Connexin mutations in skin disease and hearing loss. - Wikidata - awgldk - TriplyDB

Connexin mutations in skin disease and hearing loss.

Connexin mutations in skin disease and hearing loss.

http://www.wikidata.org/entity/Q34141214

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Posttranslational modifications in connexins and pannexins Gap junctions Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans Expression of multiple connexins in the rat epididymis indicates a complex regulation of gap junctional communication Gap-junction channels dysfunction in deafness and hearing loss.Non-syndromic autosomal-dominant deafness.The molecular genetics of the genodermatoses: progress to date and future directions.Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule Biological role of connexin intercellular channels and hemichannels Redefining the structure of the mouse connexin43 gene: selective promoter usage and alternative splicing mechanisms yield transcripts with different translational efficiencies.Do cell junction protein mutations cause an airway phenotype in mice or humans?Cell-cell connectivity: desmosomes and disease.Modulation of gap junction channels and hemichannels by growth factors.GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.Erythrokeratodermia variabilis et progressiva.Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection.Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.Transport and function of cx26 mutants involved in skin and deafness disorders.Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations.Impaired trafficking of connexins in androgen-independent human prostate cancer cell lines and its mitigation by alpha-catenin.Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.Detection of the GJB2 Mutation in Iranian Children with Hearing Loss Treated with Cochlear Implantation EKV mutant connexin 31 associated cell death is mediated by ER stress.Phenotypes of two Dutch DFNA3 families with mutations in GJB2.The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.Late decompensation after a prolonged lucid interval in chronic posterior fossa extradural hematoma.Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair.Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.An unusual mucocutaneous syndrome with sensorineural deafness due to connexin 26 mutations.p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response.Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.Connexin 26 expression and mutation analysis in epidermal disease.Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

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P2860

Connexin mutations in skin disease and hearing loss.

http://www.wikidata.org/entity/Q34141214

description

2001 nî lūn-bûn

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2001 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2001 թվականի հունվարին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

Connexin mutations in skin disease and hearing loss.

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Connexin mutations in skin disease and hearing loss.

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Connexin mutations in skin disease and hearing loss.

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type

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Connexin mutations in skin disease and hearing loss.

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Connexin mutations in skin disease and hearing loss.

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Connexin mutations in skin disease and hearing loss.

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Connexin mutations in skin disease and hearing loss.

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Connexin mutations in skin disease and hearing loss.

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Connexin mutations in skin disease and hearing loss.

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American Journal of Human Genetics

P1476

Connexin mutations in skin disease and hearing loss.

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P2093

D P Kelsell

http://www.w3.org/2001/XMLSchema#string

M J Houseman

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W L Di

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P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein

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

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Induction of tight junctions in human connexin 32 (hCx32)-transfected mouse hepatocytes: connexin 32 interacts with occludin

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

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

Mutations in GJB6 cause hidrotic ectodermal dysplasia

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3

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68

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