MYH7 in cardiomyopathy and skeletal muscle myopathy

Y Gao, L Peng, C Zhao - Molecular and Cellular Biochemistry, 2024 - Springer
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 …

[HTML][HTML] Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review

L Koshy, S Ganapathi, P Jeemon… - Indian Journal of …, 2023 - journals.lww.com
Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease that frequently
causes sudden cardiac death (SCD) among young adults. Several pathogenic mutations in …

[HTML][HTML] Computational and biophysical determination of pathogenicity of variants of unknown significance in cardiac thin filament

AB Mason, ML Lynn, AP Baldo, AE Deranek… - JCI insight, 2021 - ncbi.nlm.nih.gov
Point mutations within sarcomeric proteins have been associated with altered function and
cardiomyopathy development. Difficulties remain, however, in establishing the pathogenic …

Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TPM1 variant S215L

SS Halder, MJ Rynkiewicz, JG Creso… - PNAS …, 2023 - academic.oup.com
Hypertrophic cardiomyopathy (HCM) is an inherited disorder often caused by mutations to
sarcomeric genes. Many different HCM-associated TPM1 mutations have been identified but …

Risk stratification in hypertrophic cardiomyopathy. insights from genetic analysis and cardiopulmonary exercise testing

D Magrì, V Mastromarino, G Gallo, E Zachara… - Journal of clinical …, 2020 - mdpi.com
The role of genetic testing over the clinical and functional variables, including data from the
cardiopulmonary exercise test (CPET), in the hypertrophic cardiomyopathy (HCM) risk …

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy

E Petropoulou, M Soltani, AD Firoozabadi… - European journal of …, 2017 - Elsevier
Familial dilated cardiomyopathy (DCM) is characterized by ventricular dilation and
depressed myocardial performance. It is a genetically heterogeneous disorder associated …

Astragaloside IV promotes pharmacological effect of Descurainia sophia seeds on isoproterenol-induced cardiomyopathy in rats by synergistically modulating the …

X Liu, Q Chen, X Ji, W Yu, T Wang, J Han… - Frontiers in …, 2022 - frontiersin.org
Descurainia sophia seeds (DS), Astragalus mongholicus (AM), and their formulas are widely
used to treat heart failure caused by various cardiac diseases in traditional Chinese …

Recent advances in the molecular genetics of familial hypertrophic cardiomyopathy in South Asian descendants

J Kraker, SK Viswanathan, R Knöll… - Frontiers in …, 2016 - frontiersin.org
The South Asian population, numbered at 1.8 billion, is estimated to comprise around 20%
of the global population and 1% of the American population, and has one of the highest …

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation

A Nijak, M Alaerts, C Kuiperi, A Corveleyn… - European Journal of …, 2018 - Elsevier
Left ventricular non-compaction (cardiomyopathy)(LVN (C)) is a rare hereditary cardiac
condition, resulting from abnormal embryonic myocardial development. While it mostly …

Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies

DS Rani, A Kasala, PS Dhandapany… - Pharmacogenomics …, 2023 - Taylor & Francis
Background Mutations in Myosin Binding Protein C (MYBPC3) are one of the most frequent
causes of cardiomyopathies in the world, but not much data are available in India. Methods …