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Select item 65821531.

β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity

Arjun S. Adhikari, Darshan V. Trivedi, Saswata S. Sarkar, Dan Song, Kristina B. Kooiker, Daniel Bernstein, James A. Spudich, Kathleen M. Ruppel

Nat Commun. 2019; 10: 2685. Published online 2019 Jun 18. doi: 10.1038/s41467-019-10555-9

PMCID:: PMC6582153

Abstract Article PDF–2.9M

Select item 70570832.

Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole‐exome sequencing

Ming‐Bao Ren, Xiao‐Rui Chai, Lin Li, Xin Wang, Chenghong Yin

Mol Genet Genomic Med. 2020 Mar; 8(3): e1150. Published online 2020 Jan 20. doi: 10.1002/mgg3.1150

PMCID:: PMC7057083

Abstract Article PDF–912K

Select item 70107673.

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy

Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu

Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7

PMCID:: PMC7010767

Abstract Article PDF–1.5M

Select item 69883654.

Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients

Roderick A. Yao, Oyediran Akinrinade, Marie Chaix, Seema Mital

BMC Med Genomics. 2020; 13: 11. Published online 2020 Jan 29. doi: 10.1186/s12920-020-0664-7

PMCID:: PMC6988365

Abstract Article PDF–1.4M

Select item 68590965.

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy

Jih-Kai Yeh, Wei-Hsiu Liu, Chao-Yung Wang, Jang-Jih Lu, Chien-Hsiun Chen, Yah-Huei Wu-Chou, Pi-Yueh Chang, Shih-Cheng Chang, Chia-Hung Yang, Ming-Lung Tsai, Ming-Yun Ho, I-Chang Hsieh, Ming-Shien Wen

Acta Cardiol Sin. 2019 Nov; 35(6): 571–584. doi: 10.6515/ACS.201911_35(6).20190402A

PMCID:: PMC6859096

Abstract Article PDF–1.5M

Select item 64892136.

Genome-wide DNA methylation analysis revealed stable DNA methylation status during decidualization in human endometrial stromal cells

Ryo Maekawa, Isao Tamura, Masahiro Shinagawa, Yumiko Mihara, Shun Sato, Maki Okada, Toshiaki Taketani, Hiroshi Tamura, Norihiro Sugino

BMC Genomics. 2019; 20: 324. Published online 2019 Apr 29. doi: 10.1186/s12864-019-5695-0

Correction in:: BMC Genomics. 2024; 25: 343.

PMCID:: PMC6489213

Abstract Article PDF–2.9M

Select item 63694487.

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Caroline F. Wright, Ben West, Marcus Tuke, Samuel E. Jones, Kashyap Patel, Thomas W. Laver, Robin N. Beaumont, Jessica Tyrrell, Andrew R. Wood, Timothy M. Frayling, Andrew T. Hattersley, Michael N. Weedon

Am J Hum Genet. 2019 Feb 7; 104(2): 275–286. Published online 2019 Jan 18. doi: 10.1016/j.ajhg.2018.12.015

PMCID:: PMC6369448

Abstract Article PDF–574K

Select item 61378788.

Secondary findings in 421 whole exome-sequenced Chinese children

Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu, Zhou Zhou

Hum Genomics. 2018; 12: 42. Published online 2018 Sep 14. doi: 10.1186/s40246-018-0174-2

PMCID:: PMC6137878

Abstract Article PDF–409K

Select item 61179679.

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

Chaoxia Lu, Wei Wu, Fang Liu, Kunqi Yang, Jiacheng Li, Yaping Liu, Rongrong Wang, Nuo Si, Peng Gao, Yongtai Liu, Shuyang Zhang, Xue Zhang

J Transl Med. 2018; 16: 241. Published online 2018 Aug 30. doi: 10.1186/s12967-018-1605-5

PMCID:: PMC6117967

Abstract Article PDF–842K

Select item 602860810.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek A. Yousry

Front Neurol. 2018; 9: 456. Published online 2018 Jun 26. doi: 10.3389/fneur.2018.00456

PMCID:: PMC6028608

Abstract Article PDF–1.8M

Select item 589903411.

Hypertrophy Regression with N-AcetyLcysTeine in Hypertrophic CardioMyopathy (HALT-HCM): A Randomized Placebo Controlled Double Blind Pilot Study

Ali J. Marian, Yanli Tan, Lili Li, Jeffrey Chang, Petros Syrris, Manouchehr Hessabi, Mohammad H. Rahbar, James T. Willerson, Benjamin Y. Cheong, Chia-Ying Liu, Neal S. Kleiman, David A. Bluemke, Sherif F. Nagueh

Circ Res. Author manuscript; available in PMC 2019 Apr 13.

Published in final edited form as: Circ Res. 2018 Apr 13; 122(8): 1109–1118. Published online 2018 Mar 14. doi: 10.1161/CIRCRESAHA.117.312647

PMCID:: PMC5899034

Abstract Article PDF–482K

Select item 587606412.

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield, Jan D H Jongbloed, Daniela Macaya, Arjun Manrai, Kate Orland, Gabriele Richard, Katherine Spoonamore, Matthew Thomas, Kate Thomson, Lisa M Vincent, Roddy Walsh, Hugh Watkins, Nicola Whiffin, Jodie Ingles, J Peter van Tintelen, Christopher Semsarian, James S Ware, Ray Hershberger, Birgit Funke, for theClinGen Cardiovascular Clinical Domain Working Group

Genet Med. 2018 Mar; 20(3): 351–359. Published online 2018 Jan 4. doi: 10.1038/gim.2017.218

PMCID:: PMC5876064

Abstract Article PDF–327K

Select item 585915913.

Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs

J. Montag, B. Petersen, A. K. Flögel, E. Becker, A. Lucas-Hahn, G. J. Cost, C. Mühlfeld, T. Kraft, H. Niemann, B. Brenner

Sci Rep. 2018; 8: 4786. Published online 2018 Mar 19. doi: 10.1038/s41598-018-22936-z

PMCID:: PMC5859159

Abstract Article PDF–2.0M

Select item 563588914.

Functional screening in human cardiac organoids reveals a metabolic mechanism for cardiomyocyte cell cycle arrest

Richard J. Mills, Drew M. Titmarsh, Xaver Koenig, Benjamin L. Parker, James G. Ryall, Gregory A. Quaife-Ryan, Holly K. Voges, Mark P. Hodson, Charles Ferguson, Lauren Drowley, Alleyn T. Plowright, Elise J. Needham, Qing-Dong Wang, Paul Gregorevic, Mei Xin, Walter G. Thomas, Robert G. Parton, Lars K. Nielsen, Bradley S. Launikonis, David E. James, David A. Elliott, Enzo R. Porrello, James E. Hudson

Proc Natl Acad Sci U S A. 2017 Oct 3; 114(40): E8372–E8381. Published online 2017 Sep 15. doi: 10.1073/pnas.1707316114

PMCID:: PMC5635889

Abstract Article PDF–1.8M

Select item 560603615.

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

BMC Med Genet. 2017; 18: 105. Published online 2017 Sep 19. doi: 10.1186/s12881-017-0463-y

Correction in:: BMC Med Genet. 2017; 18: 150.

PMCID:: PMC5606036

Abstract Article PDF–1.1M

Select item 553146816.

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Cinzia Forleo, Anna Maria D’Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale

PLoS One. 2017; 12(7): e0181842. Published online 2017 Jul 27. doi: 10.1371/journal.pone.0181842

PMCID:: PMC5531468

Abstract Article PDF–1.7M

Select item 505319417.

Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

Beatriz Piva e Mattos, Fernando Luís Scolari, Marco Antonio Rodrigues Torres, Laura Simon, Valéria Centeno de Freitas, Roberto Giugliani, Úrsula Matte

Arq Bras Cardiol. 2016 Sep; 107(3): 257–265. doi: 10.5935/abc.20160133

PMCID:: PMC5053194

Abstract Article PDF–338K

Select item 503508418.

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

Anna Kostareva, Artem Kiselev, Alexandra Gudkova, Goar Frishman, Andreas Ruepp, Dmitrij Frishman, Natalia Smolina, Svetlana Tarnovskaya, Daniel Nilsson, Anna Zlotina, Tatiana Khodyuchenko, Tatiana Vershinina, Tatiana Pervunina, Alexandra Klyushina, Andrey Kozlenok, Gunnar Sjoberg, Irina Golovljova, Thomas Sejersen, Eugeniy Shlyakhto

PLoS One. 2016; 11(9): e0163362. Published online 2016 Sep 23. doi: 10.1371/journal.pone.0163362

PMCID:: PMC5035084

Abstract Article PDF–1.4M

Select item 500063719.

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

Speranza Rubattu, Cristina Bozzao, Ermelinda Pennacchini, Erika Pagannone, Beatrice Maria Musumeci, Maria Piane, Aldo Germani, Camilla Savio, Pietro Francia, Massimo Volpe, Camillo Autore, Luciana Chessa

Int J Mol Sci. 2016 Aug; 17(8): 1239. Published online 2016 Jul 30. doi: 10.3390/ijms17081239

PMCID:: PMC5000637

Abstract Article PDF–229K

Select item 497182720.

Myosin content of individual human muscle fibers isolated by laser capture microdissection

Charles A. Stuart, William L. Stone, Mary E. A. Howell, Marianne F. Brannon, H. Kenton Hall, Andrew L. Gibson, Michael H. Stone

Am J Physiol Cell Physiol. 2016 Mar 1; 310(5): C381–C389. Published online 2015 Dec 16. doi: 10.1152/ajpcell.00317.2015

PMCID:: PMC4971827

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