A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency

Item
http://www.wikidata.org/entity/Q24685930
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutationsPlectin reinforces vascular integrity by mediating crosstalk between the vimentin and the actin networks.Novel insertion mutation of ABCB1 gene in an ivermectin-sensitive Border Collie.Myasthenic syndrome caused by plectinopathyApplication of the procedural consolidation concept to surgical treatment of children with epidermolysis bullosa: a retrospective analysis.Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.Plectin isoforms as organizers of intermediate filament cytoarchitecture.Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Mitochondrial dysfunction: a neglected component of skin diseases.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.Epidermolysis bullosa naevi reveal a distinctive dermoscopic pattern.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.GPR56/ADGRG1 regulates development and maintenance of peripheral myelin.Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
P2860

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency

Item
http://www.wikidata.org/entity/Q24685930
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A compound heterozygous one am ...... implex with plectin deficiency
@ast
A compound heterozygous one am ...... implex with plectin deficiency
@en
A compound heterozygous one am ...... implex with plectin deficiency
@nl
type
label
A compound heterozygous one am ...... implex with plectin deficiency
@ast
A compound heterozygous one am ...... implex with plectin deficiency
@en
A compound heterozygous one am ...... implex with plectin deficiency
@nl
prefLabel
A compound heterozygous one am ...... implex with plectin deficiency
@ast
A compound heterozygous one am ...... implex with plectin deficiency
@en
A compound heterozygous one am ...... implex with plectin deficiency
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
A compound heterozygous one am ...... implex with plectin deficiency
@en
P2093
P2860
P304
P31
P356
10.1016/S0002-9440(10)64003-5
P407
P433
P478
P50
P577
P698
P932