Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. (Q51759505)

11 April 2018

title

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

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11 April 2018

main subject

epidermolysis bullosa

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1

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11 April 2018

Leena Bruckner-Tuderman

14

object named as

Leena Bruckner-Tuderman

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11 April 2018

Katsushi Owaribe

12

object named as

Katsushi Owaribe

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11 April 2018

author name string

Wataru Nishie

2

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11 April 2018

Masashi Akiyama

3

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11 April 2018

Hideki Nakamura

4

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11 April 2018

Satoru Shinkuma

5

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11 April 2018

James R McMillan

6

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11 April 2018

Akari Nagasaki

7

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11 April 2018

Cristina Has

8

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11 April 2018

Takeshi Ouchi

9

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11 April 2018

Akira Ishiko

10

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11 April 2018

Yoshiaki Hirako

11

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11 April 2018

Daisuke Sawamura

13

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11 April 2018

Hiroshi Shimizu

15

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11 April 2018

publication date

1 March 2010

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11 April 2018

published in

Human Mutation

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11 April 2018

volume

31

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11 April 2018

issue

3

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11 April 2018

page(s)

308-316

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11 April 2018

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

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

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Integrin alpha 6 beta 4 forms a complex with the cytoskeletal protein HD1 and induces its redistribution in transfected COS-7 cells

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Identification of the hemidesmosomal 500 kDa protein (HD1) as plectin

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Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton.

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Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy

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Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration

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

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A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy

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

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

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Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

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Plectin rodless isoform expression and its detection in mouse brain

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

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

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Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes

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A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

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Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation

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Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly

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7 January 2021

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

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7 January 2021

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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7 January 2021

Specificity of binding of the plectin actin-binding domain to beta4 integrin

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7 January 2021

Modeling and experimental validation of the binary complex of the plectin actin-binding domain and the first pair of fibronectin type III (FNIII) domains of the beta4 integrin

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

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Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

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7 January 2021

Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia

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7 January 2021

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy

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7 January 2021

Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1

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7 January 2021

Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180

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7 January 2021

Use of an exon-trapping vector for the evaluation of splice-site mutations

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7 January 2021

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

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7 January 2021

Plakins in development and disease

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7 January 2021

Identification of the cytolinker protein plectin in neuronal cells - expression of a rodless isoform in neurons of the rat superior cervical ganglion

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

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7 January 2021

Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests

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7 January 2021

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21189

1 reference

11 April 2018

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11 April 2018