|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:dateCreated |
2008-1-11
|
|
pubmed:abstractText |
Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement. We screened 54 ARVC probands for mutations in desmocollin-2 (DSC2), the only desmocollin isoform expressed in cardiac tissue.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-10902626,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-11127465,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-11159936,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-11171368,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-11853539,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-11872839,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-11950889,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-12126234,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-12373648,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-15187337,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-15485826,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-15489853,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-15639475,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-15941723,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-16415378,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-16505173,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-16567567,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-16774985,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-16823493,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-16917092,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-17033975,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-17186466,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-2197976,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-2211831,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-3336399,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-7679953,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-7750520,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-8142187,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17963498-9501201
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1471-2350
|
|
pubmed:author |
pubmed-author:BassoCristinaC,
pubmed-author:BauceBarbaraB,
pubmed-author:BeffagnaGiorgiaG,
pubmed-author:DanieliGian AntonioGA,
pubmed-author:De BortoliMarziaM,
pubmed-author:LanfranchiGerolamoG,
pubmed-author:LorenzonAlessandraA,
pubmed-author:MancusoLuisaL,
pubmed-author:NavaAndreaA,
pubmed-author:OcchiGianlucaG,
pubmed-author:RampazzoAlessandraA,
pubmed-author:SalamonMichelaM,
pubmed-author:SigalottiLucaL,
pubmed-author:ThieneGaetanoG,
pubmed-author:TowbinJeffrey AJA,
pubmed-author:ZaccoloManuelaM
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
8
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
65
|
|
pubmed:dateRevised |
2009-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:17963498-Adolescent,
pubmed-meshheading:17963498-Adult,
pubmed-meshheading:17963498-Animals,
pubmed-meshheading:17963498-Arrhythmogenic Right Ventricular Dysplasia,
pubmed-meshheading:17963498-Cells, Cultured,
pubmed-meshheading:17963498-Desmocollins,
pubmed-meshheading:17963498-Female,
pubmed-meshheading:17963498-Green Fluorescent Proteins,
pubmed-meshheading:17963498-Heterozygote Detection,
pubmed-meshheading:17963498-Humans,
pubmed-meshheading:17963498-Male,
pubmed-meshheading:17963498-Middle Aged,
pubmed-meshheading:17963498-Mutation, Missense,
pubmed-meshheading:17963498-Myocytes, Cardiac,
pubmed-meshheading:17963498-Rats,
pubmed-meshheading:17963498-Transfection
|
|
pubmed:year |
2007
|
|
pubmed:articleTitle |
Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.
|
|
pubmed:affiliation |
Department of Biology, University of Padua, Padua, Italy. giorgia.beffagna@unipd.it
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|
