Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
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Targeted 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 RepeatCongenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentUnexpected gain of function for the scaffolding protein plectin due to mislocalization in pancreatic cancer.Determining the mechanical properties of plectin in mouse myoblasts and keratinocytes.Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplexMyasthenic syndrome caused by plectinopathyLinking cytoarchitecture to metabolism: sarcolemma-associated plectin affects glucose uptake by destabilizing microtubule networks in mdx myofibers.Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Molecular architecture and function of the hemidesmosome.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Molecular architecture and function of the hemidesmosome.Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Stabilization 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.A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement.DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
P2860
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P2860
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on January 2010
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
@en
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
@nl
type
label
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
@en
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
@nl
prefLabel
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
@en
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
@nl
P1433
P1476
Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
@en
P2093
Günther A Rezniczek
P356
10.1016/J.DET.2009.10.004
P577
2010-01-01T00:00:00Z