Literature DB >> 7780725

Cartilage disorders. The importance of being sulphated.

G A Wallis1.   

Abstract

Mutations within a gene encoding a novel sulphate transporter cause diastrophic dysplasia. This finding has implications for the management of the disorder and for understanding the structure and function of cartilage.

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Year:  1995        PMID： 7780725     DOI： 10.1016/s0960-9822(95)00044-3

Source DB:  PubMed          Journal:  Curr Biol        ISSN： 0960-9822            Impact factor:   10.834


  2 in total

1.  Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Authors:  J Hästbacka; A Superti-Furga; W R Wilcox; D L Rimoin; D H Cohn; E S Lander
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

2.  Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Authors:  Pia Hermanns; Sheila Unger; Antonio Rossi; Antonio Perez-Aytes; Hector Cortina; Luisa Bonafé; Loredana Boccone; Valeria Setzu; Michel Dutoit; Luca Sangiorgi; Fabio Pecora; Kerstin Reicherter; Gen Nishimura; Jürgen Spranger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Hum Genet       Date:  2008-06       Impact factor: 11.025
  2 in total

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