Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
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Inherited epidermolysis bullosaMutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hairThe desmosomeModulation of cell-cell junctional complexes by matrix metalloproteinasesMechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyDesmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practiceMechanistic basis of desmosome-targeted diseasesLack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entityLis1 is essential for cortical microtubule organization and desmosome stability in the epidermisA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.Keratins control intercellular adhesion involving PKC-α-mediated desmoplakin phosphorylation.Salivary proteomics in bisphosphonate-related osteonecrosis of the jaw.Synergy analysis reveals association between insulin signaling and desmoplakin expression in palmitate treated HepG2 cellsThe expanding significance of keratin intermediate filaments in normal and diseased epitheliaCompound 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.Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratodermaDesmoplakin controls microvilli length but not cell adhesion or keratin organization in the intestinal epitheliumStructure of the Intermediate Filament-Binding Region of Desmoplakin.Desmoglein-2: a novel regulator of apoptosis in the intestinal epithelium.Prediction of Recurrence and Survival for Triple-Negative Breast Cancer (TNBC) by a Protein Signature in Tissue Samples.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.p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.Sequence-specific 1H, 13C and 15N backbone resonance assignments of the plakin repeat domain of human envoplakinThe desmosome and pemphigus.Diseases of epidermal keratins and their linker proteinsEpidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Desmosomes: adhesive strength and signalling in health and disease.Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Do cell junction protein mutations cause an airway phenotype in mice or humans?Desmosomal genodermatoses.Cell-cell connectivity: desmosomes and disease.Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Desmosomal adhesion in vivo.
P2860
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P2860
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
description
2005 nî lūn-bûn
@nan
2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
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2005年學術文章
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name
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@ast
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@en
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@nl
type
label
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@ast
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@en
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@nl
prefLabel
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@ast
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@en
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@nl
P2093
P2860
P356
P1476
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
@en
P2093
Albertus Timmer
Anna M G Pasmooij
Henk J Ter Horst
Maarten P van den Berg
Marcel F Jonkman
Suzanne G M A Pasmans
P2860
P304
P356
10.1086/496901
P407
P577
2005-08-17T00:00:00Z