Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
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Pemphigus vulgaris antibody identifies pemphaxin. A novel keratinocyte annexin-like molecule binding acetylcholineMutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathyDisparate effects of different mutations in plakoglobin on cell mechanical behaviorCrystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domainThe desmosomeDefining desmosomal plakophilin-3 interactionsGenetic disorders of palm skin and nailIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Microtubule actin cross-linking factor (MACF): a hybrid of dystonin and dystrophin that can interact with the actin and microtubule cytoskeletonsRecent advances in understanding ichthyosis pathogenesisDownregulation of E-cadherin and Desmoglein 1 by autocrine hepatocyte growth factor during melanoma developmentGenotype-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 bullosaRequirement of plakophilin 2 for heart morphogenesis and cardiac junction formationMechanistic basis of desmosome-targeted diseasesLoss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndromeEpiplakin gene analysis in mouse reveals a single exon encoding a 725-kDa protein with expression restricted to epithelial tissuesGenome-wide association study identifies multiple susceptibility loci for pulmonary fibrosisTargetting of desmoglein 1 in inherited and acquired skin diseases.Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strengthEpiplakin, a novel member of the Plakin family originally identified as a 450-kDa human epidermal autoantigen. Structure and tissue localization.Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.Mapping complex traits in diseases of the hair and skin.The molecular bases for the palmoplantar keratodermas.A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.Structure and regulation of the envoplakin gene.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.Deconstructing desmoplakin.Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalitiesHinged plakin domains provide specialized degrees of articulation in envoplakin, periplakin and desmoplakin.The molecular genetics of the genodermatoses: progress to date and future directions.Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a familyStructure of the Intermediate Filament-Binding Region of Desmoplakin.Keratins and skin disorders.
P2860
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P2860
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@ast
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@en
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@en-gb
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@nl
type
label
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@ast
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@en
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@en-gb
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@nl
prefLabel
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@ast
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@en
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@en-gb
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@nl
P2093
P921
P3181
P356
P1476
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
@en
P2093
A E Hughes
D K Armstrong
K E McKenna
P E Purkis
P3181
P356
10.1093/HMG/8.1.143
P407
P577
1999-01-01T00:00:00Z