About: Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay

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About: Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. 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. (en) Duchennova a Beckerova svalová dystrofie (DMD/BMD) je spojená s mutacemi v DMD genu (Xp21);pletencová svalová dystrofie typu 2A (LGMD2A) s mutacemi v CAPN3 genu (15q15). Patologické mutace u těchto fenotypů zpravidla porušují čtecí rámec translace, což vede ke vzniku zkrácených proteinů. Nonsense-mediated mRNA decay (NMD) je typ kontrolního mechanismu, který rozpoznává a degraduje mRNA s kodonem předčasně ukončujícím translaci. Použitím real-time PCR jsme provedli kvantitativní analýzu DMD a CAPN3 transkriptů nesoucích různé typy mutací a sledovali jsme úroveň mRNA degradace v závislosti na NMD. (cs)
Title	Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay (en) Kvantitativní analýza CAPN3 a DMD transkriptů: účast nonsense-mediated mRNA decay (cs)
skos:prefLabel	Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay (en) Kvantitativní analýza CAPN3 a DMD transkriptů: účast nonsense-mediated mRNA decay (cs)
skos:notation	RIV/00216224:14310/08:00027360!RIV09-MSM-14310___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(LC06023), Z(MSM0021622415)
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Hermanová, Markéta Vondráček, Petr Fajkusová, Lenka Sedláčková, Jana
http://linked.open.../riv/druhVysledku	D - Článek ve sborníku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	391229
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/08:00027360
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Duchenne muscular dystrophy; limb girdle muscular dystrophy type 2A; Nonsense-mediated mRNA decay; real-time PCR; premature termination codon (en)
http://linked.open.../riv/klicoveSlovo	Duchenne muscular dystrophy real-time PCR Nonsense-mediated mRNA decay limb girdle muscular dystrophy type 2A premature termination codon
http://linked.open...ontrolniKodProRIV	[284ABC19D14D]
http://linked.open...v/mistoKonaniAkce	Newcastle upon Tyne
http://linked.open...i/riv/mistoVydani	USA
http://linked.open...i/riv/nazevZdroje	Neuromuscular Disorders
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling.
http://linked.open...UplatneniVysledku	2008
http://linked.open...iv/tvurceVysledku	Fajkusová, Lenka Hermanová, Markéta Sedláčková, Jana Vondráček, Petr Stehlíková, K.
http://linked.open...vavai/riv/typAkce	WRD - Světová
http://linked.open...ain/vavai/riv/wos	000259774900307
http://linked.open.../riv/zahajeniAkce	2008-08-29 (xsd:date)
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations
issn	0960-8966
number of pages	1 (xsd:int)
http://purl.org/ne...btex#hasPublisher	Pergamon-Elsevier Science Ltd
http://localhost/t...ganizacniJednotka	14310

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