Results 1 to 10 of about 13,305 (193)

MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients [PDF]

Neurology International, 2022
Cardiomyopathies (CMPs) are a heterogeneous group of diseases, frequently genetic, affecting the heart muscle. The symptoms range from asymptomatic to dyspnea, arrhythmias, syncope, and sudden cardiac death.
Tiina H Ojala
exaly   +6 more sources

Myogenic IL-6 Mediates Myofiber Type Transition in Porcine Skeletal Muscle Satellite Cells via the STAT3/myh7 Pathway [PDF]

Veterinary Sciences
Myofiber type determines pork quality, with type I fibers conferring superior traits via myosin heavy chain 7 (Myh7). As a crucial myokine, interleukin-6 (IL-6) plays important roles in skeletal muscle development, whether it participates in myh7 ...
Rui Cao, Hui Wei, Chao Li, Qiuming Deng, Chongfan Du, Ruiyi Lin, Tianfang Xiao, Weimin Lin   +7 more
doaj   +2 more sources

Integrated analysis of MYH6, MYH7, and MYH7B expression and their associated microRNAs in human end-stage heart failure [PDF]

Frontiers in Cardiovascular Medicine
BackgroundCardiac contractility is regulated by two myosin heavy chain (MHC) protein isoforms, α and β, encoded by the MYH6 and MYH7 genes. The intronic regions of these genes encode the microRNAs miR-208a and miR-208b, which are key regulators of ...
Zdenko Červenák, Filip Červenák, Simona Valášková, Nikola Chomaničová, Nikola Chomaničová, Nikoleta Katreničová, Michal Hulman, Andrea Gažová, Jan Kyselovic   +8 more
doaj   +2 more sources

Left Ventricular Structural, Physiological, and Transcriptomic Abnormalities in a Novel Porcine Hypertrophic Cardiomyopathy Model [PDF]

JACC: Basic to Translational Science
Summary: Hypertrophic cardiomyopathy (HCM) is a disease of heart muscle commonly caused by variants in genes encoding sarcomere-associated proteins. The mechanisms by which these variants lead to the phenotype are uncertain, partly because of the lack of
Eric M. Green, MD, PhD, Carlos del Rio, PhD, Kamel Shibbani, MD, David K. Meyerholz, DVM, PhD, Joshua Gorham, BA, Seong Kim, PhD, Daniel M. DeLaughter, PhD, Marcus P. Henze, PhD, Christopher S. Rogers, PhD, Lindsey M. Gifford, BA, Melissa Kafa, RDCS, Frank Rohret, J. Adam Goeken, Jared M. McLendon, PhD, Ryan L. Boudreau, PhD, Christine E. Seidman, MD, Jessica C. Sieren, PhD, Robert M. Weiss, MD, Jonathan G. Seidman, PhD, Abhay Divekar, MD, Ferhaan Ahmad, MD, PhD   +20 more
doaj   +2 more sources

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms. [PDF]

Clin Genet
Pediatric cardiomyopathies (CM) are a heterogeneous group of disorders. Their genetic basis remains poorly defined, particularly in children with early‐onset and apparently isolated forms. With a diagnostic yield of 62.7%, our findings suggest that whole‐exome sequencing could improve the diagnosis, genetic counseling, and clinical management of ...
Giovannangeli L, Daire E, Messaoudi K, Herent D, Desjeux N, Lacot-Leriche E, Sauval S, Dirani S, De Groote P, Klug D, Baudelet JB, Delarue A, Domanski O, Fontanges PA, Ghoumid J, Marsili L, Hermida A, Jobic F, Jedraszak G.   +18 more
europepmc   +2 more sources

Compound MYH7 Mutations [PDF]

JACC: Case Reports
Background: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disease associated with sudden cardiac death (SCD). Risk stratification is challenging in genotype-positive individuals with borderline phenotypic expression. Case Summary: A 54-
Arafat Hammad, MD, Amy Yeung, DO, Howard Goldschmidt, MD, Himanshu Gupta, MD, Dan Musat, MD, Suneet Mittal, MD, Mohammadali Habibi, MD   +6 more
doaj   +2 more sources

Sacubitril/Valsartan Ameliorates Crizotinib-Induced Cardiotoxicity in Mice

Reviews in Cardiovascular Medicine, 2023
Background: Lung cancer is one of the major cause of death globally. Crizotinib is a first-line drug used in treating non-small-cell lung cancer (NSCLC). However, the pathophysiological mechanisms underlying its cardiotoxicity are unknown.
Lijun Cheng, Junying Duan, Gary Tse, Tong Liu, Guangping Li   +4 more
doaj   +1 more source

Experience in genetic testing of hypertrophic cardiomyopathy using nanopore DNA sequencing

Российский кардиологический журнал, 2021
Aim. To investigate the application of the Oxford Nanopore Technologies’ third generation sequencing for the genetic testing of hypertrophic cardiomyopathy.Material and methods.
R. R. Salakhov, M. V. Golubenko, E. N. Pavlukova, A. N. Kucher, N. P. Babushkina, N. R. Valiahmetov, A. V. Markov, E. O. Belyaeva, A. F. Kanev, M. S. Nazarenko   +9 more
doaj   +1 more source

Generation of a homozygous MYH7 gene knockout human embryonic stem cell line (WAe009-A-69) using an episomal vector-based CRISPR/Cas9 system

Stem Cell Research, 2021
Myosin heavy chain 7 (MYH7) encodes the human heart myosin heavy chain subunit, which plays an important role in myocardial contraction. MYH7 is the main pathogenic gene that causes Hypertrophic cardiomyopathy (HCM) and Dilated cardiomyopathy (DCM).
Tianwei Guo, Youxu Jiang, Yuanxiu Song, Shuhong Ma, Yun Chang, Siyao Zhang, Hongyue Wang, Tao Dong, Hongfeng Jiang, Wenjing Lu   +9 more
doaj   +1 more source

Genetic Study of Hypertrophic Cardiomyopathy in Iranian children: The Role of a De novo Variant [PDF]

پژوهان, 2023
Background and Objectives: Hypertrophic cardiomyopathy is a common cardiac disease diagnosed in young adults and rarely detectable in childhood. Hypertrophic cardiomyopathy exhibits considerable diversity in its clinical and genetic characteristics.
Arastoo Kaki, Mohammad Dalili, Nejat Mahdieh, Mehrdad Noruzinia   +3 more
doaj