Literature DB >> 8702127

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

A Superti-Furga1, J Hästbacka, A Rossi, J J van der Harten, W R Wilcox, D H Cohn, D L Rimoin, B Steinmann, E S Lander, R Gitzelmann.   

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Year:  1996        PMID： 8702127     DOI： 10.1111/j.1749-6632.1996.tb56259.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  5 in total

1.  Fibronectin matrix assembly is essential for cell condensation during chondrogenesis.

Authors:  Purva Singh; Jean E Schwarzbauer
Journal:  J Cell Sci       Date:  2014-08-21       Impact factor: 5.285

Review 2.  The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

Authors:  Stefan F Nemec; Daniel H Cohn; Deborah Krakow; Vincent A Funari; David L Rimoin; Ralph S Lachman
Journal:  Pediatr Radiol       Date:  2011-08-24

Review 3.  A framework for the radiologic diagnosis of skeletal dysplasias and syndromes as revealed by molecular genetics.

Authors:  Jerry R Dwek
Journal:  Pediatr Radiol       Date:  2019-11-04

4.  Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength.

Authors:  J H Duncan Bassett; Apostolos Gogakos; Jacqueline K White; Holly Evans; Richard M Jacques; Anne H van der Spek; Ramiro Ramirez-Solis; Edward Ryder; David Sunter; Alan Boyde; Michael J Campbell; Peter I Croucher; Graham R Williams
Journal:  PLoS Genet       Date:  2012-08-02       Impact factor: 5.917

5.  Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Authors:  Tatiana Markova; Vladimir Kenis; Evgenii Melchenko; Aynur Alieva; Tatiana Nagornova; Anna Orlova; Natalya Ogorodova; Olga Shchagina; Alexander Polyakov; Elena Dadali; Sergey Kutsev
Journal:  Genes (Basel)       Date:  2022-08-24       Impact factor: 4.141
  5 in total

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