Beyond Sarcomere Mutations Plakophilin-2 and Familial Hypertrophic Cardiomyopathy

被引:0
|
作者
Shadman, Shahrad
Gasimli-Gamache, Leyla
Cabrera, Felicia
Luther, Sarah
Shirani, Jamshid
机构
关键词
Hypertrophic cardiomyopathy; Gene expression; Genetic testing; Family; Hypertrophy;
D O I
10.1161/circ.148.suppl_1.14463
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A14463
引用
收藏
页数:2
相关论文
共 50 条
  • [21] Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis
    Rasmussen, Torsten B.
    Nissen, Peter H.
    Palmfeldt, Johan
    Gehmlich, Katja
    Dalager, Soren
    Jensen, Uffe B.
    Kim, Won Y.
    Heickendorff, Lene
    Molgaard, Henning
    Jensen, Henrik K.
    Baandrup, Ulrik T.
    Bross, Peter
    Mogensen, Jens
    CIRCULATION-CARDIOVASCULAR GENETICS, 2014, 7 (03) : 230 - 240
  • [22] Correction: Corrigendum: Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
    B Gerull
    A Heuser
    T Wichter
    M Paul
    C T Basson
    D A McDermott
    B B Lerman
    S M Markowitz
    P T Ellinor
    C A MacRae
    S Peters
    K S Grossman
    B Michely
    S Sasse-Klaassen
    M Birchmeier
    R Dietz
    G Breithardt
    E Schulze-Bahr
    L Thierfelder
    Nature Genetics, 2005, 37 : 106 - 106
  • [23] Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations
    Fidler, Lee M.
    Wilson, Gregory J.
    Liu, Fanfan
    Cui, Xuezhi
    Scherer, Stephen W.
    Taylor, Glenn P.
    Hamilton, Robert M.
    JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2009, 13 (10) : 4219 - 4228
  • [24] Role of truncated plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy
    Alcalde, M.
    Campuzano, O.
    Beltran-Alvarez, P.
    Pagans, S.
    Verges, M.
    Brugada, R.
    CARDIOVASCULAR RESEARCH, 2014, 103
  • [25] Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy
    Wu Shu-lin
    Wang Pei-ning
    Hou Yue-shuang
    Zhang Xu-chao
    Shan Zhi-xin
    Yu Xi-yong
    Deng Mei
    CHINESE MEDICAL JOURNAL, 2009, 122 (04) : 403 - 407
  • [26] Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
    Niimura, H
    Patton, KK
    McKenna, WJ
    Soults, J
    Maron, BJ
    Seidman, JG
    Seidman, CE
    CIRCULATION, 2002, 105 (04) : 446 - 451
  • [28] Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization
    Zhang, Kehan
    Cloonan, Paige E.
    Sundaram, Subramanian
    Liu, Feng
    Das, Shoshana L.
    Ewoldt, Jourdan K.
    Bays, Jennifer L.
    Tomp, Samuel
    Toepfer, Christopher N.
    Marsiglia, Julia D. C.
    Gorham, Joshua
    Reichart, Daniel
    Eyckmans, Jeroen
    Seidman, Jonathan G.
    Seidman, Christine E.
    Chen, Christopher S.
    SCIENCE ADVANCES, 2021, 7 (42)
  • [29] Pathogenic Mechanisms of Hypertrophic Cardiomyopathy beyond Sarcomere Dysfunction
    Chou, Chun
    Chin, Michael T.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (16)
  • [30] Ultrastructural Abnormalities in the Absence of Structural Cardiomyopathy in Plakophilin-2 Deficient Mice
    Leo-Macias, Alejandra
    Gutierrez, Alejandra
    Liang, Feng-Xia
    Delmar, Mario
    CIRCULATION, 2014, 130