Loss-of-function mutation in GATA4 causes anomalies of human testicular development (Q24336463)

GOA release 2020-03-11

GATA binding protein 4

1 reference

GOA release 2020-03-11

4

Claire Nihoul-Fékété

0 references

Kenneth McElreavey

5

Ken McElreavey

0 references

Anu Bashamboo

6

Anu Bashamboo

0 references

Raja Brauner

2

Raja Brauner

0 references

Diana Lourenço

1

Diana Lourenço

0 references

author name string

Magda Rybczynska

Proceedings of the National Academy of Sciences of the United States of America

3

0 references

language of work or name

English

0 references

publication date

25 January 2011

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published in

0 references

volume

108

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issue

4

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page(s)

1597-602

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cites work

Mutations in NR5A1 associated with ovarian insufficiency

1 reference

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

19 March 2017

1 reference

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Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors

19 March 2017

1 reference

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Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Spectrum of heart disease associated with murine and human GATA4 mutation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Genetic analysis of the Müllerian-inhibiting substance signal transduction pathway in mammalian sexual differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Transgenic mice expressing small interfering RNA against Gata4 point to a crucial role of Gata4 in the heart and gonads

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

The effect of human GATA4 gene mutations on the activity of target gonadal promoters.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Consensus statement on management of intersex disorders.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

A GATA4/WT1 cooperation regulates transcription of genes required for mammalian sex determination and differentiation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Positive regulation of steroidogenic acute regulatory protein gene expression through the interaction between Dlx and GATA-4 for testicular steroidogenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Role of the GATA family of transcription factors in endocrine development, function, and disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

GATA4 sequence variants in patients with congenital heart disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Transcription factor GATA-4 is expressed in a sexually dimorphic pattern during mouse gonadal development and is a potent activator of the Müllerian inhibiting substance promoter.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

The erythroid-specific transcription factor Eryf1: a new finger protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

FTZ-F1, a Steroid Hormone Receptor-like Protein Implicated in the Activation of fushi tarazu

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3029689

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

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21220346

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Modulation of endogenous GATA-4 activity reveals its dual contribution to Müllerian inhibiting substance gene transcription in Sertoli cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21220346

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

Crossref

https://api.crossref.org/works/10.1073/PNAS.1010257108

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1073/PNAS.1010257108

1 reference

ADS bibcode

2011PNAS..108.1597L

0 references

1 reference

1 reference

PubMed publication ID

21220346

1 reference