The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope
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 syndromeLessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope proteinGene targeting of envoplakin, a cytoskeletal linker protein and precursor of the epidermal cornified envelopeConnexin mutations in skin disease and hearing loss.Local burn injury impairs epithelial permeability and antimicrobial peptide barrier function in distal unburned skinSuppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.Epithelial barrier function: assembly and structural features of the cornified cell envelope.Progressive symmetrical erythrokeratoderma - response to topical calcipotriol.Progressive symmetric erythrokeratodermia with delayed intellectual milestones and convulsions.Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma.The complexity and redundancy of epithelial barrier functionCollodion baby and loricrin keratoderma: a case report and mutation analysis.Pseudoainhum in a patient with tuberous sclerosis complex: a case report and review of the literature.Inherited ichthyosis: Non-syndromic forms.Erythrokeratodermia variabilis et progressiva.TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes.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.Progressive Symmetric Erythrokeratoderma Having Overlapping Features With Erythrokeratoderma Variabilis and Lesional Hypertrichosis: Is Nomenclature "Erythrokeratoderma Variabilis Progressiva" More Appropriate?Nicotinic acetylcholine receptor stimulation impairs epidermal permeability barrier function and recovery and modulates cornified envelope proteinsNeutral lipid storage disease with unusual presentation: report of three cases.Age-related changes in the composition of the cornified envelope in human skin.Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.A case of erythrokeratoderma variabilis without mutations in connexin 31.Disorders of Keratinization
P2860
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P2860
The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
The molecular pathology of pro ...... in the cornified cell envelope
@ast
The molecular pathology of pro ...... in the cornified cell envelope
@en
The molecular pathology of pro ...... in the cornified cell envelope
@nl
type
label
The molecular pathology of pro ...... in the cornified cell envelope
@ast
The molecular pathology of pro ...... in the cornified cell envelope
@en
The molecular pathology of pro ...... in the cornified cell envelope
@nl
prefLabel
The molecular pathology of pro ...... in the cornified cell envelope
@ast
The molecular pathology of pro ...... in the cornified cell envelope
@en
The molecular pathology of pro ...... in the cornified cell envelope
@nl
P2093
P2860
P356
P1476
The molecular pathology of pro ...... in the cornified cell envelope
@en
P2093
A Ishida-Yamamoto
A M Christiano
J A McGrath
R A Friedman
P2860
P356
10.1086/515518
P407
P577
1997-09-01T00:00:00Z