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Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024.
Front Med (Lausanne)
January 2025
Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, China.
Hereditary heart disease (HHD) is a series of cardiac disorders associated with monogenic or polygenic abnormalities and is one of the leading causes of sudden death, particularly in young adults. The updated European Cardiology guideline for cardiomyopathies provides the first comprehensive summary of genotyping, imaging, and therapy recommendations for inherited cardiomyopathies, but still lacks a comprehensive discussion of research advances and future trends in genetic diagnosis and therapy of HHD. Our research aims to fill this gap.
View Article and Find Full Text PDFExosomes Derived from Apelin-Pretreated Mesenchymal Stem Cells Ameliorate Sepsis-Induced Myocardial Dysfunction by Alleviating Cardiomyocyte Pyroptosis via Delivery of miR-34a-5p.
Int J Nanomedicine
January 2025
School of Medicine, South China University of Technology, Guangzhou, Guangdong, People's Republic of China.
Background: Exosomes sourced from mesenchymal stem cells (MSC-EXOs) have become a promising therapeutic tool for sepsis-induced myocardial dysfunction (SMD). Our previous study demonstrated that Apelin pretreatment enhanced the therapeutic benefit of MSCs in myocardial infarction by improving their paracrine effects. This study aimed to determine whether EXOs sourced from Apelin-pretreated MSCs (Apelin-MSC-EXOs) would have potent cardioprotective effects against SMD and elucidate the underlying mechanisms.
View Article and Find Full Text PDFState of precision medicine for heart failure with preserved ejection fraction in a new therapeutic age.
ESC Heart Fail
January 2025
Faculty of Medicine, Royal Brisbane and Women's Hospital, University of Queensland, Herston, Queensland, Australia.
Heart failure with preserved ejection fraction (HFpEF) is defined by heart failure (HF) with a left ventricular ejection fraction (LVEF) of at least 50%. HFpEF has a complex and heterogeneous pathophysiology with multiple co-morbidities contributing to its presentation. Establishing the diagnosis of HFpEF can be challenging.
View Article and Find Full Text PDFExploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.
Clin Genet
January 2025
Sorbonne Université- DMU BioGem-Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, APHP-Hôpital Universitaire Pitié Salpêtrière, Paris, France.
Titin truncating variants (TTNtv) are the main genetic cause of dilated cardiomyopathies (DCMs). The phenotype and prognosis of probands have been evaluated in several large cohorts. However, few data are available on intrafamilial expressivity.
View Article and Find Full Text PDFSarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner.
Cell Death Dis
January 2025
Department of Anatomical, Histological, Forensic Sciences and Orthopedics, Sapienza University of Rome, 00161, Rome, Italy.
Sarcoglycanopathies are heterogeneous proximo-distal diseases presenting severe muscle alterations. Although there are 6 different sarcoglycan isoforms, sarcoglycanopathies are caused exclusively by mutations in genes coding for one of the four sarcoglycan transmembrane proteins (alpha, beta, gamma and delta) forming the sarcoglycan complex (SGC) in skeletal and cardiac muscle. Little is known about the different roles of the SGC beyond the dystrophin glycoprotein complex (DGC) structural role.
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