Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
about
Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurinDefining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermathTargeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-OgnaThe Structure of the Plakin Domain of Plectin Reveals a Non-canonical SH3 Domain Interacting with Its Fourth Spectrin RepeatThe many faces of plectin and plectinopathies: pathology and mechanismsIdentification of protein targets in cerebral endothelial cells for brain arteriovenous malformation (AVMs) molecular therapies.Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplexMyasthenic syndrome caused by plectinopathyEpidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.Quantitative tissue proteomics of esophageal squamous cell carcinoma for novel biomarker discovery.The rod domain is not essential for the function of plectin in maintaining tissue integrityTarget proteins in inherited and acquired blistering skin disorders.Epidermal basement membrane: its molecular organization and blistering disorders.Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.Diseases of epidermal keratins and their linker proteinsDe novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.Targeted inactivation of a developmentally regulated neural plectin isoform (plectin 1c) in mice leads to reduced motor nerve conduction velocityEpidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.Epidermolysis bullosa with pyloric atresia.Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan.Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.Plectin isoform-dependent regulation of keratin-integrin alpha6beta4 anchorage via Ca2+/calmodulinStabilization of the dystroglycan complex in Cajal bands of myelinating Schwann cells through plectin-mediated anchorage to vimentin filaments.Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
P2860
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P2860
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
description
2005 nî lūn-bûn
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2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
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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
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name
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@ast
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@en
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@nl
type
label
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@ast
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@en
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@nl
prefLabel
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@ast
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@en
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@nl
P2093
P2860
P3181
P1476
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations
@en
P2093
P2860
P3181
P356
10.1111/J.0906-6705.2005.00324.X
P407
P577
2005-04-01T00:00:00Z