FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2035073032> ?p ?o ?g. }

• W2035073032 endingPage "e114894" @default.
• W2035073032 startingPage "e114894" @default.
• W2035073032 abstract "Background Long QT Syndrome is an inherited channelopathy leading to sudden cardiac death due to ventricular arrhythmias. Despite that several genes have been associated with the disease, nearly 20% of cases remain without an identified genetic cause. Other genetic alterations such as copy number variations have been recently related to Long QT Syndrome. Our aim was to take advantage of current genetic technologies in a family affected by Long QT Syndrome in order to identify the cause of the disease. Methods Complete clinical evaluation was performed in all family members. In the index case, a Next Generation Sequencing custom-built panel, including 55 sudden cardiac death-related genes, was used both for detection of sequence and copy number variants. Next Generation Sequencing variants were confirmed by Sanger method. Copy number variations variants were confirmed by Multiplex Ligation dependent Probe Amplification method and at the mRNA level. Confirmed variants and copy number variations identified in the index case were also analyzed in relatives. Results In the index case, Next Generation Sequencing revealed a novel variant in TTN and a large deletion in KCNQ1, involving exons 7 and 8. Both variants were confirmed by alternative techniques. The mother and the brother of the index case were also affected by Long QT Syndrome, and family cosegregation was observed for the KCNQ1 deletion, but not for the TTN variant. Conclusions Next Generation Sequencing technology allows a comprehensive genetic analysis of arrhythmogenic diseases. We report a copy number variation identified using Next Generation Sequencing analysis in Long QT Syndrome. Clinical and familiar correlation is crucial to elucidate the role of genetic variants identified to distinguish the pathogenic ones from genetic noise." @default.
• W2035073032 created "2016-06-24" @default.
• W2035073032 creator A5000165758 @default.
• W2035073032 creator A5007821607 @default.
• W2035073032 creator A5008624040 @default.
• W2035073032 creator A5019450935 @default.
• W2035073032 creator A5022139137 @default.
• W2035073032 creator A5046880537 @default.
• W2035073032 creator A5047462819 @default.
• W2035073032 creator A5052938436 @default.
• W2035073032 creator A5064621245 @default.
• W2035073032 creator A5081393665 @default.
• W2035073032 creator A5087200583 @default.
• W2035073032 date "2014-12-10" @default.
• W2035073032 modified "2023-10-18" @default.
• W2035073032 title "Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology" @default.
• W2035073032 cites W10393762 @default.
• W2035073032 cites W1564417183 @default.
• W2035073032 cites W1970838979 @default.
• W2035073032 cites W1990470391 @default.
• W2035073032 cites W1995511730 @default.
• W2035073032 cites W1995615235 @default.
• W2035073032 cites W2010979332 @default.
• W2035073032 cites W2017952818 @default.
• W2035073032 cites W2023113347 @default.
• W2035073032 cites W2035747740 @default.
• W2035073032 cites W2046336333 @default.
• W2035073032 cites W2072329540 @default.
• W2035073032 cites W2082801720 @default.
• W2035073032 cites W2088459994 @default.
• W2035073032 cites W2090894083 @default.
• W2035073032 cites W2129790869 @default.
• W2035073032 cites W2144231356 @default.
• W2035073032 cites W2161252557 @default.
• W2035073032 doi "https://doi.org/10.1371/journal.pone.0114894" @default.
• W2035073032 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4262446" @default.
• W2035073032 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25494010" @default.
• W2035073032 hasPublicationYear "2014" @default.
• W2035073032 type Work @default.
• W2035073032 sameAs 2035073032 @default.
• W2035073032 citedByCount "26" @default.
• W2035073032 countsByYear W20350730322015 @default.
• W2035073032 countsByYear W20350730322016 @default.
• W2035073032 countsByYear W20350730322017 @default.
• W2035073032 countsByYear W20350730322018 @default.
• W2035073032 countsByYear W20350730322019 @default.
• W2035073032 countsByYear W20350730322020 @default.
• W2035073032 countsByYear W20350730322021 @default.
• W2035073032 countsByYear W20350730322022 @default.
• W2035073032 crossrefType "journal-article" @default.
• W2035073032 hasAuthorship W2035073032A5000165758 @default.
• W2035073032 hasAuthorship W2035073032A5007821607 @default.
• W2035073032 hasAuthorship W2035073032A5008624040 @default.
• W2035073032 hasAuthorship W2035073032A5019450935 @default.
• W2035073032 hasAuthorship W2035073032A5022139137 @default.
• W2035073032 hasAuthorship W2035073032A5046880537 @default.
• W2035073032 hasAuthorship W2035073032A5047462819 @default.
• W2035073032 hasAuthorship W2035073032A5052938436 @default.
• W2035073032 hasAuthorship W2035073032A5064621245 @default.
• W2035073032 hasAuthorship W2035073032A5081393665 @default.
• W2035073032 hasAuthorship W2035073032A5087200583 @default.
• W2035073032 hasBestOaLocation W20350730321 @default.
• W2035073032 hasConcept C104317684 @default.
• W2035073032 hasConcept C118441451 @default.
• W2035073032 hasConcept C120599132 @default.
• W2035073032 hasConcept C120821319 @default.
• W2035073032 hasConcept C126322002 @default.
• W2035073032 hasConcept C141231307 @default.
• W2035073032 hasConcept C169760540 @default.
• W2035073032 hasConcept C2775935837 @default.
• W2035073032 hasConcept C2777989426 @default.
• W2035073032 hasConcept C2779703243 @default.
• W2035073032 hasConcept C2993353509 @default.
• W2035073032 hasConcept C36823959 @default.
• W2035073032 hasConcept C51679486 @default.
• W2035073032 hasConcept C54355233 @default.
• W2035073032 hasConcept C68873052 @default.
• W2035073032 hasConcept C71924100 @default.
• W2035073032 hasConcept C76818968 @default.
• W2035073032 hasConcept C86803240 @default.
• W2035073032 hasConceptScore W2035073032C104317684 @default.
• W2035073032 hasConceptScore W2035073032C118441451 @default.
• W2035073032 hasConceptScore W2035073032C120599132 @default.
• W2035073032 hasConceptScore W2035073032C120821319 @default.
• W2035073032 hasConceptScore W2035073032C126322002 @default.
• W2035073032 hasConceptScore W2035073032C141231307 @default.
• W2035073032 hasConceptScore W2035073032C169760540 @default.
• W2035073032 hasConceptScore W2035073032C2775935837 @default.
• W2035073032 hasConceptScore W2035073032C2777989426 @default.
• W2035073032 hasConceptScore W2035073032C2779703243 @default.
• W2035073032 hasConceptScore W2035073032C2993353509 @default.
• W2035073032 hasConceptScore W2035073032C36823959 @default.
• W2035073032 hasConceptScore W2035073032C51679486 @default.
• W2035073032 hasConceptScore W2035073032C54355233 @default.
• W2035073032 hasConceptScore W2035073032C68873052 @default.
• W2035073032 hasConceptScore W2035073032C71924100 @default.
• W2035073032 hasConceptScore W2035073032C76818968 @default.
• W2035073032 hasConceptScore W2035073032C86803240 @default.

• next