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Items: 1 to 20 of 133

1.
Early onset hypertrophic cardiomyopathy mutations significantly increase the velocity, force, and actin-activated ATPase activity of human β-cardiac myosin
Arjun S. Adhikari, Kristina B. Kooiker, Saswata S. Sarkar, Chao Liu, Daniel Bernstein, James A. Spudich, Kathleen M. Ruppel
Cell Rep. Author manuscript; available in PMC 2024 May 11.
Published in final edited form as: Cell Rep. 2016 Dec 13; 17(11): 2857–2864. doi: 10.1016/j.celrep.2016.11.040
PMCID:
PMC11088367
AbstractArticlePDF–1.0M
2.
End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series
Susumu Naito, Shuichiro Higo, Satoshi Kameda, Shou Ogawa, Tomoka Tabata, Yasuhiro Akazawa, Daisuke Nakamura, Kei Nakamoto, Fusako Sera, Yuki Kuramoto, Yoshihiro Asano, Shungo Hikoso, Shigeru Miyagawa, Yasushi Sakata
Intern Med. 2023 Nov 1; 62(21): 3167–3173. Published online 2023 Mar 22. doi: 10.2169/internalmedicine.1497-22
PMCID:
PMC10686745
AbstractArticlePDF–1.1M
3.
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
Niloofar Naderi, Neda Mohsen-Pour, Yalda Nilipour, Maryam Pourirahim, Majid Maleki, Samira Kalayinia
BMC Cardiovasc Disord. 2023; 23: 487. Published online 2023 Oct 4. doi: 10.1186/s12872-023-03538-8
PMCID:
PMC10552240
AbstractArticlePDF–2.2M
4.
MYH7基因突变致儿童肥厚型心肌病的研究进展
郑 奎, 刘 露, 张 英谦
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Apr 15; 25(4): 425–430. Chinese. doi: 10.7499/j.issn.1008-8830.2211044
PMCID:
PMC10120347
AbstractArticlePDF–617K
5.
Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction in Stem Cell Model of MYH7 E848G Hypertrophic Cardiomyopathy
Alexander M. Loiben, Wei-Ming Chien, Clayton E. Friedman, Leslie S.-L. Chao, Gerhard Weber, Alex Goldstein, Nathan J. Sniadecki, Charles E. Murry, Kai-Chun Yang
Int J Mol Sci. 2023 Mar; 24(5): 4909. Published online 2023 Mar 3. doi: 10.3390/ijms24054909
PMCID:
PMC10003263
AbstractArticlePDF–4.4M
6.
A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy
Roman P. Myasnikov, Olga V. Kulikova, Alexey N. Meshkov, Anna A. Bukaeva, Anna V. Kiseleva, Alexandra I. Ershova, Anna V. Petukhova, Mikhail G. Divashuk, Evgenia D. Zotova, Evgeniia A. Sotnikova, Alexandra A. Abisheva, Alisa V. Muraveva, Sergey N. Koretskiy, Sergey V. Popov, Marina V. Utkina, Ekaterina A. Snigir, Sergey I. Mitrofanov, Ksenia D. Konureeva, Elena A. Mershina, Valentin E. Sinitsyn, Sergey M. Yudin, Oxana M. Drapkina
Genes (Basel) 2022 Oct; 13(10): 1750. Published online 2022 Sep 28. doi: 10.3390/genes13101750
PMCID:
PMC9602094
AbstractArticlePDF–2.3M
7.
Genetic Association of Beta-Myosin Heavy-Chain Gene (MYH7) with Cardiac Dysfunction
Memoona Yousaf, Waqas Ahmed Khan, Khurrum Shahzad, Haq Nawaz Khan, Basharat Ali, Misbah Hussain, Fazli Rabbi Awan, Hamid Mustafa, Farah Nadia Sheikh
Genes (Basel) 2022 Sep; 13(9): 1554. Published online 2022 Aug 29. doi: 10.3390/genes13091554
PMCID:
PMC9498774
AbstractArticlePDF–497K
8.
Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family
Peng Tu, Hairui Sun, Xiaohang Zhang, Qian Ran, Yihua He, Suzhen Ran
BMC Med Genomics. 2022; 15: 36. Published online 2022 Feb 24. doi: 10.1186/s12920-022-01186-z
PMCID:
PMC8876400
AbstractArticlePDF–1.1M
9.
Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7
Guido Antoniutti, Fiama Giuliana Caimi-Martinez, Jorge Álvarez-Rubio, Paula Morlanes-Gracia, Jaume Pons-Llinares, Blanca Rodríguez-Picón, Elena Fortuny-Frau, Laura Torres-Juan, Damian Heine-Suner, Tomas Ripoll-Vera
Genes (Basel) 2022 Feb; 13(2): 320. Published online 2022 Feb 9. doi: 10.3390/genes13020320
PMCID:
PMC8872101
AbstractArticlePDF–927K
10.
Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy
Valentina Ferradini, Luca Parca, Annamaria Martino, Chiara Lanzillo, Elisa Silvetti, Leonardo Calò, Stefano Caselli, Giuseppe Novelli, Manuela Helmer-Citterich, Federica Carla Sangiuolo, Ruggiero Mango
Genes (Basel) 2021 Jun; 12(6): 793. Published online 2021 May 22. doi: 10.3390/genes12060793
PMCID:
PMC8224781
AbstractArticlePDF–1.8M
11.
Hypertrophic cardiomyopathy β-cardiac myosin mutation (P710R) leads to hypercontractility by disrupting super relaxed state
Alison Schroer Vander Roest, Chao Liu, Makenna M. Morck, Kristina Bezold Kooiker, Gwanghyun Jung, Dan Song, Aminah Dawood, Arnav Jhingran, Gaspard Pardon, Sara Ranjbarvaziri, Giovanni Fajardo, Mingming Zhao, Kenneth S. Campbell, Beth L. Pruitt, James A. Spudich, Kathleen M. Ruppel, Daniel Bernstein
Proc Natl Acad Sci U S A. 2021 Jun 15; 118(24): e2025030118. Published online 2021 Jun 11. doi: 10.1073/pnas.2025030118
PMCID:
PMC8214707
AbstractArticlePDF–6.9M
12.
Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations
Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang
Orphanet J Rare Dis. 2020; 15: 344. Published online 2020 Dec 9. doi: 10.1186/s13023-020-01626-y
PMCID:
PMC7727133
AbstractArticlePDF–1.4M
13.
Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties
Carlos D. Vera, Chloe A. Johnson, Jonathan Walklate, Arjun Adhikari, Marina Svicevic, Srboljub M. Mijailovich, Ariana C. Combs, Stephen J. Langer, Kathleen M. Ruppel, James A. Spudich, Michael A. Geeves, Leslie A. Leinwand
J Biol Chem. 2019 Nov 15; 294(46): 17451–17462. Published online 2019 Oct 3. doi: 10.1074/jbc.RA119.010563
PMCID:
PMC6873187
AbstractArticlePDF–3.6M
14.
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat
Tom Schipper, Mario Van Poucke, Laurien Sonck, Pascale Smets, Richard Ducatelle, Bart J. G. Broeckx, Luc J. Peelman
Eur J Hum Genet. 2019 Nov; 27(11): 1724–1730. Published online 2019 Jun 4. doi: 10.1038/s41431-019-0431-4
PMCID:
PMC6871078
AbstractArticlePDF–877K
15.
Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy
Bo Wang, Jing Wang, Li-Feng Wang, Fan Yang, Lei Xu, Wen-Xia Li, Yang He, Lei Zuo, Qian-Li Yang, Hong Shao, Dan Hu, Li-Wen Liu
Mol Med Rep. 2019 Dec; 20(6): 5229–5238. Published online 2019 Oct 16. doi: 10.3892/mmr.2019.10754
PMCID:
PMC6854592
AbstractArticlePDF–909K
16.
A Novel Mutation of the Beta Myosin Heavy Chain Gene Responsible for Familial Hypertrophic Cardiomyopathy
Juan Wang, Shi‐Jie Xu, Hua Zhou, Li‐Jie Wang, Bo Hu, Fang Fang, Xu‐Min Zhang, Yi‐Wei Luo, Xiao‐Yan He, Shao‐Wei Zhuang, Xin‐Ming Li, Zhong‐Ming Liu, Da‐Yi Hu
Clin Cardiol. 2009 Sep; 32(9): E16–E21. Published online 2009 Jul 30. doi: 10.1002/clc.20520
PMCID:
PMC6652898
SummaryPDF–899K
17.
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
AbstractArticlePDF–2.9M
18.
Dilated cardiomyopathy myosin mutants have reduced force-generating capacity
Zoltan Ujfalusi, Carlos D. Vera, Srbolujub M. Mijailovich, Marina Svicevic, Elizabeth Choe Yu, Masataka Kawana, Kathleen M. Ruppel, James A. Spudich, Michael A. Geeves, Leslie A. Leinwand
J Biol Chem. 2018 Jun 8; 293(23): 9017–9029. Published online 2018 Apr 17. doi: 10.1074/jbc.RA118.001938
PMCID:
PMC5995530
AbstractArticlePDF–3.3M
19.
A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo
Francine Parker, Matthew Batchelor, Marcin Wolny, Ruth Hughes, Peter J. Knight, Michelle Peckham
J Mol Biol. 2018 May 11; 430(10): 1459–1478. doi: 10.1016/j.jmb.2018.04.006
PMCID:
PMC5958240
AbstractArticle
20.
Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation
Jie Wang, Ke Wan, Jiayu Sun, Weihao Li, Hong Liu, Yuchi Han, Yucheng Chen
Sci Rep. 2018; 8: 973. Published online 2018 Jan 17. doi: 10.1038/s41598-018-19372-4
PMCID:
PMC5772531
AbstractArticlePDF–1.5M

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