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Journal article

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

Abstract:

AIMS: Recent immunohistochemical studies observed the loss of plakoglobin (PG) from the intercalated disc (ID) as a hallmark of arrhythmogenic right ventricular cardiomyopathy (ARVC), suggesting a final common pathway for this disease. However, the underlying molecular processes are poorly understood. METHODS AND RESULTS: We have identified novel mutations in the desmosomal cadherin desmocollin 2 (DSC2 R203C, L229X, T275M, and G371fsX378). The two missense mutations (DSC2 R203C and T275M) hav...

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Publication status:
Published

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Publisher copy:
10.1093/cvr/cvq353

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine, BHF Centre of Research Excellence
Peskett, E More by this author
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Journal:
Cardiovascular research
Volume:
90
Issue:
1
Pages:
77-87
Publication date:
2011-04-05
DOI:
EISSN:
1755-3245
ISSN:
0008-6363
URN:
uuid:af52cfe3-d2ac-462b-835a-1d669cb576f2
Source identifiers:
259949
Local pid:
pubs:259949

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