SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Role of Titin Missense Variants in Dilated Cardiomyopathy.
BACKGROUND The titin gene (TTN) encodes the largest human protein, which plays a central role in sarcomere organization and passive myocyte stiffness. TTN truncating mutations cause dilated cardiomyopathy (DCM); however, the role of TTN missense variants in DCM has been difficult to elucidate because of the presence of background TTN variation. METHODS AND RESULTS A cohort of 147 DCM index su...
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translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولIs atrial function in Chagas dilated cardiomyopathy more impaired than in idiopathic dilated cardiomyopathy?
AIMS Atrial function is an important component in overall cardiovascular performance. However, information on atrial function in dilated cardiomyopathy is limited. This study aimed to assess atrial function in dilated cardiomyopathy and to investigate if parameters of atrial function are more impaired in Chagas dilated cardiomyopathy (CDC) than in idiopathic dilated cardiomyopathy (IDC). METH...
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OBJECTIVE To evaluate the prevalence, clinical features, and pattern of inheritance of familial dilated cardiomyopathy (DCM) in heart transplant patients. PATIENTS AND METHOD Patients with idiopathic DCM who had undergone heart transplantation were invited to participate. Patients with alcohol abuse were excluded. A clinical evaluation, 12-lead ECG, echocardiogram, blood tests, and DNA extrac...
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Dilated cardiomyopathy (DCM), the most common form of primary myocardial disease, is an important cause of sudden cardiac death and heart failure and is the leading indication for heart transplantation in children and adults worldwide. Recent studies have revealed a strong genetic basis for idiopathic DCM, with many distinct genes causally implicated. Nevertheless, DCM is a genetically heteroge...
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ژورنال
عنوان ژورنال: Circulation: Genomic and Precision Medicine
سال: 2020
ISSN: 2574-8300
DOI: 10.1161/circgen.119.002892