نتایج جستجو برای: mybpc3
تعداد نتایج: 307 فیلتر نتایج به سال:
Alzheimer's disease (AD) represents the major form of dementia in the elderly. In recent years, accumulating evidence indicate that obesity may act as a risk factor for AD, while the genetic link between the two conditions remains unclear. This bioinformatics analysis aimed to detect the genetic link between AD and obesity on single nucleotide polymorphisms (SNPs), gene, and pathway levels base...
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...
The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3, MYH7, and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients. Mutations were detected in 40 % of cases. Presence of positive family history was significantly (p=0.002) associated with a higher genetic positive yield (49/78, 62.8 %). The majority of the de...
Background. Sarcomere protein genes such as MYBPC3, FLNC, TTN, RBM20 are associated with cardiomyopathies (CMP). A large number of rare genetic variants complicates the interpretation studies and assessing pathogenicity. Moreover, there is a lack an information about frequency in healthy Russian population. Polymorphisms these often act modifiers, aggravating clinical course CMP caused by mutat...
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