(Q82268969)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

epidermolysis bullosa simplex with muscular dystrophy

15 January 2020

main subject

0 references

dilated cardiomyopathy

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Maria C Bolling

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Marianne de Visser

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Eleonora Aronica

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Ellen G Pfendner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Maarten P van den Berg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Gilles F H Diercks

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Albert J H Suurmeijer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Marcel F Jonkman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

language of work or name

English

0 references

publication date

17 December 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

15 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

4

1 reference

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15 January 2020

page(s)

1178-1181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20016501%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/jid.2009.390

15 January 2020

exact match

0 references

cites work

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Not just scaffolding: plectin regulates actin dynamics in cultured cells

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7 January 2021

Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Plectin 1 links intermediate filaments to costameric sarcolemma through beta-synemin, alpha-dystrobrevin and actin

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

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.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

dbSNP: the NCBI database of genetic variation

1 reference

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7 January 2021

Plakins in development and disease

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

The structure of a tandem pair of spectrin repeats of plectin reveals a modular organization of the plakin domain

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Occurrence and immunolocalization of plectin in tissues

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021

Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.390

7 January 2021