Results 61 to 70 of about 13,305 (193)

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

, 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 ...
Fumagalli C., Fedele E., Mazzarotto F., Tofani L., Bertaccini B., Poggesi C., Beltrami M., Girolami F., Coppini R., Ferrantini C., Olivotto I., Raffaele Coppini, Bruno Bertaccini, Coppini, Raffaele, Bertaccini, Bruno, Mazzarotto, Francesco, Iacopo Olivotto, Ferrantini, Cecilia, Tofani, Lorenzo, Carlo Fumagalli, Francesca Girolami, Beltrami, Matteo, Elisa Fedele, Corrado Poggesi, Lorenzo Tofani, Matteo Beltrami, Francesco Mazzarotto, Fumagalli, Carlo, Cecilia Ferrantini, Girolami, Francesca, Poggesi, Corrado, Olivotto, Iacopo   +31 more
core   +1 more source

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source

The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle

ESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance

Chinese Medical Journal, 2019
. Background:. There have been few reports of mutations in the beta-myosin heavy chain (MYH7) gene in hypertrophic cardiomyopathy (HCM), which is associated with sudden cardiac death caused by HCM.
Hui-Ting Liu, Fang-Fang Ji, Ling Wei, An-Jun Zuo, Yu-Xiu Gao, Lin Qi, Bu Jin, Ji-Gang Wang, Peng Zhao, Ning-Ning Wang   +9 more
doaj   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.

PLoS ONE, 2017
Over 1,500 gene mutations are known to cause hypertrophic cardiomyopathy (HCM). Previous studies suggest that cardiac β-myosin heavy chain (MYH7) gene mutations are commonly associated with a more severe phenotype, compared to cardiac myosin binding ...
Shiv Kumar Viswanathan, Heather K Sanders, James W McNamara, Aravindakshan Jagadeesan, Arshad Jahangir, A Jamil Tajik, Sakthivel Sadayappan   +6 more
doaj   +1 more source

Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control

Stem Cell Research, 2021
MYH7 is a major gene responsible for hypertrophic cardiomyopathy (HCM). From patient’s skin fibroblasts, we derived an iPSC line (CDGEN1.16) harboring the heterozygous MYH7 R403L mutation, a hot-spot codon in HCM.
Vincent Fontaine, Laetitia Duboscq-Bidot, Charlène Jouve, Matthieu Hamlin, Angélique Curjol, Véronique Briand, Philip Janiak, Jean-Sébastien Hulot, Marie-Pierre Pruniaux-Harnist, Philippe Charron, Eric Villard   +10 more
doaj   +1 more source

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

Caracterización funcional de mutaciones en el gen MYH7 en pacientes con miocardiopatía hipertrófica (MCH) [PDF]

, 2014
La miocardipatía hipertrófica (MCH) es una enfermedad cardiaca de causa genética con un nivel relativamente alto de prevalencia. Varios genes que codifican proteínas sarcoméricas están involucrados en esta alteración.
Errea Dorronsoro, Javier
core   +2 more sources

Proteoforms in Disease: Biomedical Applications of Top‐Down Proteomics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The proteome is a dynamic landscape of proteoforms arising from genetic mutations, alternative splicing, and post‐translational modifications (PTMs), which collectively drive biological function and disease phenotypes. Mass spectrometry (MS)‐based proteomics has emerged as an essential technique for elucidating this molecular complexity ...
Holden T. Rogers, Zachery R. Gregorich, Megan S. Gant, Zhan Gao, Julia Chamot‐Rooke, Ying Ge   +5 more
wiley   +1 more source