FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3217387508> ?p ?o ?g. }

• W3217387508 endingPage "130063" @default.
• W3217387508 startingPage "130063" @default.
• W3217387508 abstract "Proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a key role in regulating low-density lipoprotein levels in plasma. While PCSK9 variants are causatively associated with familial hypercholesterolemia (FH), additional genotyping methods for FH targeting PCSK9 variants are required in a clinical setting. Loop-mediated isothermal amplification (LAMP) is a unique amplification method that amplifies a target gene under isothermal conditions (60–65 °C). However, a robust standardized method has not yet been established for LAMP-based genetic screening tests for genetic diseases, including FH. The present study aimed to develop a novel modification of the LAMP method designed to genotype single nucleotide variants (SNVs) and to apply it for the detection of PCSK9 variants. Using short quenching probes (≤ 10 nucleotides) for the loop structures of LAMP amplicons, accurate detection of SNVs was verified separately for each allele, without any additional procedures, within 3 h. The diagnostic performance of this method in detecting PCSK9 variants was validated in FH patients. All PCSK9 variants tested via conventional sequencing in FH patients were successfully detected using this novel LAMP method. We developed a LAMP-based genotyping method to detect PCSK9 variants in FH. Compared to conventional sequencing, our genotyping method is relatively convenient and time-efficient and is suitable for the screening of FH in clinical settings. Future studies on various genes are also warranted." @default.
• W3217387508 created "2021-12-06" @default.
• W3217387508 creator A5002650373 @default.
• W3217387508 creator A5025206192 @default.
• W3217387508 creator A5037046272 @default.
• W3217387508 creator A5048078824 @default.
• W3217387508 creator A5048871782 @default.
• W3217387508 creator A5059328563 @default.
• W3217387508 creator A5068951391 @default.
• W3217387508 date "2021-11-01" @default.
• W3217387508 modified "2023-09-25" @default.
• W3217387508 title "A novel loop-mediated isothermal amplification-based genotyping method and its application for identifying proprotein convertase subtilisin/kexin type 9 variants in familial hypercholesterolemia" @default.
• W3217387508 cites W1522066387 @default.
• W3217387508 cites W1923289550 @default.
• W3217387508 cites W1972021378 @default.
• W3217387508 cites W1979974453 @default.
• W3217387508 cites W1984068087 @default.
• W3217387508 cites W1996626325 @default.
• W3217387508 cites W2000338246 @default.
• W3217387508 cites W2011511504 @default.
• W3217387508 cites W2014940591 @default.
• W3217387508 cites W2040612932 @default.
• W3217387508 cites W2049089470 @default.
• W3217387508 cites W2053742705 @default.
• W3217387508 cites W2064035659 @default.
• W3217387508 cites W2064994526 @default.
• W3217387508 cites W2085646712 @default.
• W3217387508 cites W2102914911 @default.
• W3217387508 cites W2105275554 @default.
• W3217387508 cites W2109770394 @default.
• W3217387508 cites W2111163050 @default.
• W3217387508 cites W2135995702 @default.
• W3217387508 cites W2165332294 @default.
• W3217387508 cites W2165624352 @default.
• W3217387508 cites W2173732482 @default.
• W3217387508 cites W2174602966 @default.
• W3217387508 cites W2177590639 @default.
• W3217387508 cites W2227136327 @default.
• W3217387508 cites W2339024024 @default.
• W3217387508 cites W2515555873 @default.
• W3217387508 cites W2557981253 @default.
• W3217387508 cites W2562088101 @default.
• W3217387508 cites W2567679686 @default.
• W3217387508 cites W2611592008 @default.
• W3217387508 cites W2789182720 @default.
• W3217387508 cites W2801426688 @default.
• W3217387508 cites W2803511157 @default.
• W3217387508 cites W2887629426 @default.
• W3217387508 cites W2893712315 @default.
• W3217387508 cites W2965087854 @default.
• W3217387508 cites W2969740735 @default.
• W3217387508 cites W3013345449 @default.
• W3217387508 cites W3014013502 @default.
• W3217387508 cites W65377277 @default.
• W3217387508 doi "https://doi.org/10.1016/j.bbagen.2021.130063" @default.
• W3217387508 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34848321" @default.
• W3217387508 hasPublicationYear "2021" @default.
• W3217387508 type Work @default.
• W3217387508 sameAs 3217387508 @default.
• W3217387508 citedByCount "0" @default.
• W3217387508 crossrefType "journal-article" @default.
• W3217387508 hasAuthorship W3217387508A5002650373 @default.
• W3217387508 hasAuthorship W3217387508A5025206192 @default.
• W3217387508 hasAuthorship W3217387508A5037046272 @default.
• W3217387508 hasAuthorship W3217387508A5048078824 @default.
• W3217387508 hasAuthorship W3217387508A5048871782 @default.
• W3217387508 hasAuthorship W3217387508A5059328563 @default.
• W3217387508 hasAuthorship W3217387508A5068951391 @default.
• W3217387508 hasBestOaLocation W32173875081 @default.
• W3217387508 hasConcept C104317684 @default.
• W3217387508 hasConcept C135763542 @default.
• W3217387508 hasConcept C181199279 @default.
• W3217387508 hasConcept C2778163477 @default.
• W3217387508 hasConcept C2778824825 @default.
• W3217387508 hasConcept C2778849439 @default.
• W3217387508 hasConcept C2779120738 @default.
• W3217387508 hasConcept C2779811187 @default.
• W3217387508 hasConcept C2780072125 @default.
• W3217387508 hasConcept C2780948078 @default.
• W3217387508 hasConcept C31467283 @default.
• W3217387508 hasConcept C43554185 @default.
• W3217387508 hasConcept C54355233 @default.
• W3217387508 hasConcept C552990157 @default.
• W3217387508 hasConcept C55493867 @default.
• W3217387508 hasConcept C60635243 @default.
• W3217387508 hasConcept C70721500 @default.
• W3217387508 hasConcept C86803240 @default.
• W3217387508 hasConceptScore W3217387508C104317684 @default.
• W3217387508 hasConceptScore W3217387508C135763542 @default.
• W3217387508 hasConceptScore W3217387508C181199279 @default.
• W3217387508 hasConceptScore W3217387508C2778163477 @default.
• W3217387508 hasConceptScore W3217387508C2778824825 @default.
• W3217387508 hasConceptScore W3217387508C2778849439 @default.
• W3217387508 hasConceptScore W3217387508C2779120738 @default.
• W3217387508 hasConceptScore W3217387508C2779811187 @default.
• W3217387508 hasConceptScore W3217387508C2780072125 @default.
• W3217387508 hasConceptScore W3217387508C2780948078 @default.
• W3217387508 hasConceptScore W3217387508C31467283 @default.

• next