Literature DB >> 8528239

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

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

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Year:  1996        PMID： 8528239     DOI： 10.1038/ng0196-100

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  35 in total

1.  Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Authors:  S Chavanas; C Garner; C Bodemer; M Ali; D H Teillac; J Wilkinson; J L Bonafé; M Paradisi; D P Kelsell; S i Ansai; Y Mitsuhashi; M Larrègue; I M Leigh; J I Harper; A Taïeb; Y d Prost; L R Cardon; A Hovnanian
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

Review 2.  Genetic disorders of the skeleton: a developmental approach.

Authors:  Uwe Kornak; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2003-07-31       Impact factor: 11.025

3.  SLC26A9 is a Cl(-) channel regulated by the WNK kinases.

Authors:  Michael R Dorwart; Nikolay Shcheynikov; Youxue Wang; Steve Stippec; Shmuel Muallem
Journal:  J Physiol       Date:  2007-08-02       Impact factor: 5.182

Review 4.  The different roles of aggrecan interaction domains.

Authors:  Anders Aspberg
Journal:  J Histochem Cytochem       Date:  2012-09-26       Impact factor: 2.479

Review 5.  Aggrecan, an unusual polyelectrolyte: review of solution behavior and physiological implications.

Authors:  Preethi L Chandran; Ferenc Horkay
Journal:  Acta Biomater       Date:  2011-08-17       Impact factor: 8.947

Review 6.  Advances in endocrinology.

Authors:  P E Clayton; V Tillmann
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

Review 7.  Achondrogenesis type 1B.

Authors:  A Superti-Furga
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

8.  Evidence for GAL3ST4 mutation as the potential cause of pectus excavatum.

Authors:  Song Wu; Xiaojuan Sun; Weimin Zhu; Yi Huang; Lisha Mou; Mingming Liu; Xia Li; Feiyang Li; Xianxin Li; Yong Zhang; Zheng Wang; Wencui Li; Zesong Li; Aifa Tang; Yaoting Gui; Rongfu Wang; Weiping Li; Zhiming Cai; Daping Wang
Journal:  Cell Res       Date:  2012-11-13       Impact factor: 25.617

Review 9.  Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.

Authors:  Shuji Mizumoto; Shiro Ikegawa; Kazuyuki Sugahara
Journal:  J Biol Chem       Date:  2013-03-01       Impact factor: 5.157

10.  Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Authors:  Patrick Smits; Andrew D Bolton; Vincent Funari; Minh Hong; Eric D Boyden; Lei Lu; Danielle K Manning; Noelle D Dwyer; Jennifer L Moran; Mary Prysak; Barry Merriman; Stanley F Nelson; Luisa Bonafé; Andrea Superti-Furga; Shiro Ikegawa; Deborah Krakow; Daniel H Cohn; Tom Kirchhausen; Matthew L Warman; David R Beier
Journal:  N Engl J Med       Date:  2010-01-21       Impact factor: 91.245
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