Results 201 to 210 of about 18,051 (238)

MYH7 Mutations in Restrictive Cardiomyopathy

JACC: Advances
Restrictive cardiomyopathy (RCM) is a rare cardiac disease characterized by impaired ventricular filling and relaxation, with preserved systolic function. This study investigates the genetic basis of RCM and its impact on clinical outcomes, particularly heart transplantation (HTx).The aim of the study was to identify genetic variations associated with ...
Yiqi Zhao, Shun Liu, H. Mo, Xiumeng Hua, Xiao Chen, Yue Zhang, Weiteng Wang, Qian Zhao, Jiangping Song   +8 more
semanticscholar   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes

Circulation: Genomic and Precision Medicine
BACKGROUND: Pathogenic autosomal-dominant missense variants in MYH7 (myosin heavy chain 7), which encodes the sarcomeric protein (β-MHC [beta myosin heavy chain]) expressed in cardiac and skeletal myocytes, are a leading cause of hypertrophic ...
Clayton E. Friedman, S. Fayer, S. Pendyala, Wei-Ming Chien, Alexander M. Loiben, Linda Tran, Leslie S Chao, Ashley McKinstry, Dania Ahmed, Stephen D Farris, A. Stempien-Otero, Erica C. Jonlin, Charles E. Murry, Lea M. Starita, Douglas M. Fowler, Kai-Chun Yang   +15 more
semanticscholar   +3 more sources

Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.

JACC: Heart Failure, 2023
MD PhD Mark Jansen, MD Remco de Brouwer, MD Fahima Hassanzada, MSc Angela E Schoemaker, PhD Amand F. Schmidt, MSc Maria D Kooijman-Reumerman, MD Valentina Bracun, MD PhD Martijn G Slieker, PhD Dennis Dooijes, MD PhD Alexa MC Vermeer, MD PhD Arthur AM Wilde, MD PhD Ahmad S Amin, PhD Ronald H Lekanne Deprez, MD PhD Johanna C Herkert, MD PhD m Imke Christiaans, M. P. Rudolf A. de Boer, PhD Jan DH Jongbloed, M. P. J. Peter van Tintelen, M. P. Folkert W. Asselbergs, MD PhD Annette F Baas   +19 more
semanticscholar   +2 more sources

Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy

Circulation Genomic and Precision Medicine, 2023
BACKGROUND: The 2 sarcomere genes most commonly associated with hypertrophic cardiomyopathy (HCM), MYBPC3 (myosin-binding protein C3) and MYH7 (β-myosin heavy chain), are indistinguishable at presentation, and genotype-phenotype correlations have been ...
M. Beltrami, E. Fedele, C. Fumagalli, F. Mazzarotto, F. Girolami, C. Ferrantini, R. Coppini, Lorenzo Tofani, B. Bertaccini, C. Poggesi, I. Olivotto   +10 more
semanticscholar   +1 more source

Exploring MYH7 in Cardiomyopathies: Genetic Drivers and Clinical Outcomes

ABC Heart Fail Cardiomyop
Lucas Vieira Lacerda Pires, Vinícius Machado Correia, Layara Fernanda Vicente Pereira Lipari, F. Andrade, Fábio Fernandes, Vagner Madrini, Mariana Lombardi Peres de Carvalho, Giovanna Napolitano, Elisangela Aparecida da Silva, K. Vilalva, Vitória Pelegrino do Val, J. E. Krieger   +11 more
semanticscholar   +2 more sources

MYH7 mutation associated with two phenotypes of myopathy

Neurological Sciences, 2017
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD).
Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu   +5 more
openaire   +2 more sources

Abstract 18022: Multiplexed Generation and Functional Annotation of Hypertrophic Cardiomyopathy-Associated MYH7 Missense Variants in Isogenic Gene-Edited Stem Cell-Derived Cardiomyocytes

Circulation, 2023
Hypertrophic cardiomyopathy (HCM) is an inheritable cardiac condition affecting 1:200-500 people and is characterized by left ventricular hypertrophy that can cause heart failure.
Clayton E. Friedman, S. Fayer, S. Pendyala, Wei-Ming Chien, Alexander M. Loiben, Linda Tran, Leslie S Chao, Ashley McKinstry, Dania Ahmed, Elaheh Karbassi, Aidan Fenix, Charles E. Murry, Lea M. Starita, Douglas M. Fowler, Kai-Chun Yang   +14 more
semanticscholar   +1 more source

Attenuation of Cardiomyocyte Hypertrophy via Depletion Myh7 using CASAAV

Cardiovascular Toxicology, 2020
Myh7 is a classic biomarker for cardiac remodeling and a potential target to attenuate cardiomyocyte (CM) hypertrophy. This study aimed to identify the dominant function of Myh7 after birth and determine whether its removal would affect CM maturation or contribute to reversal of pathological hypertrophy phenotypes.
Peng Yue, Shutao Xia, Gang Wu, Lei Liu, Kaiyu Zhou, Hongyu Liao, Jiawen Li, Xiaolan Zheng, Yuxuan Guo, Yimin Hua, Donghui Zhang, Yifei Li   +11 more
openaire   +2 more sources

Computational drug design targeting MYH7 for hypertrophic cardiomyopathy integrating molecular docking, Density Functional Theory, and Molecular Dynamics Simulations

Journal of Applied Biological Sciences
Hypertrophic cardiomyopathy (HCM) is a genetic condition of the heart that is commonly associated with mutations of sarcomeric proteins such as MYH7. Currently available therapies are largely palliative and do not offer cure-focused treatment.
Nimra Hanif, Amna Arif Amna Arif, Sadia Ali Sadia Ali, Muqaddas Anees Muqaddas Anees, Mavra Anees Mavra Anees, Arooj Arshad, Muhammad Asim   +6 more
semanticscholar   +1 more source

MYH7 and MYH6 genetic variants, clinical and bioinformatic approaches suggest shared haplotype

European Heart Journal
Hypertrophic cardiomyopathy (HCM) is primarily characterized by unexplained left ventricular hypertrophy and affects approximately 1 in 500 individuals.
G. Streitenberger, L E Gomez, A. F. Fernandes Gomes, H. Cifuentes, A. Izquierdo, J. N. Oliveri, M. S. Medrano, A. Braun, M. Saenz, F. L. Simonetti, S. De La Fuente, R. S. Navarro, G. Corro, M. Delea, C. D. Bruque   +14 more
semanticscholar   +1 more source