(Q47144137)

9 January 2018

title

Genetic abnormalities in FOXP1 are associated with congenital heart defects (English)

1 reference

9 January 2018

author

Kim L. McBride

7

1 reference

9 January 2018

Vidu Garg

9

1 reference

9 January 2018

author name string

Sheng-Wei Chang

1

1 reference

9 January 2018

Mona Mislankar

2

1 reference

9 January 2018

Chaitali Misra

3

1 reference

9 January 2018

Nianyuan Huang

4

1 reference

9 January 2018

Daniel G Dajusta

5

1 reference

9 January 2018

Steven M Harrison

6

1 reference

9 January 2018

Linda A Baker

8

1 reference

9 January 2018

publication date

11 July 2013

1 reference

9 January 2018

published in

Human Mutation

1 reference

9 January 2018

volume

34

1 reference

9 January 2018

issue

9

1 reference

9 January 2018

page(s)

1226-1230

1 reference

9 January 2018

Modifying Mendel: approaches for identification of susceptibility alleles for human cardiovascular malformations.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Genetics of human cardiovascular disease

23 May 2018

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3p interstitial deletion: novel case report and review

23 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Left ventricular hypoplasia: a spectrum of disease involving the left ventricular outflow tract, aortic valve, and aorta

23 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Genetics of congenital heart disease

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Foxp1 coordinates cardiomyocyte proliferation through both cell-autonomous and nonautonomous mechanisms

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Nkx2.7 and Nkx2.5 function redundantly and are required for cardiac morphogenesis of zebrafish embryos

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

GATA4 sequence variants in patients with congenital heart disease

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Insights into the genetic basis of congenital heart disease.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

The incidence of congenital heart disease

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

The FOXP1 winged helix transcription factor is a novel candidate tumor suppressor gene on chromosome 3p.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

NKX2.5mutations in patients with congenital heart disease

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5717756

HL-1 cells: a cardiac muscle cell line that contracts and retains phenotypic characteristics of the adult cardiomyocyte

15 August 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22366

Enhancement of the recycling and activation of beta-adrenergic receptor by Rab4 GTPase in cardiac myocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22366

Heredity of bicuspid aortic valve: is family screening indicated?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22366

Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22366

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22366

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23766104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23766104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22366

1 reference

9 January 2018

PMC publication ID

5717756

1 reference

9 January 2018

PubMed publication ID

23766104

1 reference

9 January 2018