Literature DB >> 19417549

A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.

Hong Guo1, Xueqing Xu, Kai Wang, Bo Zhang, Guohong Deng, Yan Wang, Yun Bai.   

Abstract

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Year:  2009        PMID： 19417549     DOI： 10.1007/s12041-009-0012-3

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  10 in total

1.  The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Authors:  A K Gedeon; G E Tiller; M Le Merrer; S Heuertz; L Tranebjaerg; D Chitayat; S Robertson; I A Glass; R Savarirayan; W G Cole; D L Rimoin; B G Kousseff; H Ohashi; B Zabel; A Munnich; J Gecz; J C Mulley
Journal:  Am J Hum Genet       Date:  2001-05-08       Impact factor: 11.025

2.  Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

Authors:  P T Christie; A Curley; M A Nesbit; C Chapman; S Genet; P S Harper; S L Keeling; A O Wilkie; R M Winter; R V Thakker
Journal:  J Clin Endocrinol Metab       Date:  2001-07       Impact factor: 5.958

3.  A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.

Authors:  G E Tiller; V L Hannig; D Dozier; L Carrel; K C Trevarthen; W R Wilcox; S Mundlos; J L Haines; A K Gedeon; J Gecz
Journal:  Am J Hum Genet       Date:  2001-04-26       Impact factor: 11.025

4.  The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.

Authors:  S Mumm; X Zhang; M Vacca; M D'Esposito; M P Whyte
Journal:  Gene       Date:  2001-08-08       Impact factor: 3.688

5.  Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.

Authors:  A K Gedeon; A Colley; R Jamieson; E M Thompson; J Rogers; D Sillence; G E Tiller; J C Mulley; J Gécz
Journal:  Nat Genet       Date:  1999-08       Impact factor: 38.330

6.  Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.

Authors:  J Gécz; M A Hillman; A K Gedeon; T C Cox; E Baker; J C Mulley
Journal:  Genomics       Date:  2000-10-15       Impact factor: 5.736

7.  Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not.

Authors:  Jozef Gécz; Marie A Shaw; Jennifer R Bellon; Miguel de Barros Lopes
Journal:  Gene       Date:  2003-11-27       Impact factor: 3.688

Review 8.  Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.

Authors:  M A Shaw; N Brunetti-Pierri; L Kádasi; V Kovácová; L Van Maldergem; D De Brasi; M Salerno; J Gécz
Journal:  Clin Genet       Date:  2003-09       Impact factor: 4.438

9.  X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.

Authors:  Jörg Fiedler; Martine Le Merrer; Geert Mortier; Solange Heuertz; Laurence Faivre; Rolf E Brenner
Journal:  Hum Mutat       Date:  2004-07       Impact factor: 4.878

10.  Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.

Authors:  Se Bok Jang; Yeon-Gil Kim; Yong-Soon Cho; Pann-Ghill Suh; Kyung-Hwa Kim; Byung-Ha Oh
Journal:  J Biol Chem       Date:  2002-10-01       Impact factor: 5.157
  10 in total

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