Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease (Q55671555)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21110066

3 September 2024

4

Xiaotian Li

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21110066

3 September 2024

author name string

Ting Peng

series ordinal

1

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Li Wang

series ordinal

2

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Shu-Feng Zhou

series ordinal

3

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language of work or name

English

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publication date

December 2010

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26 November 2010

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21110066

full work available at URL

3 September 2024

http://link.springer.com/content/pdf/10.1007/s10709-010-9522-4.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1007/S10709-010-9522-4

http://link.springer.com/article/10.1007/s10709-010-9522-4/fulltext.html

3 September 2024

1 reference

https://api.crossref.org/works/10.1007/S10709-010-9522-4

http://link.springer.com/content/pdf/10.1007/s10709-010-9522-4

3 September 2024

1 reference

https://api.crossref.org/works/10.1007/S10709-010-9522-4

3 September 2024

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138

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issue

11-12

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page(s)

1231-40

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cites work

The cardiac determination factor, Nkx2-5, is activated by mutual cofactors GATA-4 and Smad1/4 via a novel upstream enhancer

1 reference

https://api.crossref.org/works/10.1007%2FS10709-010-9522-4

DNA-binding specificities of the GATA transcription factor family

21 January 2018

1 reference

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The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression

21 January 2018

1 reference

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GATA4 transcription factor is required for ventral morphogenesis and heart tube formation

21 January 2018

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12 December 2020

Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease

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GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart

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The gene tinman is required for specification of the heart and visceral muscles in Drosophila

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Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5

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Combinatorial expression of GATA4, Nkx2-5, and serum response factor directs early cardiac gene activity.

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

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Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation.

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

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Transcription factors and congenital heart defects

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Development of heart valves requires Gata4 expression in endothelial-derived cells

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

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Vertebrate homologs of tinman and bagpipe: roles of the homeobox genes in cardiovascular development

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GATA4 mutations in 486 Chinese patients with congenital heart disease.

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12 December 2020

GATA4 mutations in Chinese patients with congenital cardiac septal defects.

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12 December 2020

Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5

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Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects

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12 December 2020

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

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12 December 2020

NKX2.5 and congenital heart defects: A population-based study

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12 December 2020

GATA4 is a dosage-sensitive regulator of cardiac morphogenesis

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Genetic mechanisms controlling cardiovascular development

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12 December 2020

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

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12 December 2020

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

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12 December 2020

NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)

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12 December 2020

GATA4 sequence variants in patients with congenital heart disease

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12 December 2020

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

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12 December 2020

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

1 reference

12 December 2020

GATA transcription factors in the developing and adult heart

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a GATA motif in the cardiac alpha-myosin heavy-chain-encoding gene and isolation of a human GATA-4 cDNA.

1 reference

12 December 2020

GATA4 is a direct transcriptional activator of cyclin D2 and Cdk4 and is required for cardiomyocyte proliferation in anterior heart field-derived myocardium.

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12 December 2020

Congenital cardiac disease in the newborn infant: past, present, and future

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12 December 2020

Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis

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12 December 2020

Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient

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12 December 2020

The transcription factor GATA-4 regulates cytochrome P4502C19 gene expression

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12 December 2020

Spectrum of heart disease associated with murine and human GATA4 mutation

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12 December 2020

Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connection

1 reference

12 December 2020

NKX2.5 mutations in patients with non-syndromic congenital heart disease.

1 reference

12 December 2020

New insights into the regulation of CYP2C9 gene expression: the role of the transcription factor GATA-4.

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12 December 2020

Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects

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12 December 2020

Mutation of NKX2-5 gene in patients with atrial septal defect

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12 December 2020

GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease

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12 December 2020

A calcineurin-dependent transcriptional pathway for cardiac hypertrophy

1 reference

12 December 2020

The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors

1 reference

12 December 2020

The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development

1 reference

12 December 2020

Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx

1 reference

12 December 2020

Csx: a murine homeobox-containing gene specifically expressed in the developing heart

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12 December 2020

GATA-dependent recruitment of MEF2 proteins to target promoters

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12 December 2020

Examining the cardiac NK-2 genes in early heart development.

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12 December 2020

The incidence of congenital heart disease

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12 December 2020

A novel mutation of GATA4 in a familial atrial septal defect

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12 December 2020

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene

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12 December 2020

The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?

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12 December 2020

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

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12 December 2020

Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD).

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12 December 2020

NKX2.5 mutations in patients with tetralogy of fallot

1 reference

12 December 2020

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

1 reference

12 December 2020

NKX2.5mutations in patients with congenital heart disease

1 reference

12 December 2020

Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein

1 reference

12 December 2020

The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism

1 reference

12 December 2020

tinman and bagpipe: two homeo box genes that determine cell fates in the dorsal mesoderm of Drosophila

1 reference

12 December 2020

Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease

1 reference

12 December 2020

The transcription factor GATA4 is activated by extracellular signal-regulated kinase 1- and 2-mediated phosphorylation of serine 105 in cardiomyocytes

1 reference

12 December 2020

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

1 reference

12 December 2020

Assignment of the transcription factor GATA4 gene to human chromosome 8 and mouse chromosome 14: Gata4 is a candidate gene for Ds (disorganization).

1 reference

12 December 2020

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

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12 December 2020

Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy

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12 December 2020

Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases

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12 December 2020

[Preliminary exploration of transcription factor Nkx2.5 mutations and congenital heart diseases]

1 reference

12 December 2020

Morphogenesis of the right ventricle requires myocardial expression of Gata4

1 reference

12 December 2020

Chinese journal of pediatrics

35

47

696

XY Liu

2009

1 reference

https://api.crossref.org/works/10.1007/S10709-010-9522-4

Chinese Journal of Medical Genetics

3 September 2024

65

23

134

ZH Tang

2006

1 reference

https://api.crossref.org/works/10.1007/S10709-010-9522-4

3 September 2024

Identifiers

Dimensions Publication ID

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1007996290

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