(Q37120985)

18 August 2017

GATA4 sequence variants in patients with congenital heart disease (English)

1 reference

18 August 2017

0 references

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V Garg

4

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author name string

A Tomita-Mitchell

1

1 reference

18 August 2017

C L Maslen

2

1 reference

18 August 2017

C D Morris

3

1 reference

18 August 2017

E Goldmuntz

5

1 reference

18 August 2017

language of work or name

English

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publication date

1 December 2007

1 reference

Journal of Medical Genetics

18 August 2017

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18 August 2017

44

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18 August 2017

12

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18 August 2017

779-783

1 reference

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

A "silent" polymorphism in the MDR1 gene changes substrate specificity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Genetics. SNPs, silent but not invisible.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

GATA4 is a dosage-sensitive regulator of cardiac morphogenesis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

SIFT: Predicting amino acid changes that affect protein function

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

ESEfinder: A web resource to identify exonic splicing enhancers

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Listening to silence and understanding nonsense: exonic mutations that affect splicing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

A genomic view of alternative splicing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

NKX2.5 mutations in patients with tetralogy of fallot

14 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

14 September 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Predicting deleterious amino acid substitutions

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Prediction of deleterious human alleles

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

A genetic blueprint for cardiac development

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Towards a structural basis of human non-synonymous single nucleotide polymorphisms

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

The genetics of Wilms' tumor--a case of disrupted development

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

NKX2.5mutations in patients with congenital heart disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Ligand-activated Ahr signaling leads to disruption of nephrogenesis and altered Wilms' tumor suppressor mRNA splicing.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652815

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

3 September 2018

1 reference

12 December 2020

Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy

1 reference

12 December 2020

Recurrence risks in children having one parent with a congenital heart disease

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

1 reference

12 December 2020

Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2007.052183

1 reference

18 August 2017

1 reference

18 August 2017

1 reference