(Q40857837)

24 September 2017

Single allele mutations at the heart of congenital disease (English)

1 reference

24 September 2017

0 references

1

1 reference

24 September 2017

R P Harvey

2

1 reference

PMCID

409868

24 September 2017

language of work or name

English

0 references

publication date

1 December 1999

1 reference

Journal of Clinical Investigation

24 September 2017

1 reference

24 September 2017

104

1 reference

24 September 2017

11

1 reference

24 September 2017

1483-1484

1 reference

To be or not to be active: the stochastic nature of enhancer action

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409868

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409868

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409868

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409868

NK-2 homeobox genes and heart development

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409868

Independent regulation of the two Pax5 alleles during B-cell development.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409868

Tinman function is essential for vertebrate heart development: elimination of cardiac differentiation by dominant inhibitory mutants of the tinman-related genes, XNkx2-3 and XNkx2-5.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409868

Vertebrate tinman homologues XNkx2-3 and XNkx2-5 are required for heart formation in a functionally redundant manner.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=409868

Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10587507

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI8825

1 reference

24 September 2017

1 reference

24 September 2017

1 reference

PMCID

409868