(Q43409684)

23 November 2017

title

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect (English)

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23 November 2017

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Xiaoping Lin

1

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23 November 2017

Zhaoxia Huo

2

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23 November 2017

Xingyuan Liu

3

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23 November 2017

Yangyang Zhang

4

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23 November 2017

Li Li

5

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23 November 2017

Hong Zhao

6

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23 November 2017

Biao Yan

7

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23 November 2017

Ying Liu

8

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23 November 2017

Yiqing Yang

9

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23 November 2017

Yi-Han Chen

10

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23 November 2017

publication date

15 July 2010

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Journal of Human Genetics

23 November 2017

published in

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23 November 2017

volume

55

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23 November 2017

issue

10

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23 November 2017

page(s)

662-667

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https://scigraph.springernature.com/pub.10.1038/jhg.2010.84

23 November 2017

exact match

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cites work

The developmental genetics of congenital heart disease.

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Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

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Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.84

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.84

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

Congenital heart disease caused by mutations in the transcription factor NKX2-5

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.84

The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression.

21 January 2018

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The GATA family (vertebrates and invertebrates).

21 January 2018

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The roles of GATA-4, -5 and -6 in vertebrate heart development

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.84

Characterization and functional investigation of single nucleotide polymorphisms (SNPs) in the human TLR5 gene.

21 January 2018

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A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2010.84

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

21 January 2018

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GATA4 sequence variants in patients with congenital heart disease

21 January 2018

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GATA4 mutations in 486 Chinese patients with congenital heart disease.

21 January 2018

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GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis

21 January 2018

1 reference

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Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

A threshold of GATA4 and GATA6 expression is required for cardiovascular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

Loss of both GATA4 and GATA6 blocks cardiac myocyte differentiation and results in acardia in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

21 January 2018

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Atrogin-1/muscle atrophy F-box inhibits calcineurin-dependent cardiac hypertrophy by participating in an SCF ubiquitin ligase complex

21 January 2018

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Clinical and pathophysiological implications of a bicuspid aortic valve.

21 January 2018

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Neural crest cells retain multipotential characteristics in the developing valves and label the cardiac conduction system.

21 January 2018

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GATA-4 activates transcription via two novel domains that are conserved within the GATA-4/5/6 subfamily

21 January 2018

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Cooperative interaction between GATA-4 and GATA-6 regulates myocardial gene expression

21 January 2018

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GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo

21 January 2018

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A genetic blueprint for cardiac development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

7 January 2021

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

7 January 2021

Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

7 January 2021

Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.84

7 January 2021

Identifiers

DOI

10.1038/JHG.2010.84

1 reference

23 November 2017

1 reference