(Q43685797)

25 November 2017

title

Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations (English)

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epidermolysis bullosa simplex

25 November 2017

main subject

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12

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13

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A Charlesworth

1

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C Chiaverini

2

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J Chevrant-Breton

3

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M DelRio

4

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A Diociaiuti

5

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R P Dupuis

6

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M El Hachem

7

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25 November 2017

B Le Fiblec

8

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A M Sankari-Ho

9

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A Valhquist

10

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E Wierzbicka

11

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25 November 2017

language of work or name

English

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publication date

1 April 2013

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British Journal of Dermatology

25 November 2017

published in

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25 November 2017

volume

168

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issue

4

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25 November 2017

page(s)

808-814

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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

25 November 2017

cites work

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Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

21 January 2018

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Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy

21 January 2018

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Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

21 January 2018

1 reference

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)

21 January 2018

1 reference

Plectin isoforms as organizers of intermediate filament cytoarchitecture

21 January 2018

1 reference

Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24)

21 January 2018

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Plectin: general overview and appraisal of its potential role as a subunit protein of the cytomatrix

21 January 2018

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Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna

21 January 2018

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Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding

21 January 2018

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Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes.

21 January 2018

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Interaction of plectin and intermediate filaments

21 January 2018

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Linking integrin alpha6beta4-based cell adhesion to the intermediate filament cytoskeleton: direct interaction between the beta4 subunit and plectin at multiple molecular sites.

21 January 2018

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Domain structure and transcript diversity of plectin

21 January 2018

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Structural basis of the interaction between integrin alpha6beta4 and plectin at the hemidesmosomes

21 January 2018

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Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

21 January 2018

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Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms

21 January 2018

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Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

21 January 2018

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Plectin gene defects lead to various forms of epidermolysis bullosa simplex

21 January 2018

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Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.

21 January 2018

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Epidermolysis bullosa with pyloric atresia

21 January 2018

1 reference

Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex

21 January 2018

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Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

21 January 2018

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Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging

21 January 2018

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Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

21 January 2018

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Epidermolysis bullosa: the expanding mutation database

21 January 2018

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Epidermolysis bullosa simplex with muscular dystrophy

21 January 2018

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

21 January 2018

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Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

21 January 2018

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Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

21 January 2018

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Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/BJD.12202

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25 November 2017

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