Mutations of keratinocyte transglutaminase in lamellar ichthyosis
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cDNA cloning and characterization of sciellin, a LIM domain protein of the keratinocyte cornified envelopeMutations in CERS3 cause autosomal recessive congenital ichthyosis in humansPNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humansEnvoplakin, a novel precursor of the cornified envelope that has homology to desmoplakinBiochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope proteinIsolation of a cDNA encoding a novel member of the transglutaminase gene family from human keratinocytes. Detection and identification of transglutaminase gene products based on reverse transcription-polymerase chain reaction with degenerate primersMutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.Tissue specific and androgen-regulated expression of human prostate-specific transglutaminaseMutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndromeA homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndromeGenotype/phenotype correlation in autosomal recessive lamellar ichthyosisTwo new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosisPathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismRetinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated populationPeriplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakinA distal region of the human TGM1 promoter is required for expression in transgenic mice and cultured keratinocytesEpidermal transglutaminase (TGase 3) is required for proper hair development, but not the formation of the epidermal barrierIdentification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosisThe human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' familyThe eta isoform of protein kinase C mediates transcriptional activation of the human transglutaminase 1 geneHornerin, 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 proteinThe Proximal Promoter of the Human Transglutaminase 3 GeneNovel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.Epoxyeicosatrienoic acids activate transglutaminases in situ and induce cornification of epidermal keratinocytes.Identification of preferred substrate sequences for transglutaminase 1--development of a novel peptide that can efficiently detect cross-linking enzyme activity in the skin.Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes.Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles.Gene therapy and dermatology: more than just skin deep.Transglutaminase regulation of cell function.Mapping complex traits in diseases of the hair and skin.Protein crosslinking in assembly and remodelling of extracellular matrices: the role of transglutaminases.Gene targeting of envoplakin, a cytoskeletal linker protein and precursor of the epidermal cornified envelopeIdentification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.
P2860
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P2860
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@ast
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@en
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@nl
type
label
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@ast
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@en
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@nl
prefLabel
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@ast
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@en
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@nl
P2093
P3181
P356
P1433
P1476
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
@en
P2093
D F Schorderet
K Bernasconi
S Lautenschlager
S P Lavrijsen
P2860
P3181
P356
10.1126/SCIENCE.7824952
P407
P577
1995-01-27T00:00:00Z