Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065718692> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W2065718692 endingPage "7433" @default.
- W2065718692 startingPage "7429" @default.
- W2065718692 abstract "A rapid and easy method to screen for aberrant cDNA would be a very useful diagnostic tool in genetics since a fraction of the DNA variants found affect RNA splicing. The currently used RT-PCR methods require new primer combinations to study each variant that might affect splicing. Since MLPA is routinely used to detect large genomic deletions and successfully detected exon skipping events in Duchenne muscular dystrophy in cDNA, we performed a pilot study to evaluate its value for BRCA1 cDNA. The effect of puromycin, DNase I and two different DNA cleaning protocols were tested in the RNA analysis of lymphocyte cultures. We used two samples from unrelated families with two different BRCA1 exon deletion events, two healthy unrelated controls and six samples from hereditary breast/ovarian cancer syndrome (HBOC) patients without BRCA1/2 mutations. Using RNA treated with DNase I and cleaned in a column system from puromycin-treated fractions, we were able to identify the two BRCA1 deletions. Additional HBOC patients did not show additional splice events. However, we were not able to get reproducible results. Therefore, the cDNA-MLPA technique using kit BRCA1 P002 is in our hands currently not reliable enough for routine RNA analysis and needs further optimization." @default.
- W2065718692 created "2016-06-24" @default.
- W2065718692 creator A5020400195 @default.
- W2065718692 creator A5021486900 @default.
- W2065718692 creator A5036526539 @default.
- W2065718692 creator A5048735965 @default.
- W2065718692 date "2012-02-17" @default.
- W2065718692 modified "2023-10-14" @default.
- W2065718692 title "Detection of exon skipping events in BRCA1 RNA using MLPA kit P002" @default.
- W2065718692 cites W1989280564 @default.
- W2065718692 cites W2005076597 @default.
- W2065718692 cites W2009329319 @default.
- W2065718692 cites W2009473938 @default.
- W2065718692 cites W2040422211 @default.
- W2065718692 cites W2063318299 @default.
- W2065718692 cites W2070730971 @default.
- W2065718692 cites W2092733198 @default.
- W2065718692 cites W2099652228 @default.
- W2065718692 cites W2105576511 @default.
- W2065718692 cites W2115957711 @default.
- W2065718692 cites W2126384617 @default.
- W2065718692 cites W2131974724 @default.
- W2065718692 cites W2142922493 @default.
- W2065718692 doi "https://doi.org/10.1007/s11033-012-1575-2" @default.
- W2065718692 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3358555" @default.
- W2065718692 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22350158" @default.
- W2065718692 hasPublicationYear "2012" @default.
- W2065718692 type Work @default.
- W2065718692 sameAs 2065718692 @default.
- W2065718692 citedByCount "1" @default.
- W2065718692 countsByYear W20657186922015 @default.
- W2065718692 crossrefType "journal-article" @default.
- W2065718692 hasAuthorship W2065718692A5020400195 @default.
- W2065718692 hasAuthorship W2065718692A5021486900 @default.
- W2065718692 hasAuthorship W2065718692A5036526539 @default.
- W2065718692 hasAuthorship W2065718692A5048735965 @default.
- W2065718692 hasBestOaLocation W20657186921 @default.
- W2065718692 hasConcept C104317684 @default.
- W2065718692 hasConcept C120599132 @default.
- W2065718692 hasConcept C153911025 @default.
- W2065718692 hasConcept C187882448 @default.
- W2065718692 hasConcept C2778776201 @default.
- W2065718692 hasConcept C2781188995 @default.
- W2065718692 hasConcept C36823959 @default.
- W2065718692 hasConcept C49105822 @default.
- W2065718692 hasConcept C54355233 @default.
- W2065718692 hasConcept C54458228 @default.
- W2065718692 hasConcept C67705224 @default.
- W2065718692 hasConcept C8185291 @default.
- W2065718692 hasConcept C86803240 @default.
- W2065718692 hasConceptScore W2065718692C104317684 @default.
- W2065718692 hasConceptScore W2065718692C120599132 @default.
- W2065718692 hasConceptScore W2065718692C153911025 @default.
- W2065718692 hasConceptScore W2065718692C187882448 @default.
- W2065718692 hasConceptScore W2065718692C2778776201 @default.
- W2065718692 hasConceptScore W2065718692C2781188995 @default.
- W2065718692 hasConceptScore W2065718692C36823959 @default.
- W2065718692 hasConceptScore W2065718692C49105822 @default.
- W2065718692 hasConceptScore W2065718692C54355233 @default.
- W2065718692 hasConceptScore W2065718692C54458228 @default.
- W2065718692 hasConceptScore W2065718692C67705224 @default.
- W2065718692 hasConceptScore W2065718692C8185291 @default.
- W2065718692 hasConceptScore W2065718692C86803240 @default.
- W2065718692 hasIssue "7" @default.
- W2065718692 hasLocation W20657186921 @default.
- W2065718692 hasLocation W20657186922 @default.
- W2065718692 hasLocation W20657186923 @default.
- W2065718692 hasLocation W20657186924 @default.
- W2065718692 hasOpenAccess W2065718692 @default.
- W2065718692 hasPrimaryLocation W20657186921 @default.
- W2065718692 hasRelatedWork W1978926049 @default.
- W2065718692 hasRelatedWork W2013123757 @default.
- W2065718692 hasRelatedWork W2024354411 @default.
- W2065718692 hasRelatedWork W2051461914 @default.
- W2065718692 hasRelatedWork W2119219430 @default.
- W2065718692 hasRelatedWork W2147283007 @default.
- W2065718692 hasRelatedWork W2733300197 @default.
- W2065718692 hasRelatedWork W2740218519 @default.
- W2065718692 hasRelatedWork W2978605482 @default.
- W2065718692 hasRelatedWork W3199371919 @default.
- W2065718692 hasVolume "39" @default.
- W2065718692 isParatext "false" @default.
- W2065718692 isRetracted "false" @default.
- W2065718692 magId "2065718692" @default.
- W2065718692 workType "article" @default.