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The Role of Quality Control in Targeted Next-generation Sequencing Library Preparation
Genomics, Proteomics & Bioinformatics, 2016 Next-generation sequencing (NGS) is getting routinely used in the diagnosis of hereditary diseases, such as human cardiomyopathies. Hence, it is of utter importance to secure high quality sequencing data, enabling the identification of disease-relevant ...
Rouven Nietsch +9 more
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Dilated cardiomyopathies and non-compaction cardiomyopathy [PDF]
Herz, 2020 AbstractDilated cardiomyopathy (DCM) is the most common form of cardiomyopathy and one of the most common causes of heart failure. It is characterized by left or biventricular dilation and a reduced systolic function. The causes are manifold and range from myocarditis to alcohol and other toxins, to rheumatological, endocrinological, and metabolic ...
Hänselmann, A. +3 more
openaire +2 more sources
Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy. [PDF]
, 2014 Contraction in the mammalian heart is controlled by the intracellular Ca2+ concentration as it is in all striated muscle, but the heart has an additional signalling system that comes into play to increase heart rate and cardiac output during exercise or ...
Marston, SB, Messer, AE
core +2 more sources
Acta bio-medica : Atenei Parmensis, 2019 The most common cardiomyopathies often present to primary care physicians with similar symptoms, despite the fact that they involve a variety of phenotypes and etiologies (1). Many have signs and symptoms common in heart failure, such as reduced ejection fraction, peripheral edema, fatigue, orthopnea, exertion dyspnea, paroxysmal nocturnal dyspnea ...
Precone, Vincenza +9 more
openaire +2 more sources
Pediatric Restrictive Cardiomyopathies
Frontiers in Pediatrics, 2022 Restrictive cardiomyopathy (RCM) is the least frequent phenotype among pediatric heart muscle diseases, representing only 2.5–3% of all cardiomyopathies diagnosed during childhood.
R. Ditaranto +13 more
semanticscholar +1 more source
Cardiomyopathies in China: A 2018–2019 state-of-the-art review
Chronic Diseases and Translational Medicine, 2020 Cardiomyopathies are diseases of the cardiac muscle and are often characterized by ventricular dilation, hypertrophy, and cardiac arrhythmia. Patients with cardiomyopathies often experience sudden death and cardiac failure and require cardiac ...
Tian-Rui Hua, Shu-Yang Zhang
doaj +1 more source
Targeting lipid metabolism as a new therapeutic strategy for inherited cardiomyopathies
Frontiers in Cardiovascular Medicine, 2023 Inherited cardiomyopathies caused by pathological genetic variants include multiple subtypes of heart disease. Advances in next-generation sequencing (NGS) techniques have allowed for the identification of numerous genetic variants as pathological ...
Karen R. Gaar-Humphreys +16 more
doaj +1 more source
miR-21 in Human Cardiomyopathies
Frontiers in Cardiovascular Medicine, 2021 miR-21 is a 22-nucleotide long microRNA that matches target mRNAs in a complementary base pairing fashion and regulates gene expression by repressing or degrading target mRNAs.
Surina Surina +5 more
semanticscholar +1 more source
Non-compaction cardiomyopathy – brief review [PDF]
, 2017 Left ventricular non-compaction cardiomyopathy is a genetic disorder characterized by the presence of two myocardial layers with numerous prominent trabeculations and deep inter-trabecular recesses that communicate with the ventricular cavity.
Berceanu, Mihaela +7 more
core +3 more sources
Frontiers in Cardiovascular Medicine, 2023 IntroductionCardiomyopathies are complex heart diseases with significant prevalence around the world. Among these, primary forms are the major contributors to heart failure and sudden cardiac death.
Pankaj Kumar Chauhan +3 more
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