Results 11 to 20 of about 592,769 (337)

Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

Science Translational Medicine, 2022
Mutations in RNA binding motif protein 20 (RBM20) are a common cause of familial dilated cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS-rich) domain, which mediates nuclear localization. These mutations induce RBM20
Takahiko Nishiyama, Yu Zhang, Miao Cui, Hui Li, E. Sánchez-Ortiz, John R. McAnally, Wei Tan, Jiwoong Kim, Kenian Chen, Lin Xu, R. Bassel-Duby, E. Olson   +11 more
semanticscholar   +1 more source

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Circulation, 2021
Supplemental Digital Content is available in the text. Background: Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature ...
Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, B. Asatryan, L. Bronicki, Emily E. Brown, R. Celeghin, Matthew Edwards, Judy Fan, J. Ingles, C. James, O. Jarinova, Renee Johnson, Daniel P. Judge, N. Lahrouchi, R. L. Lekanne Deprez, R. Lumbers, F. Mazzarotto, A. Medeiros Domingo, Rebecca L. Miller, A. Morales, B. Murray, Stacey Peters, K. Pilichou, Alexandros Protonotarios, C. Semsarian, Palak Shah, P. Syrris, C. Thaxton, J. V. van Tintelen, R. Walsh, Jessica Wang, James S. Ware, R. E. Hershberger   +33 more
semanticscholar   +1 more source

Truncated titin proteins in dilated cardiomyopathy

Science Translational Medicine, 2021
Description Truncating mutations in TTN result in both truncated titin proteins and reduced full-length titin in patient hearts. Tracking titin in dilated cardiomyopathy Truncating variants in TTN, the gene encoding the titin protein, underlie 15 to 25 ...
Q. McAfee, C. Y. Chen, Yifan Yang, M. Caporizzo, M. Morley, A. Babu, Sunhye Jeong, Jeffrey Brandimarto, K. Bedi, Emily Flam, Joseph Cesare, T. Cappola, K. Margulies, B. Prosser, Z. Arany   +14 more
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The combination of carboxy‐terminal propeptide of procollagen type I blood levels and late gadolinium enhancement at cardiac magnetic resonance provides additional prognostic information in idiopathic dilated cardiomyopathy – A multilevel assessment of myocardial fibrosis in dilated cardiomyopathy

European Journal of Heart Failure, 2021
To determine the prognostic value of multilevel assessment of fibrosis in dilated cardiomyopathy (DCM) patients.
A. Raafs, J. Verdonschot, M. Henkens, B. Adriaans, Ping Wang, K. Derks, M. A. Abdul Hamid, C. Knackstedt, V. V. van Empel, J. Díez, H. Brunner-la Rocca, H. Brunner, Arantxa González, S. Bekkers, S. Heymans, M. Hazebroek   +15 more
semanticscholar   +1 more source

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

Nature Communications, 2020
Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci.
J. Pirruccello, A. Bick, Minxian Wang, M. Chaffin, S. Friedman, Jie Yao, Xiuqing Guo, B. Venkatesh, K. Taylor, W. Post, S. Rich, J. Lima, J. Rotter, A. Philippakis, S. Lubitz, P. Ellinor, A. Khera, S. Kathiresan, Krishna G. Aragam   +18 more
semanticscholar   +1 more source

Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.

European Heart Journal, 2021
There is increasing understanding of the genetic basis to dilated cardiomyopathy and in this review, we offer a practical primer for the practising clinician.
U. Tayal, J. Ware, N. Lakdawala, S. Heymans, S. Prasad   +4 more
semanticscholar   +1 more source

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

Circulation, 2020
Supplemental Digital Content is available in the text. Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories.
F. Mazzarotto, U. Tayal, U. Tayal, R. Buchan, R. Buchan, W. Midwinter, W. Midwinter, Alicja E Wilk, Alicja E Wilk, N. Whiffin, N. Whiffin, N. Whiffin, R. Govind, R. Govind, Erica Mazaika, Erica Mazaika, A. Marvao, T. Dawes, T. Dawes, L. Felkin, L. Felkin, Mian Ahmad, Mian Ahmad, P. Theotokis, P. Theotokis, Elizabeth C. Edwards, Elizabeth C. Edwards, Alexander Y. Ing, K. Thomson, K. Thomson, L. Chan, D. Sim, A. Baksi, A. Baksi, A. Pantazis, Angharad M. Roberts, Angharad M. Roberts, H. Watkins, B. Funke, D. O’Regan, I. Olivotto, P. Barton, P. Barton, Sanjay K. Prasad, Sanjay K. Prasad, S. Cook, James S. Ware, James S. Ware, James S. Ware, R. Walsh   +49 more
semanticscholar   +1 more source

Mitochondrial Function and Dysfunction in Dilated Cardiomyopathy

Frontiers in Cell and Developmental Biology, 2021
Cardiac tissue requires a persistent production of energy in order to exert its pumping function. Therefore, the maintenance of this function relies on mitochondria that represent the “powerhouse” of all cardiac activities.
D. Ramaccini, Vanessa Montoya-Uribe, F. Aan, Lorenzo Modesti, Y. Potes, M. Wieckowski, I. Krga, M. Glibetić, P. Pinton, C. Giorgi, M. Matter   +10 more
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Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation, 2020
Supplemental Digital Content is available in the text. Background: Mutations in desmoplakin (DSP), the primary force transducer between cardiac desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy that has been variably ...
Eric Smith, N. Lakdawala, N. Papoutsidakis, G. Aubert, A. Mazzanti, Anthony C McCanta, P. Agarwal, P. Arscott, Lisa M. Dellefave‐Castillo, E. Vorovich, K. Nutakki, Lisa D. Wilsbacher, S. Priori, D. Jacoby, E. McNally, A. Helms   +15 more
semanticscholar   +1 more source

An Evidence-based Assessment of Genes in Dilated Cardiomyopathy

medRxiv, 2020
Background: The cardiomyopathies are classically categorized as hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular (ARVC), and each have a signature genetic theme.
Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, B. Asatryan, Lucas M. Bronicki, E. Brown, R. Celeghin, M. Edwards, J. Fan, J. Ingles, C. James, O. Jarinova, Renee Johnson, D. Judge, N. Lahrouchi, Ronald H. Lekanne Deprez, R. Lumbers, F. Mazzarotto, A. M. Domingo, Rebecca L. Miller, A. Morales, B. Murray, S. Peters, K. Pilichou, A. Protonotarios, C. Semsarian, P. Shah, P. Syrris, C. Thaxton, J. V. van Tintelen, R. Walsh, Jessica J Wang, J. Ware, R. E. Hershberger   +33 more
semanticscholar   +1 more source