(Q37689002)

22 August 2017

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title

Gap junctions in inherited human disease (English)

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22 August 2017

2

Rolf Dermietzel

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22 August 2017

1

Georg Zoidl

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22 August 2017

7 February 2010

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22 August 2017

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22 August 2017

460

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22 August 2017

2

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22 August 2017

451-466

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https://scigraph.springernature.com/pub.10.1007/s00424-010-0789-1

22 August 2017

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cites work

Changes in gap junction distribution and connexin expression pattern during human fetal skin development

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0789-1

Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0789-1

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0789-1

Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0789-1

Expression of gap junction protein connexin43 in the adult rat cochlea: comparison with connexin26.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0789-1

Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0789-1

Functional analysis of selective interactions among rodent connexins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0789-1

Transport and Function of Cx26 Mutants Involved in Skin and Deafness Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0789-1

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

21 January 2018

1 reference

12 December 2020

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

1 reference

12 December 2020

Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

1 reference

12 December 2020

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1 reference

12 December 2020

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

1 reference

12 December 2020

HID and KID syndromes are associated with the same connexin 26 mutation

1 reference

12 December 2020

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

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12 December 2020

Connexins are critical for normal myelination in the CNS.

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12 December 2020

Structural and functional diversity of connexin genes in the mouse and human genome

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12 December 2020

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential

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12 December 2020

High Incidence of Cardiac Malformations in Connexin40-Deficient Mice

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12 December 2020

Switch in gap junction protein expression is associated with selective changes in junctional permeability during keratinocyte differentiation

1 reference

12 December 2020

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

1 reference

12 December 2020

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

1 reference

12 December 2020

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

1 reference

12 December 2020

Gap junctional coupling in lenses lacking alpha3 connexin

1 reference

12 December 2020

Expression of connexin 31 in the developing mouse cochlea.

1 reference

12 December 2020

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.

1 reference

12 December 2020

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13

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12 December 2020

Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes

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12 December 2020

Physiological properties of the normal lens

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12 December 2020

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

1 reference

12 December 2020

Hemichannels in cerebral ischemia

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12 December 2020

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

1 reference

12 December 2020

Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis

1 reference

12 December 2020

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.

1 reference

12 December 2020

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

1 reference

12 December 2020

Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.

1 reference

12 December 2020

Connexin32 and X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

1 reference

12 December 2020

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.

1 reference

12 December 2020

Regulation of connexin biosynthesis, assembly, gap junction formation, and removal

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12 December 2020

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1 reference

12 December 2020

The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures.

1 reference

12 December 2020

A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill

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12 December 2020

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment

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12 December 2020

Gap junctional connexins in the developing mouse cardiac conduction system

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12 December 2020

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

1 reference

12 December 2020

Site-directed mutations in the transmembrane domain M3 of human connexin37 alter channel conductance and gating

1 reference

12 December 2020

Functional expression of the murine connexin 36 gene coding for a neuron-specific gap junctional protein

1 reference

12 December 2020

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

1 reference

12 December 2020

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

1 reference

12 December 2020

Mutations in GJB6 cause hidrotic ectodermal dysplasia

1 reference

12 December 2020

Functional consequences of heterogeneous gap junction channel formation and its influence in health and disease

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12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations

1 reference

12 December 2020

Regulation of gap junctions by protein phosphorylation.

1 reference

12 December 2020

Cardiac gap junction channels show quantitative differences in selectivity

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12 December 2020

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.

1 reference

12 December 2020

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

1 reference

12 December 2020

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel

1 reference

12 December 2020

Molecular basis of voltage dependence of connexin channels: an integrative appraisal

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12 December 2020

Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43

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12 December 2020

Central nervous system abnormalities in oculodentodigital dysplasia

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12 December 2020

Opposite voltage gating polarities of two closely related connexins.

1 reference

12 December 2020

Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.

1 reference

12 December 2020

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

1 reference

12 December 2020

Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes

1 reference

12 December 2020

Genomic organization and alternative transcripts of the human Connexin40 gene.

1 reference

12 December 2020

Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations

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12 December 2020

Neurological manifestations of the oculodentodigital dysplasia syndrome

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12 December 2020

Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes

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12 December 2020

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

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12 December 2020

Modulation of brain hemichannels and gap junction channels by pro-inflammatory agents and their possible role in neurodegeneration

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12 December 2020

Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation

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12 December 2020

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

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12 December 2020

Cardiac intercellular communication: consequences of connexin distribution and diversity

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12 December 2020

Gap junctions and cochlear homeostasis

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12 December 2020

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

1 reference

12 December 2020

Mutation analysis of the GJB2 (connexin 26) gene in Egypt

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12 December 2020

Expression of connexin 30 in the developing mouse cochlea.

1 reference

12 December 2020

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

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12 December 2020

Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness

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12 December 2020

Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

1 reference

12 December 2020

Connexin channel permeability to cytoplasmic molecules

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12 December 2020

Ubiquitination of gap junction proteins

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12 December 2020

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

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12 December 2020

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

1 reference

12 December 2020

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

1 reference

12 December 2020

Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.

1 reference

12 December 2020

Connexin32 is a myelin-related protein in the PNS and CNS

1 reference

12 December 2020

Heteromeric connexons in lens gap junction channels

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12 December 2020

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

1 reference

12 December 2020

Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea

1 reference

12 December 2020

Beyond the gap: functions of unpaired connexon channels

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12 December 2020

Connexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerve

1 reference

12 December 2020

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

1 reference

12 December 2020

Gap junctional coupling in lenses from alpha(8) connexin knockout mice

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12 December 2020

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

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12 December 2020

The distribution of the fiber cell intrinsic membrane proteins MP20 and connexin46 in the bovine lens

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12 December 2020

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

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12 December 2020

Gap junction diseases of the skin

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12 December 2020

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1 reference

12 December 2020

The connexin turnover, an important modulating factor of the level of cell-to-cell junctional communication: comparison with other integral membrane proteins.

1 reference

12 December 2020

Coupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: Implications from normal and connexin32 knockout mice

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12 December 2020

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

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12 December 2020

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

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12 December 2020

Gap-junction channels dysfunction in deafness and hearing loss

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12 December 2020

Assignment of the human connexin 32 gene (GJB1) to band Xq13

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12 December 2020

The crystalline lens. A system networked by gap junctional intercellular communication

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12 December 2020

Cardiac connexins as candidate genes for idiopathic atrial fibrillation.

1 reference

12 December 2020

Connexin29 is highly expressed in cochlear Schwann cells, and it is required for the normal development and function of the auditory nerve of mice

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12 December 2020

Age- and myopathy-dependent changes in connexins of normal and cardiomyopathic Syrian hamster ventricular myocardium

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12 December 2020

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

1 reference

12 December 2020

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

12 December 2020

X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system

1 reference

12 December 2020

A novel connexin 30 mutation in Clouston syndrome

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12 December 2020

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

1 reference

12 December 2020

New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

Biophysical properties of the human cardiac gap junction channel

1 reference

12 December 2020

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

1 reference

12 December 2020

Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts.

1 reference

12 December 2020

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1 reference

12 December 2020

Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin

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12 December 2020

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

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12 December 2020

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

1 reference

12 December 2020

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

1 reference

12 December 2020

Regulation of connexin43 protein complexes by intracellular acidification

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12 December 2020

Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block

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12 December 2020

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

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12 December 2020

Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

1 reference

12 December 2020

Molecular determinants of electrical rectification of single channel conductance in gap junctions formed by connexins 26 and 32.

1 reference

12 December 2020

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

1 reference

12 December 2020

Connexin32-null mice develop demyelinating peripheral neuropathy.

1 reference

12 December 2020

Connexin mutations in X-linked Charcot-Marie-Tooth disease

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12 December 2020

Topography of mammalian connexins in human skin

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12 December 2020

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

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12 December 2020

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

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12 December 2020

Chemical gating of gap junction channels; roles of calcium, pH and calmodulin

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12 December 2020

Dynamic trafficking and delivery of connexons to the plasma membrane and accretion to gap junctions in living cells

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12 December 2020

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

1 reference

12 December 2020

Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness

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12 December 2020

The different appearance of the oculodentodigital dysplasia syndrome

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12 December 2020

Refined localization of human connexin32 gene locus, GJB1, to Xq13.1

1 reference

12 December 2020

Role of the carboxyl terminal of connexin43 in transjunctional fast voltage gating

1 reference

12 December 2020

Connexin32-containing gap junctions in Schwann cells at the internodal zone of partial myelin compaction and in Schmidt-Lanterman incisures

1 reference

12 December 2020

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

1 reference

12 December 2020

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

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12 December 2020

Autosomal dominant simple microphthalmos

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12 December 2020

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

1 reference

12 December 2020

pH-dependent intramolecular binding and structure involving Cx43 cytoplasmic domains

1 reference

12 December 2020

Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear

1 reference

12 December 2020

Transport and function of cx26 mutants involved in skin and deafness disorders.

1 reference

12 December 2020

Functional connexin “hemichannels”: A critical appraisal

1 reference

12 December 2020

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

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12 December 2020

Protein phosphatase modulation of the intercellular junctional communication: importance in cardiac myocytes

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12 December 2020

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly

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12 December 2020

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

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12 December 2020

Life cycle of connexins in health and disease

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12 December 2020

Connexin levels regulate keratinocyte differentiation in the epidermis

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12 December 2020

Unique expression of connexins in the human cochlea.

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12 December 2020

Pathways and control of connexin oligomerization.

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12 December 2020

Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants

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12 December 2020

Unique and redundant connexin contributions to lens development

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12 December 2020

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

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12 December 2020

A clinical review of Charcot-Marie-Tooth

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12 December 2020

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

1 reference

12 December 2020

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

1 reference

12 December 2020

10.1007/S00424-010-0789-1

Identifiers

DOI

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22 August 2017

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PubMed ID

20140684