Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. (Q30842375)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28352650%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

title

Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling (English)

1 reference

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14 March 2020

main subject

congenital disorder

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congenital heart disease

1 reference

10

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14 March 2020

Michael Cowley

18

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14 March 2020

James T. Pearson

19

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14 March 2020

Mirana Ramialison

21

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Nadia Rosenthal

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14 March 2020

Mauro W Costa

24

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14 March 2020

Richard P Harvey

22

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David M Kaye

object named as

David Kaye

20

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author name string

Milena B Furtado

1

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14 March 2020

Julia C Wilmanns

2

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14 March 2020

Anjana Chandran

3

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Joelle Perera

4

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Olivia Hon

5

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14 March 2020

Christine Biben

6

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Taylor J Willow

7

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Hieu T Nim

8

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Gurpreet Kaur

9

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Qizhu Wu

11

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14 March 2020

David Willians

12

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14 March 2020

Ekaterina Salimova

13

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Nicolas Plachta

14

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James M Denegre

15

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14 March 2020

Stephen A Murray

16

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Diane Fatkin

17

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publication date

23 March 2017

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14 March 2020

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14 March 2020

volume

2

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14 March 2020

page(s)

e88271

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14 March 2020

issue

6

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describes a project that uses

14 March 2020

limma

1 reference

22 June 2022

https://europepmc.org/article/PMC/5358496

inferred from PubMed Central ID database lookup

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21 June 2018

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21 June 2018

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21 June 2018

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

21 June 2018

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

21 June 2018

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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

21 June 2018

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21 June 2018

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

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

1 reference

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Zebrafish prickle, a modulator of noncanonical Wnt/Fz signaling, regulates gastrulation movements.

21 June 2018

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NKX2.5 mutations in patients with tetralogy of fallot

21 June 2018

2 references

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21 June 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

25 November 2018

1 reference

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Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

Characterization of homo- and heterodimerization of cardiac Csx/Nkx2.5 homeoprotein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

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

21 June 2018

1 reference

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Congenital heart disease in adults. First of two parts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

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

21 June 2018

1 reference

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The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

Homeodomain factor Nkx2-5 controls left/right asymmetric expression of bHLH gene eHand during murine heart development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

Histochemical methods for separate, consecutive and simultaneous demonstration of acetylcholinesterase and norepinephrine in cryostat sections.

21 June 2018

1 reference

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A novel conditional mouse model for Nkx2-5 reveals transcriptional regulation of cardiac ion channels.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

Wnt signalling suppresses voltage-dependent Na⁺ channel expression in postnatal rat cardiomyocytes

25 November 2018

1 reference

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Probing transcription factor diffusion dynamics in the living mammalian embryo with photoactivatable fluorescence correlation spectroscopy

25 November 2018

1 reference

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Use of within-array replicate spots for assessing differential expression in microarray experiments.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5358496

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

25 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

The right ventricle in congenital heart disease

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene

1 reference

12 December 2020

10.1172/JCI.INSIGHT.88271

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28352650%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28352650%20AND%20SRC:MED&resulttype=core&format=json

14 March 2020

1 reference