Prediction of Pathogenicity of Plakophilin-2 Missense Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

被引：0

作者：

Groeneweg, Judith A. ^{[1
,2
]}

Bhonsale, Aditya ^{[3
]}

James, Cynthia A. ^{[3
]}

van der Heijden, Jeroen F. ^{[1
]}

Murray, Brittney ^{[3
]}

Wilde, Arthur A. ^{[4
]}

Tichnell, Crystal ^{[3
]}

Jonabloed, Jan D. ^{[5
]}

Tandri, Harikrishna ^{[3
]}

van Tintelen, J. P. ^{[5
]}

Judge, Daniel P. ^{[3
]}

Hauer, Richard N. ^{[1
,2
]}

Calkins, Hugh ^{[3
]}

Dooljes, Dennis ^{[1
]}

机构：

[1] Univ Med Cntr Utrecht, Utrecht, Netherlands

[2] Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands

[3] Johns Hopkins Univ, Sch Med, Baltimore, MD USA

[4] Acad Med Cntr Amsterdam, Amsterdam, Netherlands

[5] Univ Groningen, Univ Med Cntr Groningen, Groningen, Netherlands

来源：

CIRCULATION | 2012年 / 126卷 / 21期

关键词：

Cardiomyopathy; Gene mutations; Ventricular arrhythmia; Fenofibrate;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

12832

引用

页数：2

共 50 条

[1] Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy
Lahtinen, Annukka M.
Lehtonen, Annukka
Kaartinen, Maija
Toivonen, Lauri
Swan, Heikki
Widen, Elisabeth
Lehtonen, Eero
Lehto, Veli-Pekka
Kontula, Kimmo
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2008, 126 (01) : 92 - 100
[2] Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2
Chen, PS
HEART RHYTHM, 2006, 3 (06) : 753 - 753
[3] Mutations of Plakophilin-2 in Chinese With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Qiu, Xiaoliang
Liu, Wenling
Hu, Dayi
Zhu, Tiangang
Li, Cuilan
Li, Lei
Guo, Chengjun
Liu, Xingpeng
Wang, Lei
Zheng, Hua
Wang, Chunling
Diao, Qing
Shi, Dan
Zhan, Pingyun
Deng, Yuanming
Liu, Kunshen
Wang, Yi
Liu, Baomin
Liu, Hongming
Zhang, Li
AMERICAN JOURNAL OF CARDIOLOGY, 2009, 103 (10): : 1439 - 1444
[4] Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense Mutations
Kirchner, Florian
Schuetz, Anja
Boldt, Leif-Hendrik
Martens, Kristina
Dittmar, Gunnar
Haverkamp, Wilhelm
Thierfelder, Ludwig
Heinemann, Udo
Gerull, Brenda
CIRCULATION-CARDIOVASCULAR GENETICS, 2012, 5 (04) : 400 - 411
[5] Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy
van Tintelen, JP
Entius, MM
Bhuiyan, ZA
Jongbloed, R
Wiesfeld, ACP
Wilde, AAM
van der Smagt, J
Boven, LG
Mannens, MMAM
van Langen, IM
Hofstra, RMW
Otterspoor, LC
Doevendans, PAFM
Rodriguez, LM
van Gelder, IC
Hauer, RNW
CIRCULATION, 2006, 113 (13) : 1650 - 1658
[6] Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2
Dalal, D
Molin, LH
Piccini, J
Tichnell, C
James, C
Bomma, C
Prakasa, K
Towbin, JA
Marcus, FI
Spevak, PJ
Bluemke, DA
Abraham, T
Russell, SD
Calkins, H
Judge, DP
CIRCULATION, 2006, 113 (13) : 1641 - 1649
[7] Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy
Dalal, Darshan
James, Cynthia
Devanagondi, Rajiv
Tichnell, Crystal
Tucker, April
Prakasa, Kalpana
Spevak, Philip J.
Bluemke, David A.
Abraham, Theodore
Russell, Stuart D.
Calkins, Hugh
Judge, Daniel P.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2006, 48 (07) : 1416 - 1424
[8] Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
Gerull, B
Heuser, A
Wichter, T
Paul, M
Basson, CT
McDermott, DA
Lerman, BB
Markowitz, SM
Ellinor, PT
MacRae, CA
Peters, S
Grossmann, KS
Michely, B
Sasse-Klaassen, S
Birchmeier, W
Dietz, R
Breithardt, G
Schulze-Bahr, E
Thierfelder, L
NATURE GENETICS, 2004, 36 (11) : 1162 - 1164
[9] Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
Brenda Gerull
Arnd Heuser
Thomas Wichter
Matthias Paul
Craig T Basson
Deborah A McDermott
Bruce B Lerman
Steve M Markowitz
Patrick T Ellinor
Calum A MacRae
Stefan Peters
Katja S Grossmann
Beate Michely
Sabine Sasse-Klaassen
Walter Birchmeier
Rainer Dietz
Günter Breithardt
Eric Schulze-Bahr
Ludwig Thierfelder
Nature Genetics, 2004, 36 : 1162 - 1164
[10] Clinical features of arrhythmogenic right ventricular dysplasia associated with mutations in plakophilin-2
Dalal, D
Molin, LH
Piccini, J
Bomma, C
Prakasa, K
Tichnell, C
James, C
Russell, SD
Calkins, H
Judge, DP
CIRCULATION, 2005, 112 (17) : U42 - U43

← 1 2 3 4 5 →