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

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

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

http://www.wikidata.org/entity/Q35764888

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Life cycle of connexins in health and disease A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia Autosomal recessive nonsyndromic deafness genes: a review The role of connexins in ear and skin physiology - functional insights from disease-associated mutations Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss Structural organization of intercellular channels II. Amino terminal domain of the connexins: sequence, functional roles, and structure Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.New described dermatological disorders The contribution of electrical synapses to field potential oscillations in the hippocampal formation Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome Connexin 26 mutations in autosomal recessive deafness disorders: a review The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome.Gap-junction channels dysfunction in deafness and hearing loss.Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.Gap junctions and blood-tissue barriers Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome A novel missense mutation in the connexin30 causes nonsyndromic hearing loss.Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy Immunoprofiles of 11 biomarkers using tissue microarrays identify prognostic subgroups in colorectal cancer.Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50 The molecular genetics of the genodermatoses: progress to date and future directions.Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis Connexin gene pathology.Spontaneous cyclization of polypeptides with a penultimate Asp, Asn or isoAsp at the N-terminus and implications for cleavage by aminopeptidase.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.Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.Connexinopathies: a structural and functional glimpse Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.Erythrokeratodermas: a classification in a state of flux?Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.[Keratitis-Ichthyosis-Deafness syndrome (KID) in a Togolese child born from a consanguineous marriage].Gap junctional communication in morphogenesis.Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F.

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P2860

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

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American Journal of Human Genetics

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Missense mutations in GJB2 enc ...... -ichthyosis-deafness syndrome.

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Fatima Rouan

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Gabriele Richard

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John J DiGiovanna

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Laura Russell

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Markku Ryynänen

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Nkecha Brown

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Pil Chung

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Sherri J Bale

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P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

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

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Regeneration of rabbit cornea following excimer laser photorefractive keratectomy: a study on gap junctions, epithelial junctions and epidermal growth factor receptor expression in correlation with cell proliferation.

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

Cell-free synthesis and assembly of connexins into functional gap junction membrane channels

Gap junctions in cells of the immune system: structure, regulation and possible functional roles.

Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32

Connexin mutations in skin disease and hearing loss.

Connexin disorders of the skin.

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1341-1348

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10.1086/339986

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5

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Ethylin Wang Jabs

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2002-03-22T00:00:00Z

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11451005

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11912510

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447609

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