Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss (Q27002992)

Vytas K. Verselis

series ordinal

2

1 reference

language of work or name

1 reference

2014

1 reference

Frontiers in Cellular Neuroscience

published in

1 reference

volume

8

1 reference

page(s)

354

1 reference

The role of connexins in ear and skin physiology - functional insights from disease-associated mutations

cites work

1 reference

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Autosomal recessive nonsyndromic deafness genes: a review

21 March 2017

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Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice

21 March 2017

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Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response

21 March 2017

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

21 March 2017

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 March 2017

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Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

21 March 2017

1 reference

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Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

21 March 2017

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Altered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Hearing is normal without connexin30

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

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

21 March 2017

1 reference

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Connexin 26 mutations in autosomal recessive deafness disorders: a review

21 March 2017

1 reference

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Expression of the gap-junction connexins 26 and 30 in the rat cochlea

21 March 2017

1 reference

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Assembly of the cochlear gap junction macromolecular complex requires connexin 26.

21 March 2017

1 reference

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Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals

21 March 2017

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Reduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisition

21 March 2017

1 reference

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Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y).

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Keratitis, ichthyosis, and deafness syndrome: a review of infectious and neoplastic complications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

ATP-dependent intercellular Ca2+ signaling in the developing cochlea: facts, fantasies and perspectives.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Cell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing loss

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Ion flow in stria vascularis and the production and regulation of cochlear endolymph and the endolymphatic potential

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Cell membrane permeabilization via connexin hemichannels in living and dying cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Connexin-26 mutations in deafness and skin disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Potassium ion movement in the inner ear: insights from genetic disease and mouse models

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Metabolic inhibition increases activity of connexin-32 hemichannels permeable to Ca2+ in transfected HeLa cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Conformational changes in a pore-forming region underlie voltage-dependent "loop gating" of an unapposed connexin hemichannel

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Targeted connexin26 ablation arrests postnatal development of the organ of Corti

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Loop gating of connexin hemichannels involves movement of pore-lining residues in the first extracellular loop domain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Divalent cations regulate connexin hemichannels by modulating intrinsic voltage-dependent gating

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Connexin hemichannel composition determines the FGF-1-induced membrane permeability and free [Ca2+]i responses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

ATP activates P2x receptors and requires extracellular Ca(++) participation to modify outer hair cell nonlinear capacitance

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Functional significance of channels and transporters expressed in the inner ear and kidney

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Distinct and gradient distributions of connexin26 and connexin30 in the cochlear sensory epithelium of guinea pigs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Regulation of connexin hemichannels by monovalent cations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Gap junctional hemichannel-mediated ATP release and hearing controls in the inner ear

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Gap junction channel gating

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Metabolic inhibition induces opening of unapposed connexin 43 gap junction hemichannels and reduces gap junctional communication in cortical astrocytes in culture

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Reversal of the gating polarity of gap junctions by negative charge substitutions in the N-terminus of connexin 32

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Rapid and direct effects of pH on connexins revealed by the connexin46 hemichannel preparation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Connexin-43 hemichannels opened by metabolic inhibition

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Localization of a voltage gate in connexin46 gap junction hemichannels

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Identification of a pore lining segment in gap junction hemichannels.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Voltage gating and permeation in a gap junction hemichannel

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Properties of a nonjunctional current expressed from a rat connexin46 cDNA in Xenopus oocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Biophysical properties of gap junction channels formed by mouse connexin40 in induced pairs of transfected human HeLa cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Kinetic properties of a voltage-dependent junctional conductance

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Equilibrium properties of a voltage-dependent junctional conductance.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Hemichannel-mediated inositol 1,4,5-trisphosphate (IP3) release in the cochlea: a novel mechanism of IP3 intercellular signaling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Deafness induced by Connexin 26 (GJB2) deficiency is not determined by endocochlear potential (EP) reduction but is associated with cochlear developmental disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Cellular characterization of Connexin26 and Connnexin30 expression in the cochlear lateral wall

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Intracellular calcium changes trigger connexin 32 hemichannel opening

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Gap-junctional hemichannels are activated by ATP depletion in human renal proximal tubule cells

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

Opposite voltage gating polarities of two closely related connexins

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4209889

The mechanism underlying maintenance of the endocochlear potential by the K+ transport system in fibrocytes of the inner ear.

31 May 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Histidine suppresses zinc modulation of connexin hemichannels

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Dynamic changes in connexin expression correlate with key events in the wound healing process.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Evolutionary selection pressure and family relationships among connexin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Connexin32 can restore hearing in connexin26 deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Ca(2+) regulation of connexin 43 hemichannels in C6 glioma and glial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Properties of connexin26 hemichannels expressed in Xenopus oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

The origin of spontaneous activity in the developing auditory system.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFNCEL.2014.00354

Connexin disorders of the skin

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25386120

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/25386120

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The connexins and their family tree

1 reference

https://pubmed.ncbi.nlm.nih.gov/25386120

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FNCEL.2014.00354

1 reference

1 reference

1 reference

PubMed publication ID

25386120

1 reference