Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
about
Diseases associated with leaky hemichannelsAberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing lossThe Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndromeTemporal bone abnormalities in children with GJB2 mutationsRevertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesisBiological role of connexin intercellular channels and hemichannelsThe D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions.Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.Connexin-26 mutations in deafness and skin disease.Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients.GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating.Connexin channel and its role in diabetic retinopathy.Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine.Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.Determination of the carrier frequencies of selected GJB2 mutations in the Korean population.Developmental abnormalities in supporting cell phalangeal processes and cytoskeleton in the GJB2 knockdown mouse model.Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form.Vestibular function of patients with profound deafness related to GJB2 mutation.
P2860
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P2860
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Cochleosaccular dysplasia asso ...... -ichthyosis-deafness syndrome.
@en
type
label
Cochleosaccular dysplasia asso ...... -ichthyosis-deafness syndrome.
@en
prefLabel
Cochleosaccular dysplasia asso ...... -ichthyosis-deafness syndrome.
@en
P2093
P2860
P1433
P1476
Cochleosaccular dysplasia asso ...... -ichthyosis-deafness syndrome.
@en
P2093
Andrew J Griffith
Daniel I Wasserman
Gabriele Richard
Hong-Joon Park
Joe C Adams
Joseph B Nadol
Laura J Russell
Saumil N Merchant
Shannon P Pryor
Yandan Yang
P2860
P304
P356
10.1097/01.MLG.0000224549.75161.CA
P407
P577
2006-08-01T00:00:00Z