(Q34398416)

1 August 2017

title

Syndromic and non-syndromic disease-linked Cx43 mutations (English)

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1 August 2017

Dale W Laird

1

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language of work or name

English

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publication date

14 January 2014

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1 August 2017

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1 August 2017

volume

588

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1 August 2017

issue

8

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1 August 2017

page(s)

1339-1348

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Connexin channel permeability to cytoplasmic molecules

1 August 2017

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Connexins, connexons, and intercellular communication

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Cx43 has distinct mobility within plasma-membrane domains, indicative of progressive formation of gap-junction plaques.

21 January 2018

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Connexin43 phosphorylation in brain, cardiac, endothelial and epithelial tissues

21 January 2018

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Connexin43 phosphorylation: structural changes and biological effects

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Regulation of connexin43 function by activated tyrosine protein kinases

21 January 2018

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Gap junction turnover, intracellular trafficking, and phosphorylation of connexin43 in brefeldin A-treated rat mammary tumor cells

21 January 2018

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The gap junction proteome and its relationship to disease

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Super-resolution fluorescence microscopy of the cardiac connexome reveals plakophilin-2 inside the connexin43 plaque

21 January 2018

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Proteins and mechanisms regulating gap-junction assembly, internalization, and degradation

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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

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Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly

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21 January 2018

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A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome

21 January 2018

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A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia

21 January 2018

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Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death

21 January 2018

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21 January 2018

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Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

21 January 2018

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The N-terminal half of the connexin protein contains the core elements of the pore and voltage gates

21 January 2018

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N-terminal residues in Cx43 and Cx40 determine physiological properties of gap junction channels, but do not influence heteromeric assembly with each other or with Cx26.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43.

21 January 2018

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Biological and biophysical properties of vascular connexin channels

21 January 2018

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21 January 2018

1 reference

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Structure of connexin43 and its regulation by pHi.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia

21 January 2018

1 reference

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Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

The severity of mammary gland developmental defects is linked to the overall functional status of Cx43 as revealed by genetically modified mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia

21 January 2018

1 reference

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Myogenic bladder defects in mouse models of human oculodentodigital dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Connexin levels regulate keratinocyte differentiation in the epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

21 January 2018

1 reference

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Structure of the connexin 26 gap junction channel at 3.5 A resolution

21 January 2018

1 reference

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Cardiac malformation in neonatal mice lacking connexin43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Cx40 and Cx43 expression ratio influences heteromeric/ heterotypic gap junction channel properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Connexin43 and connexin45 form heteromeric gap junction channels in which individual components determine permeability and regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Connexin43 modulation of osteoblast/osteocyte apoptosis: a potential therapeutic target?

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Connexin43 mediates direct intercellular communication in human osteoblastic cell networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Connexin46 is retained as monomers in a trans-Golgi compartment of osteoblastic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

The G60S connexin 43 mutation activates the osteoblast lineage and results in a resorption-stimulating bone matrix and abrogation of old-age-related bone loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Fate of connexin43 in cardiac tissue harbouring a disease-linked connexin43 mutant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Decidual angiogenesis and placental orientation are altered in mice heterozygous for a dominant loss-of-function Gja1 (connexin43) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Milk secretion and ejection are impaired in the mammary gland of mice harboring a Cx43 mutant while expression and localization of tight and adherens junction proteins remain unchanged

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

A case of erythrokeratoderma variabilis: loosened gap junctions in the acanthotic epidermis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

The antiarrhythmic peptide rotigaptide (ZP123) increases gap junction intercellular communication in cardiac myocytes and HeLa cells expressing connexin 43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

The antiarrhythmic dipeptide ZP1609 (danegaptide) when given at reperfusion reduces myocardial infarct size in pigs

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2013.12.022

10.1016/J.FEBSLET.2013.12.022

21 January 2018

Identifiers

DOI

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1 August 2017

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