Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
about
Connexins: a myriad of functions extending beyond assembly of gap junction channelsLife cycle of connexins in health and diseasePathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell deathErythrokeratodermas: a classification in a state of flux?Progressive symmetric erythrokeratodermia with delayed intellectual milestones and convulsions.Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50The N terminus of connexin37 contains an alpha-helix that is required for channel function.An intact connexin N-terminus is required for function but not gap junction formationConnexin43 phosphorylation: structural changes and biological effects.Systemic retinoids in the management of ichthyoses and related skin types.Do cell junction protein mutations cause an airway phenotype in mice or humans?Key functions for gap junctions in skin and hearing.Overview of skin diseases linked to connexin gene mutations.Connexin channels in congenital skin disorders.Erythrokeratodermia variabilis et progressiva.Human diseases associated with connexin mutations.N-terminal residues in Cx43 and Cx40 determine physiological properties of gap junction channels, but do not influence heteromeric assembly with each other or with Cx26.Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct.Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment.[Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins].Modulating secreted components of tumor microenvironment: A masterstroke in tumor therapeutics.A case of erythrokeratoderma variabilis: loosened gap junctions in the acanthotic epidermis.Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis.Disorders of KeratinizationA new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis
P2860
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P2860
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Genetic heterogeneity in eryth ...... notype-phenotype correlations.
@ast
Genetic heterogeneity in eryth ...... notype-phenotype correlations.
@en
Genetic heterogeneity in eryth ...... ions in the connexin gene GJB4
@nl
type
label
Genetic heterogeneity in eryth ...... notype-phenotype correlations.
@ast
Genetic heterogeneity in eryth ...... notype-phenotype correlations.
@en
Genetic heterogeneity in eryth ...... ions in the connexin gene GJB4
@nl
prefLabel
Genetic heterogeneity in eryth ...... notype-phenotype correlations.
@ast
Genetic heterogeneity in eryth ...... notype-phenotype correlations.
@en
Genetic heterogeneity in eryth ...... ions in the connexin gene GJB4
@nl
P2093
P1476
Genetic heterogeneity in eryth ...... notype-phenotype correlations.
@en
P2093
Carmen Campanelli
Emilia Bijlsma
Fatima Rouan
Gabriele Richard
Jan-Gerrit Van der Schroeff
John G Compton
John J DiGiovanna
Kenneth E Greer
Lawrence F Eichenfield
Nkecha Brown
P304
P356
10.1046/J.1523-1747.2003.12080.X
P407
P50
P577
2003-04-01T00:00:00Z
P5875
P6179
1047193481