Results 131 to 140 of about 18,051 (238)
Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants
Hypertrophic cardiomyopathy (HCM) is an autosomal-dominant disease caused by genetic variants in sarcomeric proteins, particularly in myosin binding protein C3 (MYBPC3) and myosin heavy chain 7 (MYH7).
Tatiana Flisikowska +11 more
doaj +1 more source
Skeletal Muscle PGC-1β Signaling is Sufficient to Drive an Endurance Exercise Phenotype and to Counteract Components of Detraining in Mice [PDF]
Peroxisome proliferator-activated receptor-γ coactivator (PGC)-1α and -1β serve as master transcriptional regulators of muscle mitochondrial functional capacity and are capable of enhancing muscle endurance when overexpressed in mice.
Ayala, Julio +8 more
core +1 more source
Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy [PDF]
Frameshift mutations in the TTN gene encoding titin are a major cause for inherited forms of dilated cardiomyopathy (DCM), a heart disease characterized by ventricular dilatation, systolic dysfunction, and progressive heart failure. To date, there are no
Alessandra, Moretti +22 more
core +1 more source
Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael +5 more
wiley +1 more source
ABSTRACT Background Skeletal muscle is essential for metabolic health and physical function. While resistance training promotes muscle hypertrophy, alternative therapeutic strategies are needed for individuals unable to engage in physical activity. Because beta2‐adrenergic stimulation induces muscle growth without mechanical load, we assessed muscle ...
Søren Jessen +9 more
wiley +1 more source
A case report of MYH7 mutation-induced restrictive cardiomyopathy
Abstract Background Restrictive cardiomyopathy (RCM) is characterized by impaired diastolic function and ventricular filling, often due to genetic and environmental factors. The MYH7 gene, encoding myosin heavy chain in muscle fibres critical for muscle contraction, has been implicated in RCM.
Shaozhen Zhang, Wang Zhao
openaire +2 more sources
Yumoto et al. show that ANGPTL2 regulates inflammation, fibrosis, and tissue remodeling in high‐fat diet‐induced premature aging. ANGPTL2 deficiency shortens lifespan but reduces inflammation, revealing its context‐dependent and organ‐specific roles in maintaining homeostasis.
Shinsei Yumoto +8 more
wiley +1 more source
Background: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject
Beatriz Piva e Mattos +6 more
doaj +1 more source
RFeusenarcchtional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier [PDF]
Background: Angiotensin and serotonin have been identified as inducers of cardiac hypertrophy. DNA polymorphisms at the genes encoding components of the angiotensin and serotonin systems have been associated with the risk of developing cardiovascular ...
Berrazueta, J.R. (José) +13 more
core
Background & aim: MYH7 and MYH7β genes play important roles in cardiac function. Endurance activity, on the other hand, challenges the structure and function of the heart. The aim of the present study was to determine and evaluate the effect of 14 weeks
R Rezaei, M Fathi
doaj

