نتایج جستجو برای: mybpc3
تعداد نتایج: 307 فیلتر نتایج به سال:
Sudden cardiac arrest (SCA) in young adults is frequently caused by inherited cardiac diseases, particularly cardiomyopathies and ion channelopathies.1 Genetic testing can be essential in the follow-up of survivors and today ́s genetic diagnostics may include the parallel analysis of several SCA related genes, most commonly those associated with ion channelopathies and hypertrophic cardiomyopath...
INTRODUCTION Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation. METHODS Three hundred and eighty-seven consecutive unrelated patients with HCM were screened fo...
RATIONALE Mutations in the MYBPC3 gene encoding cardiac myosin-binding protein (cMyBP)-C are frequent causes of hypertrophic cardiomyopathy, but the mechanisms leading from mutations to disease remain elusive. OBJECTIVE The goal of the present study was therefore to gain insights into the mechanisms controlling the expression of MYBPC3 mutations. METHODS AND RESULTS We developed a cMyBP-C k...
Familial hypertrophic cardiomyopathy (HCM) is attributed to mutations in genes that encode for the sarcomere proteins, especially Mybpc3 and Myh7. Genotype-phenotype correlation studies show significant variability in HCM phenotypes among affected individuals with identical causal mutations. Morphological changes and clinical expression of HCM are the result of interactions with modifier genes....
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