نتایج جستجو برای: ژن myh7
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Dilated cardiomyopathy (DCM) is the third most common cause of heart failure after coronary artery disease and hypertension. DCM is the most frequent form of primary myocardial disease. Clinically, DCM is characterized by a progressive course of ventricular dilatation and systolic dysfunction. The different stages of DCM are reflected by the presentation of asymptomatic patients with left ventr...
BACKGROUND Little is known about the clinical characteristics, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy (HCM) in Africans. The objective of this study was to delineate the clinical and genetic features and outcome of HCM in African patients. METHODS Information on clinical presentation, electrocardiographic and echocardiographic findings, and outcome of ...
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 R403L mutation, hot-spot codon in HCM. We subsequently corrected mutated using CRISPR/Cas9 editing and obtained isogenic control (CDGEN1.16.40.5) preserving genomic background of patient. Both lines were pluripotent could be effi...
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