Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations
نویسندگان
چکیده
منابع مشابه
Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
BACKGROUND Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort...
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چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
15 صفحه اولProfile of Iranian GJB2 Mutations in Young Population with Novel Mutation
Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...
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Background Advances in tissue characterization with late gadolinium enhancement (LGE) by cardiovascular magnetic resonance (CMR) have highlighted the importance of myocardial fibrosis (MF) in hypertrophic cardiomyopathy (HCM) by confirming that its presence and extent predicts adverse outcomes. Despite of the identification of several genes related to HCM, few studies have investigated the asso...
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Background The genetic association between cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and male infertility due to congenital bilateral absence of vas deferens (CBAVD) is well established. Mutant CFTR, however may also be involved in the etiology of male infertility in non-CBAVD cases. The present study was conducted to estimate the frequency of ΔI507 and ΔF508 CFT...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2015
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2015.81