Recovery in Patients With Dilated Cardiomyopathy With Loss-of-Function Mutations in the Titin Gene

被引:11
|
作者
Luk, Kevin [1 ,2 ]
Bakhsh, Abeer [3 ,4 ]
Giannetti, Nadia [3 ,4 ]
Elstein, Eleanor [3 ]
Lathrop, Mark [5 ,6 ,7 ]
Thanassoulis, George [2 ,3 ,8 ]
Engert, James C. [2 ,3 ,7 ,8 ]
机构
[1] McGill Univ, Sch Comp Sci, Montreal, PQ, Canada
[2] McGill Univ, Hlth Ctr, Res Inst, Montreal, PQ, Canada
[3] McGill Univ, Hlth Ctr, Div Cardiol, Dept Med,Royal Victoria Hosp, MUHC-RI Room EM1-2218,1001 Decarie Blvd, Montreal, PQ H4A 3J1, Canada
[4] McGill Univ, Hlth Ctr, Heart Failure Clin, Royal Victoria Hosp, Montreal, PQ, Canada
[5] McGill Univ, Montreal, PQ, Canada
[6] Genome Quebec Innovat Ctr, Montreal, PQ, Canada
[7] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[8] McGill Univ, Hlth Ctr, Prevent & Genom Cardiol, Montreal, PQ, Canada
关键词
D O I
10.1001/jamacardio.2017.0763
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:700 / 702
页数:4
相关论文
共 50 条
  • [1] GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy
    Xu, Lei
    Zhao, Lan
    Yuan, Fang
    Jiang, Wei-Feng
    Liu, Hua
    Li, Ruo-Gu
    Xu, Ying-Jia
    Zhang, Min
    Fang, Wei-Yi
    Qu, Xin-Kai
    Yang, Yi-Qing
    Qiu, Xing-Biao
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2014, 34 (05) : 1315 - 1322
  • [2] KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy
    Guo, Yu-Han
    Wang, Jun
    Guo, Xiao-Juan
    Gao, Ri-Feng
    Yang, Chen-Xi
    Li, Li
    Sun, Yu-Min
    Qiu, Xing-Biao
    Xu, Ying-Jia
    Yang, Yi-Qing
    JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2022, 11 (22):
  • [3] Titin mutations in familial dilated cardiomyopathy
    Gerull, B
    Gramlich, M
    Atherton, J
    McNabb, M
    Seidman, JG
    Seidman, C
    Granzier, H
    Labeit, S
    Frenneaux, M
    Thierfelder, L
    CIRCULATION, 2001, 104 (17) : 135 - 135
  • [4] Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
    van Spaendonck-Zwarts, Karin Y.
    Posafalvi, Anna
    van den Berg, Maarten P.
    Hilfiker-Kleiner, Denise
    Bollen, Ilse A. E.
    Sliwa, Karen
    Alders, Marielle
    Almomani, Rowida
    van Langen, Irene M.
    van der Meer, Peter
    Sinke, Richard J.
    van der Velden, Jolanda
    Van Veldhuisen, Dirk J.
    van Tintelen, J. Peter
    Jongbloed, Jan D. H.
    EUROPEAN HEART JOURNAL, 2014, 35 (32) : 2165 - 2173
  • [5] Relevance of truncating titin mutations in dilated cardiomyopathy
    Akinrinade, O.
    Alastalo, T-P.
    Koskenvuo, J. W.
    CLINICAL GENETICS, 2016, 90 (01) : 49 - 54
  • [6] Titin mutations as the molecular basis for dilated cardiomyopathy
    Itoh-Satoh, M
    Hayashi, T
    Nishi, H
    Koga, Y
    Arimura, T
    Koyanagi, T
    Takahashi, M
    Hohda, S
    Ueda, K
    Nouchi, T
    Hiroe, M
    Marumo, F
    Imaizumi, T
    Yasunami, M
    Kimura, A
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2002, 291 (02) : 385 - 393
  • [7] Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
    Koskenvuo, Juha W.
    Saarinen, Inka
    Ahonen, Saija
    Tommiska, Johanna
    Weckstrom, Sini
    Seppala, Eija H.
    Tuupanen, Sari
    Kangas-Kontio, Tiia
    Schleit, Jennifer
    Helio, Krista
    Hathaway, Julie
    Gummesson, Anders
    Dahlberg, Pia
    Ojala, Tiina H.
    Vepsalainen, Ville
    Kytola, Ville
    Muona, Mikko
    Sistonen, Johanna
    Salmenpera, Pertteli
    Gentile, Massimiliano
    Paananen, Jussi
    Myllykangas, Samuel
    Alastalo, Tero-Pekka
    Helio, Tiina
    PLOS ONE, 2021, 16 (02):
  • [8] PLEKHM2 Loss-of-Function Is Associated With Dilated Cardiomyopathy
    Atkins, Jessica
    Gensemer, Cortney
    Foil, Kimberly
    Morningstar, Jordan
    Ramos, Hannia
    Van Bakel, Adrian B.
    Norris, Russell A.
    Judge, Daniel P.
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2022, 15 (04): : 344 - 346
  • [9] Expanding the phenotype of loss-of-function mutations in the PPP1R13L gene causing paediatric dilated cardiomyopathy
    Zaklyazminskaya, E.
    Povolotskaya, I.
    Robinson, H.
    Turner, C. L.
    Surikova, Y.
    Armstrong, C.
    Chrisant, M. R.
    Benke, P. J.
    Mcwalter, K.
    Douglas, G.
    Balashova, M.
    Kaimonov, V.
    Shirokova, N.
    Pomerantseva, E.
    Ellard, S.
    EUROPEAN JOURNAL OF HEART FAILURE, 2019, 21 : 147 - 147
  • [10] GATA5 loss-of-function mutation in familial dilated cardiomyopathy
    Zhang, Xian-Ling
    Dai, Neng
    Tang, Kai
    Chen, Yan-Qing
    Chen, Wei
    Wang, Juan
    Zhao, Cui-Mei
    Yuan, Fang
    Qiu, Xing-Biao
    Qu, Xin-Kai
    Yang, Yi-Qing
    Xu, Ya-Wei
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2015, 35 (03) : 763 - 770