Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)
about
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophyTargeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-OgnaProgress in epidermolysis bullosa: the phenotypic spectrum of plectin mutationsCytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor functionPlectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplexFirst successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.The rod domain is not essential for the function of plectin in maintaining tissue integrityEpidermal basement membrane: its molecular organization and blistering disorders.Diseases of epidermal keratins and their linker proteinsEpidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Epidermolysis bullosa with pyloric atresia.Do cell junction protein mutations cause an airway phenotype in mice or humans?Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
P2860
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P2860
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
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
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Epidermolysis bullosa simplex ...... ns in the plectin gene (PLEC1)
@ast
Epidermolysis bullosa simplex ...... ns in the plectin gene (PLEC1)
@en
type
label
Epidermolysis bullosa simplex ...... ns in the plectin gene (PLEC1)
@ast
Epidermolysis bullosa simplex ...... ns in the plectin gene (PLEC1)
@en
prefLabel
Epidermolysis bullosa simplex ...... ns in the plectin gene (PLEC1)
@ast
Epidermolysis bullosa simplex ...... ns in the plectin gene (PLEC1)
@en
P2093
P2860
P1476
Epidermolysis bullosa simplex ...... ns in the plectin gene (PLEC1)
@en
P2093
Daisuke Sawamura
Hideki Nakamura
Hiroshi Shimizu
Hiroyuki Nakamura
James R McMillan
Shiro Hasegawa
Son'e Paku
Sumio Kono
Susam Park
P2860
P356
10.1016/S1525-1578(10)60005-0
P577
2005-02-01T00:00:00Z