FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079053696> ?p ?o ?g. }

• W2079053696 endingPage "104" @default.
• W2079053696 startingPage "98" @default.
• W2079053696 abstract "Atrial fibrillation (AF) is the most common cardiac arrhythmia in the clinic, and accounts for more than 15% of strokes. Mutations in cardiac sodium channel α, β1 and β2 subunit genes (SCN5A, SCN1B, and SCN2B) have been identified in AF patients. We hypothesize that mutations in the sodium channel β3 subunit gene SCN3B are also associated with AF. To test this hypothesis, we carried out a large scale sequencing analysis of all coding exons and exon–intron boundaries of SCN3B in 477 AF patients (28.5% lone AF) from the GeneID Chinese Han population. A novel A130V mutation was identified in a 46-year-old patient with lone AF, and the mutation was absent in 500 controls. Mutation A130V dramatically decreased the cardiac sodium current density when expressed in HEK293/Nav1.5 stable cell line, but did not have significant effect on kinetics of activation, inactivation, and channel recovery from inactivation. When co-expressed with wild type SCN3B, the A130V mutant SCN3B negated the function of wild type SCN3B, suggesting that A130V acts by a dominant negative mechanism. Western blot analysis with biotinylated plasma membrane protein extracts revealed that A130V did not affect cell surface expression of Nav1.5 or SCN3B, suggesting that mutant A130V SCN3B may not inhibit sodium channel trafficking, instead may affect conduction of sodium ions due to its malfunction as an integral component of the channel complex. This study identifies the first AF-associated mutation in SCN3B, and suggests that mutations in SCN3B may be a new pathogenic cause of AF." @default.
• W2079053696 created "2016-06-24" @default.
• W2079053696 creator A5000529473 @default.
• W2079053696 creator A5004700698 @default.
• W2079053696 creator A5005075703 @default.
• W2079053696 creator A5010515168 @default.
• W2079053696 creator A5010817329 @default.
• W2079053696 creator A5018955133 @default.
• W2079053696 creator A5020482360 @default.
• W2079053696 creator A5023051545 @default.
• W2079053696 creator A5024729608 @default.
• W2079053696 creator A5026170465 @default.
• W2079053696 creator A5041664829 @default.
• W2079053696 creator A5042586634 @default.
• W2079053696 creator A5043490198 @default.
• W2079053696 creator A5045776126 @default.
• W2079053696 creator A5054549912 @default.
• W2079053696 creator A5056284145 @default.
• W2079053696 creator A5068055129 @default.
• W2079053696 creator A5069323812 @default.
• W2079053696 creator A5070031114 @default.
• W2079053696 creator A5082974790 @default.
• W2079053696 date "2010-07-01" @default.
• W2079053696 modified "2023-09-25" @default.
• W2079053696 title "Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population" @default.
• W2079053696 cites W1491803208 @default.
• W2079053696 cites W1605369283 @default.
• W2079053696 cites W1985442801 @default.
• W2079053696 cites W1989815049 @default.
• W2079053696 cites W1993257882 @default.
• W2079053696 cites W2007860569 @default.
• W2079053696 cites W2017077495 @default.
• W2079053696 cites W2018216317 @default.
• W2079053696 cites W2019268667 @default.
• W2079053696 cites W2023329185 @default.
• W2079053696 cites W2051237605 @default.
• W2079053696 cites W2058819826 @default.
• W2079053696 cites W2059907657 @default.
• W2079053696 cites W2065255497 @default.
• W2079053696 cites W2094408720 @default.
• W2079053696 cites W2098192568 @default.
• W2079053696 cites W2119905314 @default.
• W2079053696 cites W2157988194 @default.
• W2079053696 cites W2163019510 @default.
• W2079053696 cites W2163178447 @default.
• W2079053696 cites W2170038311 @default.
• W2079053696 cites W2172003080 @default.
• W2079053696 doi "https://doi.org/10.1016/j.bbrc.2010.06.042" @default.
• W2079053696 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3132081" @default.
• W2079053696 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20558140" @default.
• W2079053696 hasPublicationYear "2010" @default.
• W2079053696 type Work @default.
• W2079053696 sameAs 2079053696 @default.
• W2079053696 citedByCount "76" @default.
• W2079053696 countsByYear W20790536962012 @default.
• W2079053696 countsByYear W20790536962013 @default.
• W2079053696 countsByYear W20790536962014 @default.
• W2079053696 countsByYear W20790536962015 @default.
• W2079053696 countsByYear W20790536962016 @default.
• W2079053696 countsByYear W20790536962017 @default.
• W2079053696 countsByYear W20790536962018 @default.
• W2079053696 countsByYear W20790536962019 @default.
• W2079053696 countsByYear W20790536962020 @default.
• W2079053696 countsByYear W20790536962021 @default.
• W2079053696 countsByYear W20790536962022 @default.
• W2079053696 countsByYear W20790536962023 @default.
• W2079053696 crossrefType "journal-article" @default.
• W2079053696 hasAuthorship W2079053696A5000529473 @default.
• W2079053696 hasAuthorship W2079053696A5004700698 @default.
• W2079053696 hasAuthorship W2079053696A5005075703 @default.
• W2079053696 hasAuthorship W2079053696A5010515168 @default.
• W2079053696 hasAuthorship W2079053696A5010817329 @default.
• W2079053696 hasAuthorship W2079053696A5018955133 @default.
• W2079053696 hasAuthorship W2079053696A5020482360 @default.
• W2079053696 hasAuthorship W2079053696A5023051545 @default.
• W2079053696 hasAuthorship W2079053696A5024729608 @default.
• W2079053696 hasAuthorship W2079053696A5026170465 @default.
• W2079053696 hasAuthorship W2079053696A5041664829 @default.
• W2079053696 hasAuthorship W2079053696A5042586634 @default.
• W2079053696 hasAuthorship W2079053696A5043490198 @default.
• W2079053696 hasAuthorship W2079053696A5045776126 @default.
• W2079053696 hasAuthorship W2079053696A5054549912 @default.
• W2079053696 hasAuthorship W2079053696A5056284145 @default.
• W2079053696 hasAuthorship W2079053696A5068055129 @default.
• W2079053696 hasAuthorship W2079053696A5069323812 @default.
• W2079053696 hasAuthorship W2079053696A5070031114 @default.
• W2079053696 hasAuthorship W2079053696A5082974790 @default.
• W2079053696 hasBestOaLocation W20790536962 @default.
• W2079053696 hasConcept C104317684 @default.
• W2079053696 hasConcept C126322002 @default.
• W2079053696 hasConcept C143065580 @default.
• W2079053696 hasConcept C153911025 @default.
• W2079053696 hasConcept C174510640 @default.
• W2079053696 hasConcept C178790620 @default.
• W2079053696 hasConcept C185592680 @default.
• W2079053696 hasConcept C2908647359 @default.
• W2079053696 hasConcept C36823959 @default.
• W2079053696 hasConcept C501734568 @default.

• next