about
A nonsense mutation in MSX1 causes Witkop syndromeConnexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasiaAutosomal recessive nonsyndromic deafness genes: a reviewIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24The role of connexins in ear and skin physiology - functional insights from disease-associated mutationsA large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.Hereditary non-syndromic sensorineural hearing loss: transforming silence to soundGap junctions and blood-tissue barriersA novel missense mutation in the connexin30 causes nonsyndromic hearing loss.Ectodermal dysplasias: a new clinical-genetic classificationMutations in connexin genes and disease.Connexin mutations in skin disease and hearing loss.Early disruption of glial communication via connexin gap junction in multiple sclerosis, Baló's disease and neuromyelitis optica.Human connexin disorders of the skin.Non-syndromic autosomal-dominant deafness.Towards a new classification of ectodermal dysplasias.Connexin gene pathology.Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossMissense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.Gating of connexin 43 gap junctions by a cytoplasmic loop calmodulin binding domain.Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.To grow or not to grow: hair morphogenesis and human genetic hair disordersGenetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.Do cell junction protein mutations cause an airway phenotype in mice or humans?Key functions for gap junctions in skin and hearing.Congenital hair loss disorders: rare, but not too rare.GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.Overview of skin diseases linked to connexin gene mutations.Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Connexin channels in congenital skin disorders.Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".Human diseases associated with connexin mutations.A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiation.Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in miceEctodermal Dysplasia: A Case Report.Clouston syndrome: first case in Russia.
P2860
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P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@ast
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@en
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@nl
type
label
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@ast
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@en
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@nl
prefLabel
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@ast
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@en
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in GJB6 cause hidrotic ectodermal dysplasia
@en
P2093
A L Christianson
C Blanchet-Bardon
D P Kelsell
E Callouet
G A Rouleau
G Lemaître
G Munhoz Essenfelder
P2860
P2888
P356
10.1038/79851
P407
P577
2000-10-01T00:00:00Z
P5875
P6179
1018407454