In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations (Q34447898)

2 August 2017

title

In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations (English)

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arrhythmogenic right ventricular cardiomyopathy

2 August 2017

main subject

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Anna Gaertner

1

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author name string

Baerbel Klauke

2

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2 August 2017

Ines Stork

3

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2 August 2017

Karsten Niehaus

4

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2 August 2017

Gesa Niemann

5

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2 August 2017

Jan Gummert

6

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2 August 2017

Hendrik Milting

7

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2 August 2017

language of work or name

English

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publication date

10 October 2012

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2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

10

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2 August 2017

page(s)

e47097

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

10 October 2012

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

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The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy

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Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy

6 July 2018

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Peptides Targeting the Desmoglein 3 Adhesive Interface Prevent Autoantibody-induced Acantholysis in Pemphigus

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia

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Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy

6 July 2018

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Desmosomes: new perspectives on a classic

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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

6 July 2018

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

6 July 2018

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Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

6 July 2018

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The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins

6 July 2018

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Genetics of right ventricular cardiomyopathy

6 July 2018

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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

6 July 2018

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Continual assembly of desmosomes within stable intercellular contacts of epithelial A-431 cells

6 July 2018

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6 July 2018

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A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

6 July 2018

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Genetic evidence for a novel human desmosomal cadherin, desmoglein 4

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Molecular interactions between desmosomal cadherins

6 July 2018

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Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

6 July 2018

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Removal of calcium ions triggers a novel type of intercadherin interaction.

6 July 2018

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Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

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6 July 2018

1 reference

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Direct Ca2+-dependent heterophilic interaction between desmosomal cadherins, desmoglein and desmocollin, contributes to cell-cell adhesion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

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6 July 2018

1 reference

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Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Comparative cellular processing of the human immunodeficiency virus (HIV-1) envelope glycoprotein gp160 by the mammalian subtilisin/kexin-like convertases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Immunological identification and characterization of the desmosomal cadherin Dsg2 in coupled and uncoupled epithelial cells and in human tissues

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

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6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Ultrastructure of desmosomes in mammalian intercalated disc; appearances after lanthanum treatment

6 July 2018

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6 July 2018

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6 July 2018

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Complexity and expression patterns of the desmosomal cadherins.

6 July 2018

1 reference

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Identification of desmoglein, a constitutive desmosomal glycoprotein, as a member of the cadherin family of cell adhesion molecules

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Desmoglein 2-mediated adhesion is required for intestinal epithelial barrier integrity.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Imaging and force spectroscopy on desmoglein 1 using atomic force microscopy reveal multivalent Ca(2+)-dependent, low-affinity trans-interaction.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

A reference dataset for circular dichroism spectroscopy tailored for the betagamma-crystallin lens proteins.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Structure of the neural (N-) cadherin prodomain reveals a cadherin extracellular domain-like fold without adhesive characteristics

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Prediction of membrane protein types and subcellular locations.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Protein folding stability can determine the efficiency of escape from endoplasmic reticulum quality control

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Estimation of globular protein secondary structure from circular dichroism.

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

The area composita of adhering junctions connecting heart muscle cells of vertebrates. II. Colocalizations of desmosomal and fascia adhaerens molecules in the intercalated disk

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3468437

Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study

9 December 2018

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12 December 2020

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

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12 December 2020

Electron microscopy of the intercalated discs of cardiac muscle tissue

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12 December 2020

Conformational changes of the recombinant extracellular domain of E-cadherin upon calcium binding

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12 December 2020

Myocardial transcriptome analysis of human arrhythmogenic right ventricular cardiomyopathy

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12 December 2020

De novo formation of desmosomes in cultured cells upon transfection of genes encoding specific desmosomal components

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12 December 2020

Estimation of protein secondary structure and error analysis from circular dichroism spectra

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12 December 2020

10.1371/JOURNAL.PONE.0047097

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DOI

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2 August 2017

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2 August 2017

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