NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD) (Q37781313)

23 August 2017

title

NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD) (English)

1 reference

20 June 2024

main subject

congenital disorder

0 references

congenital heart disease

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20725931

20 June 2024

author name string

Stella Marie Reamon-Buettner

series ordinal

1

1 reference

23 August 2017

Juergen Borlak

series ordinal

2

1 reference

23 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20725931

20 June 2024

publication date

12 October 2010

1 reference

full work available at URL

23 August 2017

https://doi.org/10.1002/humu.21345

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20725931

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.21345

20 June 2024

1 reference

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.21345

20 June 2024

1 reference

20 June 2024

1 reference

23 August 2017

volume

31

1 reference

23 August 2017

issue

11

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23 August 2017

page(s)

1185-1194

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Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system

23 August 2017

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Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects

21 January 2018

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Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations

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7 January 2021

The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?

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7 January 2021

Genetics and embryological mechanisms of congenital heart diseases

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7 January 2021

Examining the cardiac NK-2 genes in early heart development.

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7 January 2021

Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale

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7 January 2021

Genetic origins of pediatric heart disease

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7 January 2021

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

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7 January 2021

Genetic mechanisms controlling cardiovascular development

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7 January 2021

Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene

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Perinatal loss of Nkx2-5 results in rapid conduction and contraction defects

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7 January 2021

Air pollution and cardiovascular disease: a statement for healthcare professionals from the Expert Panel on Population and Prevention Science of the American Heart Association

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7 January 2021

The developmental genetics of congenital heart disease.

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7 January 2021

Building the mammalian heart from two sources of myocardial cells

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7 January 2021

Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes

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7 January 2021

Transcription factors and congenital heart defects

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7 January 2021

Heart valve development: regulatory networks in development and disease

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7 January 2021

Familial transposition of the great arteries caused by multiple mutations in laterality genes

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7 January 2021

Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis

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7 January 2021

Investigation of somatic NKX2-5 mutations in congenital heart disease

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connection

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7 January 2021

NKX2.5 mutations in patients with non-syndromic congenital heart disease.

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7 January 2021

NKX2.5 mutations in patients with tetralogy of fallot

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7 January 2021

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

1 reference

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7 January 2021

A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

1 reference

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7 January 2021

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene

1 reference

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7 January 2021

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects

1 reference

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7 January 2021

Homeodomain factor Nkx2-5 in heart development and disease

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7 January 2021

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

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7 January 2021

NKX2.5 and congenital heart defects: A population-based study

1 reference

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7 January 2021

Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient

1 reference

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7 January 2021

Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease

1 reference

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7 January 2021

Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system.

1 reference

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7 January 2021

Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

1 reference

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7 January 2021

Genes in congenital heart disease: atrioventricular valve formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Multiple mutations in genetic cardiovascular disease: a marker of disease severity?

1 reference

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7 January 2021

NKX2.5/NKX2.6 Mutations Are Not a Common Cause of Isolated Type 1 Truncus Arteriosus in a Small Cohort of Multiethnic Cases

1 reference

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7 January 2021

Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5:

1 reference

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7 January 2021

Fresh fields and pathways new: recent genetic insights into cardiac malformation

1 reference

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7 January 2021

Baf60c is essential for function of BAF chromatin remodelling complexes in heart development

1 reference

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7 January 2021

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

1 reference

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7 January 2021

Balancing AID and DNA repair during somatic hypermutation

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

NKX2.5mutations in patients with congenital heart disease

1 reference

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7 January 2021

Dual effects of the homeobox transcription factor Csx/Nkx2-5 on cardiomyocytes

1 reference

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7 January 2021

Genetic insights into normal and abnormal heart development

1 reference

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7 January 2021

Functional role of Notch signaling in the developing and postnatal heart

1 reference

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7 January 2021

Notch signaling in cardiac development

1 reference

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7 January 2021

A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Altering nucleosomes during DNA double-strand break repair in yeast.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Recurrence of Congenital Heart Defects in Families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Oncogenic events triggered by AID, the adverse effect of antibody diversification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Spectrum of heart disease associated with murine and human GATA4 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

A functional genetic study identifies HAND1 mutations in septation defects of the human heart

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Signaling pathways controlling second heart field development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

miRNA-processing enzyme Dicer is necessary for cardiac outflow tract alignment and chamber septation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Endocardial Brg1 represses ADAMTS1 to maintain the microenvironment for myocardial morphogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Pbx/Meis deficiencies demonstrate multigenetic origins of congenital heart disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Slow progressive conduction and contraction defects in loss of Nkx2-5 mice after cardiomyocyte terminal differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Nkx genes regulate heart tube extension and exert differential effects on ventricular and atrial cell number

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Immunoglobulin somatic hypermutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Cooperative interaction of Nkx2.5 and Mef2c transcription factors during heart development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Polybromo protein BAF180 functions in mammalian cardiac chamber maturation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

The genetics of congenital heart disease: a review of recent developments.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Heterogeneity of genetic modifiers ensures normal cardiac development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Nkx2-5- and Isl1-expressing cardiac progenitors contribute to proepicardium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21345

7 January 2021

Signal transduction in early heart development (I): cardiogenic induction and heart tube formation

series ordinal

86

1 reference

20 June 2024

Identifiers

DOI

10.1002/HUMU.21345

1 reference

23 August 2017

1 reference