Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
about
cDNA cloning and characterization of sciellin, a LIM domain protein of the keratinocyte cornified envelopeIdentification of human epidermal differentiation complex (EDC)-encoded genes by subtractive hybridization of entire YACs to a gridded keratinocyte cDNA libraryLoricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion babyA recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndromeHornerin, a novel profilaggrin-like protein and differentiation-specific marker isolated from mouse skinLessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope proteinDefective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43.Connexin mutations in skin disease and hearing loss.Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma.Inherited ichthyoses/generalized Mendelian disorders of cornification.Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disordersConnexin-26 mutations in deafness and skin disease.Collodion baby and loricrin keratoderma: a case report and mutation analysis.Overview of skin diseases linked to connexin gene mutations.Pseudoainhum in a patient with tuberous sclerosis complex: a case report and review of the literature.Inherited ichthyosis: Non-syndromic forms.Expression of wild-type, but not mutant, loricrin causes programmed cell death in HaCaT keratinocytes.Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma.Embryonic AP1 Transcription Factor Deficiency Causes a Collodion Baby-Like PhenotypeEpidermal differentiation and squamous metaplasia: from stem cell to cell death.Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family.Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.An Indian Case of Keratoderma Hereditarium Mutilans (Vohwinkel's Syndrome) Associated with Ichthyosiform DermatosisDisorders of Keratinization
P2860
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P2860
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
description
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1997
@ast
im Oktober 1997 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: October 1997)
@en
vedecký článok (publikovaný 1997-10)
@sk
vědecký článek publikovaný v roce 1997
@cs
wetenschappelijk artikel (gepubliceerd in 1997-10)
@nl
наукова стаття, опублікована в жовтні 1997
@uk
مقالة علمية (نشرت في أكتوبر 1997)
@ar
name
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@ast
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@en
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@nl
type
label
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@ast
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@en
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@nl
prefLabel
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@ast
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@en
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@nl
P2093
P1476
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
@en
P2093
A Ishida-Yamamoto
A Stephenson
P J Dopping-Hepenstal
P2888
P304
P356
10.1111/1523-1747.EP12337534
P407
P577
1997-10-01T00:00:00Z
P6179
1035465102