Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F08%3A00027360" target="_blank" >RIV/00216224:14310/08:00027360 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay
Original language description
Duchenne and Becker muscular dystrophy (DMD/BMD) are associated with mutations in the DMD gene (Xp21); limb girdle muscular dystrophy type 2A (LGMD2A) with mutations in the CAPN3 gene (15q15). Pathological mutations connected with these phenotypes frequently disrupt the translational reading frame, giving rise to truncated proteins. Nonsense-mediated mRNA decay (NMD) is a type of quality control mechanism that selectively degrades mRNAs with premature termination codons (PTCs). Using real-time PCR, we performed quantitative analysis of DMD and CAPN3 transcripts carrying various mutated alleles and examined mRNA degradation by reason of NMD.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/LC06023" target="_blank" >LC06023: Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling.</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2008
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů