نتایج جستجو برای: ژن myh7
تعداد نتایج: 16107 فیلتر نتایج به سال:
Abstract Background Variants in MYH7 are responsible for disease 1–5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history MYH7-related DCM poorly described. Objectives We sought to determine phenotype prognosis DCM. also evaluated influence variant location on phenotypic expression. Methods studied data from 147 individuals DCM-causing varian...
BACKGROUND The clinical profile and prognosis of patients with hypertrophic cardiomyopathy, a primary cardiac muscle disease caused mostly by mutations in sarcomeric protein-encoding genes, have been linked to particular disease-causing mutations in the past. However, such associations are often based on cross-sectional observations, as longitudinal studies of the progression of the disease in ...
Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy and is associated with a number of potential outcomes, including impaired diastolic function, heart failure, and sudden cardiac death. Various etiologies have been described for HCM, including pressure overload and mutations in sarcomeric and non-sarcomeric genes. However, the molecular pathogenesis of HCM remain...
Cardiomyopathies (CMPs) are a heterogeneous group of diseases, frequently genetic, affecting the heart muscle. The symptoms range from asymptomatic to dyspnea, arrhythmias, syncope, and sudden cardiac death. This study is focused on MYH7 (beta-myosin heavy chain), as this gene commonly mutated in cardiomyopathy patients. Due high combined prevalence variants severe health outcomes, it one most ...
AIMS Disease mechanisms regarding hypertrophic cardiomyopathy (HCM) are largely unknown and disease onset varies. Sarcomere mutations might induce energy depletion for which until now there is no direct evidence at sarcomere level in human HCM. This study investigated if mutations in genes encoding myosin-binding protein C (MYBPC3) and myosin heavy chain (MYH7) underlie changes in the energetic...
Inherited cardiomyopathy is the major cause of sudden cardiac death (SCD) and heart failure (HF). The disease is associated with extensive genetic heterogeneity; pathogenic mutations in cardiac sarcomere protein genes, cytoskeletal protein genes and nuclear envelope protein genes have been linked to its etiology. Early diagnosis is conducive to clinical monitoring and allows for presymptomatic ...
AIMS Familial hypertrophic cardiomyopathy (HCM), frequently caused by sarcomeric gene mutations, is characterized by cellular dysfunction and asymmetric left-ventricular (LV) hypertrophy. We studied whether cellular dysfunction is due to an intrinsic sarcomere defect or cardiomyocyte remodelling. METHODS AND RESULTS Cardiac samples from 43 sarcomere mutation-positive patients (HCMmut: mutatio...
Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in 9 sarcomeric protein genes. The most commonly affected is beta-myosin heavy chain (MYH7), where missense mutations cluster in the head and neck regions and directly affect motor function. Comparable mutations have not been described in the light meromyosin (LMM) region of the myosin rod, nor would these be expected to directly...
MicroRNAs (miRNAs) regulate cardiac growth and conduction and play an important role in cardiac diseases (1 ). Several miRNAs are differentially produced in cardiac hypertrophic tissue, compared with normal tissue, and may contribute to the development of cardiomyocyte hypertrophy (2, 3 ). Hypertrophic cardiomyopathy (HCM) is frequently familial and caused by mutations in sarcomeric genes. To o...
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