Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
about
Pemphigus vulgaris antibody identifies pemphaxin. A novel keratinocyte annexin-like molecule binding acetylcholineMutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hairMutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathyThe desmosomeRecent advances in understanding ichthyosis pathogenesisGenotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1Genetic bases of arrhythmogenic right ventricular CardiomyopathyPlakins: goliaths that link cell junctions and the cytoskeletonLoss of desmoplakin tail causes lethal acantholytic epidermolysis bullosaMechanistic basis of desmosome-targeted diseasesLoss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndromeGenome-wide association study identifies multiple susceptibility loci for pulmonary fibrosisA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.Targetting of desmoglein 1 in inherited and acquired skin diseases.Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 geneSearching for candidate genes in the new millennium.Keratinocyte adhesion and the missing link: from Dowling-Meara to Hay-Wells. St John's Hospital Dermatological Society Annual Oration 2000.Desmosomes: structure and function in normal and diseased epidermis.Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalitiesInsights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosaHinged plakin domains provide specialized degrees of articulation in envoplakin, periplakin and desmoplakin.Structure of the Intermediate Filament-Binding Region of Desmoplakin.Molecular abnormalities of the desmosomal protein desmoplakin in human disease.Inherited disorders of desmosomes.Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakinDesmoplakin assembly dynamics in four dimensions: multiple phases differentially regulated by intermediate filaments and actin.Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.The desmosome and pemphigus.Desmosomes: just cell adhesion or is there more?Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Desmosomal genodermatoses.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.Desmosomes in the heart: a review of clinical and mechanistic analyses.Inherited desmosomal disorders.Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.Palmoplantar keratodermas: clinical and genetic aspects.Pathophysiology of the Desmo-Adhesome.Identification and characterization of DSPIa, a novel isoform of human desmoplakin.Linear dermatoses over the hand and foot.
P2860
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P2860
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@ast
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@en
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@nl
type
label
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@ast
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@en
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@nl
prefLabel
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@ast
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@en
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@nl
P2093
P3181
P1476
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
@en
P2093
Dopping-Hepenstal PJ
Gratian MJ
Whittock NV
P304
P3181
P356
10.1046/J.1523-1747.1999.00783.X
P407
P50
P577
1999-12-01T00:00:00Z
P5875
P6179
1048838821