonne Jones; Catherine Moali; Nushin Aghajari; David J S Hulmes
Journal:  Nat Struct Mol Biol       Date:  2012-09-23       Impact factor: 15.369

9.  Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Authors:  Allan J Richards; Gregory S Fincham; Annie McNinch; David Hill; Arabella V Poulson; Bruce Castle; Melissa M Lees; Anthony T Moore; John D Scott; Martin P Snead
Journal:  J Med Genet       Date:  2013-08-06       Impact factor: 6.318

10.  PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Authors:  Yannis J Trakadis; Caroline Buote; Jean-François Therriault; Pierre-Étienne Jacques; Hugo Larochelle; Sébastien Lévesque
Journal:  BMC Med Genomics       Date:  2014-05-12       Impact factor: 3.063
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