Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population (Q24309579)

GOA release 2020-03-11

Plakophilin 2

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protein localization to plasma membrane

GOA release 2020-03-11

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GOA release 2020-03-11

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Jessica X Chong

3

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Carole Ober

8

object named as

Carole Ober

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author name string

Brenda Gerull

1

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Florian Kirchner

2

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Julia Tagoe

4

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Kumaran Chandrasekharan

5

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Oliver Strohm

6

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Darrel Waggoner

7

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Henry J Duff

Circulation: Cardiovascular Genetics

9

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language of work or name

English

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publication date

August 2013

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published in

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volume

6

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page(s)

327-36

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issue

4

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cites work

History and relevance of the Hutterite population for genetic studies

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https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

The founder effect in a human isolate: Evolutionary implications

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

A population-based study of autosomal-recessive disease-causing mutations in a founder population

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7 January 2021

Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy

1 reference

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7 January 2021

Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)

1 reference

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7 January 2021

A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Structural and molecular pathology of the heart in Carvajal syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Working out the strength and flexibility of desmosomes

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Desmosomes: new perspectives on a classic

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Molecular interactions between desmosomal cadherins

1 reference

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7 January 2021

Right ventricular cardiomyopathy and sudden death in young people

1 reference

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7 January 2021

A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

1 reference

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7 January 2021

Correct proteolytic cleavage is required for the cell adhesive function of uvomorulin

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Desmosomal cadherins utilize distinct kinesins for assembly into desmosomes

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria

1 reference

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7 January 2021

Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations

1 reference

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7 January 2021

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Arrhythmogenic right ventricular cardiomyopathy 2012: diagnostic challenges and treatment

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

The pathobiology of arrhythmogenic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

Testing for Hardy-Weinberg equilibrium in samples with related individuals

1 reference

https://api.crossref.org/works/10.1161%2FCIRCGENETICS.113.000097

7 January 2021

10.1161/CIRCGENETICS.113.000097

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2514193

OpenCitations bibliographic resource ID

2514193

1 reference