839-3 Frequency, spectrum, and phenotype of hypertrophic cardiomyopathy patients with multiple sarcomeric mutations
نویسندگان
چکیده
منابع مشابه
Profile of microRNAs differentially produced in hearts from patients with hypertrophic cardiomyopathy and sarcomeric mutations.
MicroRNAs (miRNAs) regulate cardiac growth and conduction and play an important role in cardiac diseases (1 ). Several miRNAs are differentially produced in cardiac hypertrophic tissue, compared with normal tissue, and may contribute to the development of cardiomyocyte hypertrophy (2, 3 ). Hypertrophic cardiomyopathy (HCM) is frequently familial and caused by mutations in sarcomeric genes. To o...
متن کامل[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
INTRODUCTION AND OBJECTIVES Mutation of a sarcomeric gene is the most frequent cause of hypertrophic cardiomyopathy. For each such gene, however, previous studies have reported a range of different mutation frequencies, and clinical manifestations have been highly heterogeneous, both of which limit the use of genetic information in clinical practice. Our aim was to determine the frequency of mu...
متن کاملSpectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.
BACKGROUND Hypertrophic cardiomyopathy (HCM) is a common cardiac genetic disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited....
متن کاملPerturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.
RATIONALE High-myofilament Ca(2+) sensitivity has been proposed as a trigger of disease pathogenesis in familial hypertrophic cardiomyopathy (HCM) on the basis of in vitro and transgenic mice studies. However, myofilament Ca(2+) sensitivity depends on protein phosphorylation and muscle length, and at present, data in humans are scarce. OBJECTIVE To investigate whether high myofilament Ca(2+) ...
متن کاملPrediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.
Genomic technologies are redefining the understanding of genotype-phenotype relationships and over the past decade, many bioinformatics algorithms have been developed to predict functional consequences of single nucleotide variants. This article presents the data from a comprehensive computational workflow adopted to assess the biomedical impact of the DNA variants resulting from the experiment...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2004
ISSN: 0735-1097
DOI: 10.1016/s0735-1097(04)90914-x