Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.
about
The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' familyLessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope proteinNovel 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-1Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.Identification of preferred substrate sequences for transglutaminase 1--development of a novel peptide that can efficiently detect cross-linking enzyme activity in the skin.A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis.Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma.Involvement of transglutaminase in ex vivo maturation of cornified envelopes in the stratum corneum.Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.Transient expression of transglutaminase C during prenatal development of human muscles.Identification of immature cornified envelopes in the barrier-impaired epidermis by characterization of their hydrophobicity and antigenicities of the components.
P2860
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P2860
Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.
description
1997 nî lūn-bûn
@nan
1997 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի օգոստոսին 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
Consequences of seven novel mu ...... keratinocyte transglutaminase.
@ast
Consequences of seven novel mu ...... keratinocyte transglutaminase.
@en
type
label
Consequences of seven novel mu ...... keratinocyte transglutaminase.
@ast
Consequences of seven novel mu ...... keratinocyte transglutaminase.
@en
prefLabel
Consequences of seven novel mu ...... keratinocyte transglutaminase.
@ast
Consequences of seven novel mu ...... keratinocyte transglutaminase.
@en
P2093
P2860
P356
P1476
Consequences of seven novel mu ...... keratinocyte transglutaminase
@en
P2093
P2860
P304
21018-21026
P356
10.1074/JBC.272.34.21018
P407
P577
1997-08-01T00:00:00Z