نتایج جستجو برای: ژن myh7

تعداد نتایج: 16107  

Journal: :European heart journal 2005
Karl Josef Osterziel Andreas Perrot

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...

2016
Ntobeko AB Ntusi Gasnat Shaboodien Motasim Badri Bongani M Mayosi Freedom Gumedze

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 ...

Journal: :Stem Cell Research 2021

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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