FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4238520735> ?p ?o ?g. }

• W4238520735 endingPage "376" @default.
• W4238520735 startingPage "368" @default.
• W4238520735 abstract "Background— Mutations in genes responsible for the congenital long-QT syndrome, especially SCN5A , have been identified in some cases of sudden infant death syndrome. In a large-scale collaborative genetic screen, several SCN5A variants were identified in a Norwegian sudden infant death syndrome cohort (n=201). We present functional characterization of 7 missense variants (S216L, R680H, T1304M, F1486L, V1951L, F2004L, and P2006A) and 1 in-frame deletion allele (delAL586-587) identified by these efforts. Methods and Results— Whole-cell sodium currents were measured in tsA201 cells transiently transfected with recombinant wild-type or mutant SCN5A cDNA (hH1) coexpressed with the human β1 subunit. All variants exhibited defects in the kinetics and voltage dependence of inactivation. Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persistent sodium currents (range, 0.5% to 1.7% of peak current) typical of SCN5A mutations associated with long-QT syndrome. These same 5 variants also displayed significant depolarizing shifts in voltage dependence of inactivation (range, 5 to 14 mV) and faster recovery from inactivation, but F1486L uniquely exhibits a depolarizing shift in the conductance-voltage relationship. Three alleles (delAL586-587, R680H, and V1951L) exhibited increased persistent current only under conditions of internal acidosis (R680H) or when expressed in the context of a common splice variant (delQ1077), indicating that they have a latent dysfunctional phenotype. Conclusions— Our present results greatly expand the spectrum of functionally characterized SCN5A variants associated with sudden infant death syndrome and provide further biophysical correlates of arrhythmia susceptibility in this syndrome." @default.
• W4238520735 created "2022-05-12" @default.
• W4238520735 creator A5013560175 @default.
• W4238520735 creator A5014137444 @default.
• W4238520735 creator A5020038704 @default.
• W4238520735 creator A5021994330 @default.
• W4238520735 creator A5026839605 @default.
• W4238520735 creator A5038590830 @default.
• W4238520735 creator A5048748393 @default.
• W4238520735 creator A5074266882 @default.
• W4238520735 creator A5076144753 @default.
• W4238520735 creator A5076345016 @default.
• W4238520735 creator A5076706439 @default.
• W4238520735 date "2007-01-23" @default.
• W4238520735 modified "2023-10-09" @default.
• W4238520735 title "Cardiac Sodium Channel Dysfunction in Sudden Infant Death Syndrome" @default.
• W4238520735 cites W1490598572 @default.
• W4238520735 cites W1583128097 @default.
• W4238520735 cites W1603678324 @default.
• W4238520735 cites W1748810705 @default.
• W4238520735 cites W1966069741 @default.
• W4238520735 cites W1969936538 @default.
• W4238520735 cites W1974504450 @default.
• W4238520735 cites W1974559424 @default.
• W4238520735 cites W1989598680 @default.
• W4238520735 cites W1989906944 @default.
• W4238520735 cites W1998419541 @default.
• W4238520735 cites W2009908569 @default.
• W4238520735 cites W2023377077 @default.
• W4238520735 cites W2027085605 @default.
• W4238520735 cites W2027786686 @default.
• W4238520735 cites W2030226418 @default.
• W4238520735 cites W2033181089 @default.
• W4238520735 cites W2035932863 @default.
• W4238520735 cites W2040996722 @default.
• W4238520735 cites W2042850145 @default.
• W4238520735 cites W2043707154 @default.
• W4238520735 cites W2077441688 @default.
• W4238520735 cites W2081030337 @default.
• W4238520735 cites W2084997005 @default.
• W4238520735 cites W2085809780 @default.
• W4238520735 cites W2085873341 @default.
• W4238520735 cites W2091799955 @default.
• W4238520735 cites W2094779493 @default.
• W4238520735 cites W2113868537 @default.
• W4238520735 cites W2125254809 @default.
• W4238520735 cites W2133549670 @default.
• W4238520735 cites W2156705062 @default.
• W4238520735 cites W2162777885 @default.
• W4238520735 cites W2165850575 @default.
• W4238520735 cites W2566604956 @default.
• W4238520735 cites W4236729599 @default.
• W4238520735 cites W4238589708 @default.
• W4238520735 cites W4246140463 @default.
• W4238520735 cites W4254596062 @default.
• W4238520735 doi "https://doi.org/10.1161/circulationaha.106.646513" @default.
• W4238520735 hasPublicationYear "2007" @default.
• W4238520735 type Work @default.
• W4238520735 citedByCount "153" @default.
• W4238520735 countsByYear W42385207352012 @default.
• W4238520735 countsByYear W42385207352013 @default.
• W4238520735 countsByYear W42385207352014 @default.
• W4238520735 countsByYear W42385207352015 @default.
• W4238520735 countsByYear W42385207352016 @default.
• W4238520735 countsByYear W42385207352017 @default.
• W4238520735 countsByYear W42385207352018 @default.
• W4238520735 countsByYear W42385207352019 @default.
• W4238520735 countsByYear W42385207352020 @default.
• W4238520735 countsByYear W42385207352021 @default.
• W4238520735 countsByYear W42385207352022 @default.
• W4238520735 countsByYear W42385207352023 @default.
• W4238520735 crossrefType "journal-article" @default.
• W4238520735 hasAuthorship W4238520735A5013560175 @default.
• W4238520735 hasAuthorship W4238520735A5014137444 @default.
• W4238520735 hasAuthorship W4238520735A5020038704 @default.
• W4238520735 hasAuthorship W4238520735A5021994330 @default.
• W4238520735 hasAuthorship W4238520735A5026839605 @default.
• W4238520735 hasAuthorship W4238520735A5038590830 @default.
• W4238520735 hasAuthorship W4238520735A5048748393 @default.
• W4238520735 hasAuthorship W4238520735A5074266882 @default.
• W4238520735 hasAuthorship W4238520735A5076144753 @default.
• W4238520735 hasAuthorship W4238520735A5076345016 @default.
• W4238520735 hasAuthorship W4238520735A5076706439 @default.
• W4238520735 hasBestOaLocation W42385207351 @default.
• W4238520735 hasConcept C104317684 @default.
• W4238520735 hasConcept C118441451 @default.
• W4238520735 hasConcept C126322002 @default.
• W4238520735 hasConcept C151730666 @default.
• W4238520735 hasConcept C178790620 @default.
• W4238520735 hasConcept C185592680 @default.
• W4238520735 hasConcept C187212893 @default.
• W4238520735 hasConcept C2775935837 @default.
• W4238520735 hasConcept C2779343474 @default.
• W4238520735 hasConcept C2779703243 @default.
• W4238520735 hasConcept C2987955292 @default.
• W4238520735 hasConcept C2993353509 @default.
• W4238520735 hasConcept C4141045 @default.
• W4238520735 hasConcept C501734568 @default.

• next