(Q45804540)

16 December 2017

title

Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve (English)

1 reference

16 December 2017

author

Kim L. McBride

6

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16 December 2017

Vidu Garg

7

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16 December 2017

Sara Fitzgerald-Butt

5

object named as

Sara Fitzgerald-Butt

1 reference

16 December 2017

author name string

Elizabeth M Bonachea

1

1 reference

16 December 2017

Sheng-Wei Chang

2

1 reference

16 December 2017

Gloria Zender

3

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16 December 2017

Stephanie LaHaye

4

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16 December 2017

language of work or name

English

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publication date

5 May 2014

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16 December 2017

published in

Pediatric Research

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16 December 2017

volume

76

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16 December 2017

issue

2

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16 December 2017

page(s)

211-216

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16 December 2017

https://scigraph.springernature.com/pub.10.1038/pr.2014.67

exact match

0 references

cites work

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

GATA5 loss-of-function mutations underlie tetralogy of fallot

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

An integrated map of genetic variation from 1,092 human genomes

24 May 2018

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Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Loss of Gata5 in mice leads to bicuspid aortic valve

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Identification of GATA6 sequence variants in patients with congenital heart defects.

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Alternative promoter and GATA5 transcripts in mouse

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

GATA4 sequence variants in patients with congenital heart disease

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

24 May 2018

1 reference

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Mutations in NOTCH1 cause aortic valve disease

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Morphology of bicuspid aortic valve in children and adolescents.

24 May 2018

1 reference

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Bicuspid aortic valve is heritable

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Cooperative interaction between GATA5 and NF-ATc regulates endothelial-endocardial differentiation of cardiogenic cells.

24 May 2018

1 reference

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KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

24 May 2018

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The incidence of congenital heart disease

24 May 2018

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

24 May 2018

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Clinical significance of the bicuspid aortic valve

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve

24 May 2018

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GATA-5: a transcriptional activator expressed in a novel temporally and spatially-restricted pattern during embryonic development

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families

24 May 2018

1 reference

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GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect

24 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Bicuspid aortic valve and ascending aortic aneurysm are not associated with germline or somatic homeobox NKX2-5 gene polymorphism in 19 patients.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717758

Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve

15 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.67

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.67

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.67

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FPR.2014.67

31 March 2020

Identifiers

DOI

10.1038/PR.2014.67

1 reference

16 December 2017

Dimensions Publication ID

0 references

1 reference

16 December 2017

PubMed publication ID

24796370

1 reference

16 December 2017