Quantitative analysis of CAPN3 transcripts in LGMD2A patients: 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%3A14110%2F07%3A00022278" target="_blank" >RIV/00216224:14110/07:00022278 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/07:1617 RIV/00216208:11130/07:1617
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 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay
Original language description
We performed analysis of the CAPN3 gene in LGMD2A patients at both the mRNA level using reverse transcription-PCR, and at the DNA level using PCR and denaturing high performance liquid chromatography. The relationship observed in 12 patients between thequantity of CAPN3 mRNA, determined using real-time PCR, and the genotype leads us to propose that CAPN3 mRNAs which contain frame-shift mutations are degraded by nonsense-mediated mRNA decay
Czech name
Kvantitativní analýza transkriptů CAPN3 genu u pacientů s LGMD2A: zapojení mechanismu nonsense mediated mRNA decay
Czech description
Byla provedena analýza genu CAPN3 u pacientů s LGMD2A na úrovni mRNA (reverzní transkripce a PCR) a DNA (PCR a DHPLC). U 12 pacientů byl pak sledován vztah mezi množstvím mRNA genu CAPN3 (stanoveno metodou real-time PCR) a zjištěným genotypem. Výsledky ukázaly, že mRNA genu CAPN3, která nese mutace rušící čtecí rámec translace, je degradována mechanismem nonsense mediated mRNA decay
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NR8087" target="_blank" >NR8087: Diagnostics of neurodegenerative muscular disorders using mRNA/DNA analysis of selected genes and chromosome loci</a><br>
Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2007
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neuromuscular Disorders
ISSN
0960-8966
e-ISSN
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Volume of the periodical
17
Issue of the periodical within the volume
2
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
143
UT code for WoS article
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EID of the result in the Scopus database
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