The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. (Q33762572)

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26 December 2019

title

The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans (English)

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26 December 2019

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26 December 2019

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26 December 2019

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26 December 2019

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26 December 2019

Alexander Ghanem

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26 December 2019

Klaus Tiemann

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26 December 2019

Jan W Schrickel

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26 December 2019

Jung-Sun Kim

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26 December 2019

Mindaugas Rackauskas

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26 December 2019

Clemens Troatz

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26 December 2019

Joachim Degen

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26 December 2019

Feliksas F Bukauskas

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26 December 2019

Thorsten Lewalter

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26 December 2019

Bernd K Fleischmann

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26 December 2019

Klaus Willecke

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26 December 2019

publication date

13 November 2007

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26 December 2019

published in

Human Molecular Genetics

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26 December 2019

volume

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26 December 2019

issue

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26 December 2019

page(s)

539-554

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Key connexin 43 phosphorylation events regulate the gap junction life cycle

26 December 2019

cites work

1 reference

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Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45.

22 June 2018

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Functional connexin “hemichannels”: A critical appraisal

22 June 2018

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22 June 2018

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The gap junction cellular internet: connexin hemichannels enter the signalling limelight

22 June 2018

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Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells

22 June 2018

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Functional properties of mouse connexin30.2 expressed in the conduction system of the heart

22 June 2018

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Loss of electrical communication, but not plaque formation, after mutations in the cytoplasmic loop of connexin43.

22 June 2018

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Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice

22 June 2018

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Structural bases for the chemical regulation of Connexin43 channels

22 June 2018

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Gap junction channel gating

22 June 2018

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An update on connexin genes and their nomenclature in mouse and man.

22 June 2018

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KCNQ1 gain-of-function mutation in familial atrial fibrillation

22 June 2018

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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

22 June 2018

1 reference

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Neurological manifestations of the oculodentodigital dysplasia syndrome

22 June 2018

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Coupling asymmetry of heterotypic connexin 45/ connexin 43-EGFP gap junctions: Properties of fast and slow gating mechanisms

22 June 2018

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Loss of annexin A7 leads to alterations in frequency-induced shortening of isolated murine cardiomyocytes

22 June 2018

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Connexin 43 hemi channels mediate Ca2+-regulated transmembrane NAD+ fluxes in intact cells

22 June 2018

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Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety

22 June 2018

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Gene recombination in postmitotic cells. Targeted expression of Cre recombinase provokes cardiac-restricted, site-specific rearrangement in adult ventricular muscle in vivo.

22 June 2018

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A simple assay to determine the functionality of Cre or FLP recombination targets in genomic manipulation constructs.

22 June 2018

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Cardiac malformation in neonatal mice lacking connexin43.

22 June 2018

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Characterization of gap junctional communication-deficient mutants of a rat liver epithelial cell line

22 June 2018

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Oculo-dental-digital dysplasia: report of a case with spastic paraplegia

22 June 2018

1 reference

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Quantification of spatial inhomogeneity in conduction and initiation of reentrant atrial arrhythmias

22 June 2018

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A new mouse embryonic stem cell line with good germ line contribution and gene targeting frequency

22 June 2018

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Characterization of gap junction genes expressed in F9 embryonic carcinoma cells: molecular cloning of mouse connexin31 and -45 cDNAs

22 June 2018

1 reference

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Biophysics of gap junctions

22 June 2018

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Expression of Cx26, Cx32 AND Cx43 gap junction proteins in normal and neoplastic human tissues

22 June 2018

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Oculodentodigital dysplasia. Four new reports and a literature review

22 June 2018

1 reference

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Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia

22 June 2018

1 reference

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Site-specific recombination in human embryonic stem cells induced by cell-permeant Cre recombinase

30 October 2018

1 reference

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Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

30 October 2018

1 reference

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A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

30 October 2018

1 reference

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Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847779

Targeted expression of a dominant-negative N-cadherin in vivo delays peak bone mass and increases adipogenesis.

30 October 2018

1 reference

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Slow conduction and enhanced anisotropy increase the propensity for ventricular tachyarrhythmias in adult mice with induced deletion of connexin43.

30 October 2018

1 reference

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pH-dependent intramolecular binding and structure involving Cx43 cytoplasmic domains

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847779

Intercellular calcium signaling in astrocytes via ATP release through connexin hemichannels

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847779

Maternally expressed PGK-Cre transgene as a tool for early and uniform activation of the Cre site-specific recombinase

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847779

Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels

30 October 2018

1 reference

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Oculodentodigital dysplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2847779

A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

30 October 2018

1 reference

12 December 2020

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

1 reference

12 December 2020

General or cell type-specific deletion and replacement of connexin-coding DNA in the mouse

1 reference

12 December 2020

Up-regulation of connexin45 in heart failure

1 reference

12 December 2020

A family with oculodentodigital dysplasia

1 reference

12 December 2020

Immunochemical and electrophysiological characterization of murine connexin40 and -43 in mouse tissues and transfected human cells

1 reference

12 December 2020

Promotion of atrial fibrillation by heart failure in dogs: atrial remodeling of a different sort

1 reference

12 December 2020

A HEREDITARY SYNDROME: "DYSPLASIA OCULODENTODIGITALIS

1 reference

12 December 2020

Cardiomyocyte-restricted deletion of connexin43 during mouse development

1 reference

12 December 2020

Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDM329

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26 December 2019

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26 December 2019

PubMed publication ID

18003637

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