ArticleJournal of molecular medicine (Berlin, Germany)2006
Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.
Article in Journal of molecular medicine (Berlin, Germany), 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2021Article
- Synemin Redefined: Multiple Binding Partners Results in Multifunctionality.Frontiers in cell and developmental biology · 2020Review
- Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.Journal of cardiovascular development and disease · 2017Review
- Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.Molecular genetics & genomic medicine · 2016Article
- The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant CaJournal of cellular and molecular medicine · 2016Article
- Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.The application of clinical genetics · 2014Review
- Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.Progress in pediatric cardiology · 2011Article
- Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2010Article
- A novel custom resequencing array for dilated cardiomyopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Article
- Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.Expert review of molecular diagnostics · 2010Review
- Protective action of tetramethylpyrazine phosphate against dilated cardiomyopathy in cTnT(R141W) transgenic mice.Acta pharmacologica Sinica · 2010Article
- Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.Nature medicine · 2009Article
- Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.Cardiovascular ultrasound · 2008Review
- Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.BMC medical genetics · 2008Article
- Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.Clinical chemistry · 2008Article
- Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.Journal of molecular medicine (Berlin, Germany) · 2008Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cardiomyopathies are complex myocardial diseases characterized by inappropriate ventricular hypertrophy (HCM) or dilation (DCM). Both disorders may lead to sudden death or progressive heart failure and exhibit familial aggregation with marked genetic heterogeneity. Many candidate genes were identified by linkage analysis, experimental animal studies, and expression analysis. A systematic assessment of the prevalence of different mutations in these genes requires high-throughput analyses. In this paper, we present a simple and reliable protocol for mutation screening by heteroduplex analysis which reduced costs and workload of sequencing. Employing denaturing gradient gel electrophoresis (DGGE), 11 known and 14 potential candidate genes for HCM and DCM were analyzed. DGGE assays allowed analysis of 286 of the 312 protein coding exons, performing only four alternative polymerase chain reaction protocols and only two different DGGE analysis conditions. Sensitivity for the detection of heteroduplexes proved excellent, even for GC-rich DNA fragments, which were analyzed by a combination of DGGE and constant denaturant gel electrophoresis. To confirm DGGE sensitivity in cases where no variants in our human DNA samples could be observed, we generated heteroduplexes from homologous human and chimpanzee DNA. The platform proved a valuable contribution to elucidating the genetic causes of DCM and HCM as demonstrated by the identification of 17 different known and novel mutations and 98 different polymorphisms in our setting.
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