Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
about
Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-OgnaThe many faces of plectin and plectinopathies: pathology and mechanismsPlectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplexMyasthenic syndrome caused by plectinopathyThe rod domain is not essential for the function of plectin in maintaining tissue integrityDownstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophyPlectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Epidermolysis bullosa in animals: a review.Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.Stabilization of the dystroglycan complex in Cajal bands of myelinating Schwann cells through plectin-mediated anchorage to vimentin filaments.New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy.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.DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
P2860
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P2860
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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name
Plectin expression patterns de ...... epidermolysis bullosa simplex.
@en
Plectin expression patterns de ...... epidermolysis bullosa simplex.
@nl
type
label
Plectin expression patterns de ...... epidermolysis bullosa simplex.
@en
Plectin expression patterns de ...... epidermolysis bullosa simplex.
@nl
prefLabel
Plectin expression patterns de ...... epidermolysis bullosa simplex.
@en
Plectin expression patterns de ...... epidermolysis bullosa simplex.
@nl
P2093
P2860
P356
P1433
P1476
Plectin expression patterns de ...... epidermolysis bullosa simplex.
@en
P2093
Akari Nagasaki
Akira Ishiko
Cristina Has
Daisuke Sawamura
Hideki Nakamura
Hiroshi Shimizu
James R McMillan
Katsushi Owaribe
Masashi Akiyama
Satoru Shinkuma
P2860
P304
P356
10.1002/HUMU.21189
P577
2010-03-01T00:00:00Z