Results 191 to 200 of about 18,051 (238)

Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy. [PDF]

BMC Cardiovasc Disord
Jiao K, Gong K, Luo Y, Liu R, Wang L, Yao Y, Xie L.   +6 more
europepmc   +1 more source

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals. [PDF]

Genes (Basel)
Dzhumaniiazova I, Zelenova E, Daniel V, Gusakova M, Kashtanova D, Ivanov M, Blinova O, Yudin V, Matkava L, Mitrofanov S, Nekrasova A, Petriaikina E, Erokhina M, Ivashechkin A, Maralova E, Marchenko O, Maksyutina V, Makarov V, Keskinov A, Kraevoy S, Yudin S.   +20 more
europepmc   +1 more source

Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy. [PDF]

World J Cardiol
Zhang LL, Wang B, Wang J, Zhao J, Liu LW.   +4 more
europepmc   +1 more source

Integrated fibre-specific methylome and proteome profiling of human skeletal muscle across males and females with fibre-type deconvolution. [PDF]

Skelet Muscle
Palmer AS, García-Domínguez E, Taylor MF, Garnham A, Seale K, Steele JR, Lee HC, Schittenhelm RB, Eynon N.   +8 more
europepmc   +1 more source

A novel mutation in MYH7 gene in hypertrophic cardiomyopathy

IHJ Cardiovascular Reports
Ratnjeet Kumar, Linda Koshy, Sivadasanpillai Harikrishnan   +2 more
openaire   +1 more source

Effect of trimetazidine dihydrochloride therapy on myocardial external efficiency in pre-clinical individuals with a hypertrophic cardiomyopathy pathogenic variant: results of the ENERGY trial. [PDF]

Cardiovasc Res
van Driel BO, Schoonvelde SAC, Borodzicz-Jazdzyk S, Huurman R, Visch J, Robbers L, Harms H, Verhagen J, Vermeer A, van den Aardweg J, van Rossum AC, Germans T, Michels M, van der Velden J.   +13 more
europepmc   +1 more source

Generation of the ICGi019-B-1 and ICGi019-B-2 lines via correction of the p.Met659Ile (c.1977G>A) variant in MYH7 of patient-specific induced pluripotent stem cells using CRISPR/Cas9. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Shulgina AE, Pavlova SV, Minina JM, Zakian SM, Dementyeva EV.   +4 more
europepmc   +1 more source

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MYH7 variants cause complex congenital heart disease

American Journal of Medical Genetics Part A, 2022
MYH7, encoding the myosin heavy chain sarcomeric β‐myosin heavy chain, is a common cause of both hypertrophic and dilated cardiomyopathy. Additionally, families with left ventricular noncompaction cardiomyopathy (LVNC) and congenital heart disease (CHD),
Alyssa L. Ritter, Jacqueline M M Leonard, Christopher Gray, K. Izumi, Katharine Levinson, Divya R Nair, M. O’Connor, J. Rossano, Venkatramanan Shankar, Jessica L. Chowns, Amy B. Marzolf, A. Owens, R. Ahrens-Nicklas   +12 more
semanticscholar   +3 more sources

MYH7 in cardiomyopathy and skeletal muscle myopathy

Molecular and Cellular Biochemistry, 2023
Myosin heavy chain gene 7 (MYH7), a sarcomeric gene encoding the myosin heavy chain (myosin-7), has attracted considerable interest as a result of its fundamental functions in cardiac and skeletal muscle contraction and numerous nucleotide variations of MYH7 are closely related to cardiomyopathy and skeletal muscle myopathy.
Yuan Gao, Lu Peng, Cuifen Zhao
semanticscholar   +3 more sources