Literature DB >> 12414819

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.

Y Watanabe, D W Benson, S Yano, T Akagi, M Yoshino, J C Murray.   

Abstract

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Year:  2002        PMID： 12414819      PMCID： PMC1735007          DOI： 10.1136/jmg.39.11.807

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


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  29 in total

1.  The role of Shox2 in SAN development and function.

Authors:  Hongbing Liu; Ramón A Espinoza-Lewis; Chaohui Chen; Xuefeng Hu; Yanding Zhang; Yiping Chen
Journal:  Pediatr Cardiol       Date:  2012-02-04       Impact factor: 1.655

2.  Differentiation of cardiac Purkinje fibers requires precise spatiotemporal regulation of Nkx2-5 expression.

Authors:  Brett S Harris; Laura Spruill; Angela M Edmonson; Mary S Rackley; D Woodrow Benson; Terrence X O'Brien; Robert G Gourdie
Journal:  Dev Dyn       Date:  2006-01       Impact factor: 3.780

3.  Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation.

Authors:  K König; J C Will; F Berger; D Müller; D W Benson
Journal:  Clin Res Cardiol       Date:  2006-07-20       Impact factor: 5.460

Review 4.  Genetic basis of congenital cardiovascular malformations.

Authors:  Seema R Lalani; John W Belmont
Journal:  Eur J Med Genet       Date:  2014-04-30       Impact factor: 2.708

5.  Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.

Authors:  Lijiang Ma; Elif Seda Selamet Tierney; Teresa Lee; Patricia Lanzano; Wendy K Chung
Journal:  Cardiol Young       Date:  2011-08-25       Impact factor: 1.093

6.  Ectopic expression of Nkx2.5 suppresses the formation of the sinoatrial node in mice.

Authors:  Ramón A Espinoza-Lewis; Hongbing Liu; Cheng Sun; Chaohui Chen; Kai Jiao; YiPing Chen
Journal:  Dev Biol       Date:  2011-05-26       Impact factor: 3.582

7.  Gene expression in pediatric heart disease with emphasis on conotruncal defects.

Authors:  Douglas C Bittel; Nataliya Kibiryeva; James E O'Brien; Gary K Lofland; Merlin G Butler
Journal:  Prog Pediatr Cardiol       Date:  2005-06-09

8.  Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Authors:  Ting Peng; Li Wang; Shu-Feng Zhou; Xiaotian Li
Journal:  Genetica       Date:  2010-11-26       Impact factor: 1.082

9.  Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Authors:  Stephanie M Ware; Jianlan Peng; Lirong Zhu; Susan Fernbach; Suzanne Colicos; Brett Casey; Jeffrey Towbin; John W Belmont
Journal:  Am J Hum Genet       Date:  2003-12-16       Impact factor: 11.025

Review 10.  Review of genetic factors in intestinal malrotation.

Authors:  Vicki Martin; Charles Shaw-Smith
Journal:  Pediatr Surg Int       Date:  2010-06-13       Impact factor: 1.827
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