A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome
about
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin diseaseThe human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' familyGenomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.Positive selection, relaxation, and acceleration in the evolution of the human and chimp genome.Global expression profiling in atopic eczema reveals reciprocal expression of inflammatory and lipid genes.Transglutaminase regulation of cell function.Acral peeling skin syndrome in two East-African siblings: case reportAnalysis of candidate colitis genes in the Gdac1 locus of mice deficient in glutathione peroxidase-1 and -2.Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitisWhole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.Cardiac expression of the Drosophila Transglutaminase (CG7356) gene is directly controlled by myocyte enhancer factor-2.Peeling skin diseases: 21 cases from Turkey and a review of the literature.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Epidermal barrier disorders and corneodesmosome defects.Transglutaminase as a therapeutic target for celiac disease.Novel TGM5 mutations in acral peeling skin syndrome.A Case of Peeling Skin SyndromeAcral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boyLuteolin-7-glucoside inhibits IL-22/STAT3 pathway, reducing proliferation, acanthosis, and inflammation in keratinocytes and in mouse psoriatic modelThe p63 target HBP1 is required for skin differentiation and stratification.A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN.Instrument for scoring clinical outcome of research for epidermolysis bullosa: a consensus-generated clinical research tool.Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.Transglutaminase 2 mediates UV-induced skin inflammation by enhancing inflammatory cytokine production.Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.Inflammatory peeling skin syndrome caused a novel mutation in CDSN.Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions.Disorders of Keratinization
P2860
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P2860
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A homozygous missense mutation ...... es acral peeling skin syndrome
@ast
A homozygous missense mutation ...... es acral peeling skin syndrome
@en
A homozygous missense mutation ...... es acral peeling skin syndrome
@nl
type
label
A homozygous missense mutation ...... es acral peeling skin syndrome
@ast
A homozygous missense mutation ...... es acral peeling skin syndrome
@en
A homozygous missense mutation ...... es acral peeling skin syndrome
@nl
prefLabel
A homozygous missense mutation ...... es acral peeling skin syndrome
@ast
A homozygous missense mutation ...... es acral peeling skin syndrome
@en
A homozygous missense mutation ...... es acral peeling skin syndrome
@nl
P2093
P2860
P50
P3181
P356
P1476
A homozygous missense mutation ...... es acral peeling skin syndrome
@en
P2093
Eleonora Candi
Gerry Melino
Jaap van der Velden
Michel van Geel
Peter M Steijlen
Susan M Morley
P2860
P304
P3181
P356
10.1086/497707
P407
P577
2005-10-11T00:00:00Z