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 …
(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 …
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
Point mutations within sarcomeric proteins have been associated with altered function and
cardiomyopathy development. Difficulties remain, however, in establishing the pathogenic …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
causes of cardiomyopathies in the world, but not much data are available in India. Methods …