Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome. (Q37935973)

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13 February 2020

review article

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title

Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome (English)

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13 February 2020

1 reference

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13 February 2020

Noah A Levit

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13 February 2020

Gulistan Mese

series ordinal

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13 February 2020

Mena-George R Basaly

series ordinal

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13 February 2020

language of work or name

English

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publication date

10 September 2011

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Biochimica et Biophysica Acta

13 February 2020

published in

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13 February 2020

volume

1818

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13 February 2020

issue

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13 February 2020

page(s)

2014-2019

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Cell membrane permeabilization via connexin hemichannels in living and dying cells

13 February 2020

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1 reference

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

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

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Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

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6 September 2017

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

6 September 2017

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A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.

6 September 2017

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Gap junctions and cochlear homeostasis

6 September 2017

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

6 September 2017

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6 September 2017

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S-nitrosylation and permeation through connexin 43 hemichannels in astrocytes: induction by oxidant stress and reversal by reducing agents

6 September 2017

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From deafness genes to hearing mechanisms: harmony and counterpoint

6 September 2017

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The role of gap junctions in health and disease

6 September 2017

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Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions

6 September 2017

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Connexin-based gap junction hemichannels: gating mechanisms

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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New roles for astrocytes: Gap junction hemichannels have something to communicate

6 September 2017

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THE OCCURRENCE OF A SUBUNIT PATTERN IN THE UNIT MEMBRANES OF CLUB ENDINGS IN MAUTHNER CELL SYNAPSES IN GOLDFISH BRAINS

6 September 2017

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6 September 2017

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6 September 2017

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

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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

6 September 2017

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Hexagonal array of subunits in intercellular junctions of the mouse heart and liver

6 September 2017

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6 September 2017

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Cell-to-cell communication within intact human skin

6 September 2017

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

6 September 2017

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

6 September 2017

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14 September 2017

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14 September 2017

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14 September 2017

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Size and selectivity of gap junction channels formed from different connexins

28 September 2017

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Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness

28 September 2017

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

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23 June 2018

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23 June 2018

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23 June 2018

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23 June 2018

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

1 September 2018

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1 September 2018

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

1 September 2018

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2-aminoethoxydiphenyl borate directly inhibits channels composed of connexin26 and/or connexin32.

1 September 2018

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Severe neuropathy with leaky connexin32 hemichannels

1 September 2018

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

1 September 2018

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A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad

1 September 2018

1 reference

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Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

1 September 2018

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LOW-RESISTANCE COUPLING BETWEEN GLAND CELLS. SOME OBSERVATIONS ON INTERCELLULAR CONTACT MEMBRANES AND INTERCELLULAR SPACE.

1 September 2018

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Closure of gap junction channels by arylaminobenzoates

1 September 2018

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Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness

1 September 2018

1 reference

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Connexin 26 expression and mutation analysis in epidermal disease

1 September 2018

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Inhibition of gap junction hemichannels by chloride channel blockers

1 September 2018

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Intercellular calcium signaling in astrocytes via ATP release through connexin hemichannels

1 September 2018

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1 September 2018

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Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

1 September 2018

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Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

1 September 2018

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Functional characteristics of skate connexin35, a member of the gamma subfamily of connexins expressed in the vertebrate retina.

1 September 2018

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Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

1 September 2018

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

1 September 2018

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

3 December 2018

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Patterns of junctional communication in skin

3 December 2018

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12 December 2020

Evidence for hemi‐gap junctional channels in isolated horizontal cells of the skate retina

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12 December 2020

Perturbation in connexin 43 and connexin 26 gap-junction expression in mouse skin hyperplasia and neoplasia

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12 December 2020

Identification of aberrantly regulated genes in diseased skin using the cDNA differential display technique

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12 December 2020

Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules

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12 December 2020

Connexin disorders of the skin

1 reference

12 December 2020

Dysfunctions of the diffusional membrane pathways mediated by hemichannels in inherited and acquired human diseases

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12 December 2020

Selection for deafness?

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

10.1016/J.BBAMEM.2011.09.003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21933663%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21933663%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

21933663

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21933663%20AND%20SRC:MED&resulttype=core&format=json