A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot (Q36497115)

14 August 2017

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot (English)

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14 August 2017

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8

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15

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14 August 2017

Giuseppe Lamorte

10

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Rosangela Ferese

Rosangela Ferese

2

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Antonio Zaza

Antonio Zaza

13

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Massimiliano Copetti

Massimiliano Copetti

9

0 references

Serena Cecchetti

6

Serena Cecchetti

1 reference

14 August 2017

Valentina Guida

1

1 reference

14 August 2017

Marcella Rocchetti

3

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14 August 2017

Monica Bonetti

4

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14 August 2017

Anna Sarkozy

5

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14 August 2017

Vania Gelmetti

7

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14 August 2017

Maria Cristina Digilio

11

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14 August 2017

Bruno Marino

12

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14 August 2017

Jeroen den Hertog

14

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14 August 2017

Alessandro De Luca

16

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14 August 2017

20 June 2012

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European Journal of Human Genetics

14 August 2017

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21

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1

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14 August 2017

69-75

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describes a project that uses

14 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3533258/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Mutations in connexin genes and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Duplication hotspots, rare genomic disorders, and common disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Structural changes in the carboxyl terminus of the gap junction protein connexin 40 caused by the interaction with c-Src and zonula occludens-1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

GATA4 sequence variants in patients with congenital heart disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Zonula occludens-1 alters connexin43 gap junction size and organization by influencing channel accretion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Mutations in NOTCH1 cause aortic valve disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Novel Src homology 3 domain-binding motifs identified from proteomic screen of a Pro-rich region

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Genetically modified mice: tools to decode the functions of connexins in the heart-new models for cardiovascular research

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Regulation of connexin43 protein complexes by intracellular acidification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Intrinsic disorder and protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

NKX2.5 mutations in patients with tetralogy of fallot

30 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

30 September 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

v-Src phosphorylation of connexin 43 on Tyr247 and Tyr265 disrupts gap junctional communication

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Cardiac gap junction channels: modulation of expression and channel properties

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Abnormal cardiac conduction and morphogenesis in connexin40 and connexin43 double-deficient mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Restricted expression of cardiac myosin genes reveals regulated aspects of heart tube assembly in zebrafish.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Dissection of the molecular basis of pp60(v-src) induced gating of connexin 43 gap junction channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Direct association of the gap junction protein connexin-43 with ZO-1 in cardiac myocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Structure of the zebrafish snail1 gene and its expression in wild-type, spadetail and no tail mutant embryos

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study

28 June 2018

1 reference

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

28 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

Novel connexin40 missense mutations in patients with familial atrial fibrillation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

The protein trinity--linking function and disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

NKX2.5mutations in patients with congenital heart disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3533258

Study of the specific heat of a CeCoAl4 single crystal in high magnetic fields

21 September 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.109

Frequency of 22q11 deletions in patients with conotruncal defects

21 January 2018

1 reference

12 December 2020

Connexin40 nonsense mutation in familial atrial fibrillation

1 reference

12 December 2020

Anatomic patterns of conotruncal defects associated with deletion 22q11

1 reference

12 December 2020

High Incidence of Cardiac Malformations in Connexin40-Deficient Mice

1 reference

12 December 2020

Increased association of ZO-1 with connexin43 during remodeling of cardiac gap junctions

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.109

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

PubMed publication ID

22713807

1 reference