نتایج جستجو برای: ژن myh7

تعداد نتایج: 16107  

Journal: :Revista espanola de cardiologia 2010
Paz Catalán Antonio Salinas Dolores Barettino

not be established. The early and late phases of gadolinium enhancement (Figure 3) were normal. In 68% of all post mortems and in recent studies using CMR, limited areas of noncompacted myocardium have been found in normal hearts and in patients with heart diseases, such as HCM, dilated cardiomyopathy (DCM), and even hypertensive cardiomyopathy. Of note in this case was the considerable diagnos...

Journal: :Clinical genetics 2014
K E Berge T P Leren

Genetic testing for hypertrophic cardiomyopathy (HCM) became available in Norway in 2003. Here, we describe the results of this testing in probands with HCM referred until the end of 2012. The translated exons of MYBPC3, MYH7, TNNI3, TNNT2, MYL2 and MYL3 were analyzed in two groups of probands. In Group 1, comprising 696 probands above 1 year of age, a mutation was found in 203 patients (29.2%)...

Journal: :European journal of human genetics : EJHG 2017
Marzia De Bortoli Chiara Calore Alessandra Lorenzon Martina Calore Giulia Poloni Elisa Mazzotti Ilaria Rigato Martina Perazzolo Marra Paola Melacini Sabino Iliceto Gaetano Thiene Cristina Basso Luciano Daliento Domenico Corrado Alessandra Rampazzo Barbara Bauce

Arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically distinct disorders of the myocardium. Here we describe for the first time co-inheritance of mutations in genes associated with ACM or HCM in two families with recurrence of both cardiomyopathies. Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein...

2018
Jinhua Wang Wan Li Xiangjin Zheng Xiaocong Pang Guanhua Du

FOXC1 is a vital member of FOX families which play important roles in biological processes including proliferation, differentiation, apoptosis, migration, invasion, metabolism, and longevity. Here we are focusing on roles of FOXC1 and their mechanisms in cancers. FOXC1 promoted progress of many cancers, such as breast cancer (especially basal-like breast cancer), hepatocellular carcinoma, gastr...

2016
Theresia Kraft Ante Radocaj

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease with an incidence of about 1 in 500 individuals. It is characterized by asymmetrical hypertrophy of the left ventricle in the absence of other causes for hypertrophy. HCM can vary from essentially asymptomatic to highly malignant up to end-stage heart failure or cause life-threatening arrhythmias with sudden cardiac death particu...

Journal: :European Heart Journal Supplements 2022

Abstract Background Dilated cardiomyopathy is one of the most common cardiomyopathies that at onset shows a with dysfunction, commonly expressed by reduced ejection fraction (EF) and which can lead to heart transplantation. Cardiac "laminopathies" are part complex set CMD. In many cases they show defect in myocardial electrical conduction. Mutations Lamina A / C genes have been associated high ...

Journal: :International journal of advanced research 2021

Introduction: Inherited restrictive cardiomyopathy (RCM) is a rare cause of RCM associated with cytoskeletal and sarcoma gene mutations. We describe case inherited due to MYH7s genetic mutation.Case description: A 66 year-old-woman was admitted for acute global heart failure. She had family history mutation MYH7 gene: sons sudden death at 30, one her daughters who 40 grandson 1. The transthorac...

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