FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4367854392> ?p ?o ?g. }

• W4367854392 abstract "Mutations in the SCN5A gene has been recognized as resulting in a series of life‑threatening arrhythmias. However, it also causes idiopathic ventricular fibrillation (IVF) with J wave in inferior leads and prolonged S‑wave upstroke in precordial leads, which has not been previously reported. The present study aimed to study the mechanisms of a patient with IVF manifested with J wave in inferior leads and prolonged S‑wave upstroke in precordial leads. The electrocardiograms (ECG) of the proband were recorded and genetic testing was conducted. Patch‑clamp and immunocytochemical studies were performed in heterologously transfected 293 cells. The VF attacks was documented in a 55‑year‑old male proband with syncope episodes. 12‑lead ECG shown the transient J wave in the inferior leads and prolonged S‑wave upstroke in precordial V1‑V3 leads in the same timeframe. Genetic analysis revealed a novel 1 base deletion (G) at position 839 in exon 2 in SCN5A gene (C280S*fs61), which causes a severe truncation of the sodium channel. The functional study revealed that in 293 cells transfected with mutant channel, no sodium current could be recorded even though the immunocytochemical experiment confirmed the truncated sodium channel existed in cytosol. The kinetics of the wild‑type (WT) channel were not altered when co‑transfected with C280S*fs61 mutant which suggested a haploinsufficiency effect of sodium channel in the cells. The present study identified a novel C280Sfs*61 mutation that caused the ‘loss of function’ of the sodium channel by haploinsufficiency mechanism. The reduced sodium channel function in the heart may cause conduction delay that may underlie the manifestation of J wave and prolonged S‑wave upstroke associated with IVF." @default.
• W4367854392 created "2023-05-04" @default.
• W4367854392 creator A5043681412 @default.
• W4367854392 creator A5057296634 @default.
• W4367854392 creator A5062089359 @default.
• W4367854392 creator A5069898501 @default.
• W4367854392 creator A5087839978 @default.
• W4367854392 creator A5090826268 @default.
• W4367854392 date "2023-05-02" @default.
• W4367854392 modified "2023-10-17" @default.
• W4367854392 title "EENovel <i>SCN5A</i> frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead" @default.
• W4367854392 cites W1022680635 @default.
• W4367854392 cites W110863162 @default.
• W4367854392 cites W1949304110 @default.
• W4367854392 cites W1966498420 @default.
• W4367854392 cites W1968876226 @default.
• W4367854392 cites W1974252599 @default.
• W4367854392 cites W1975217049 @default.
• W4367854392 cites W1976882599 @default.
• W4367854392 cites W1987331415 @default.
• W4367854392 cites W1990358338 @default.
• W4367854392 cites W1992476481 @default.
• W4367854392 cites W1999833746 @default.
• W4367854392 cites W2003284163 @default.
• W4367854392 cites W2017951176 @default.
• W4367854392 cites W2041430132 @default.
• W4367854392 cites W2044873676 @default.
• W4367854392 cites W2045783879 @default.
• W4367854392 cites W2054345833 @default.
• W4367854392 cites W2055460611 @default.
• W4367854392 cites W2064691973 @default.
• W4367854392 cites W2068154011 @default.
• W4367854392 cites W2079571970 @default.
• W4367854392 cites W2082760049 @default.
• W4367854392 cites W2102141674 @default.
• W4367854392 cites W2103484788 @default.
• W4367854392 cites W2118856045 @default.
• W4367854392 cites W2132318327 @default.
• W4367854392 cites W2139997566 @default.
• W4367854392 cites W2151031760 @default.
• W4367854392 cites W2160222409 @default.
• W4367854392 cites W2170310500 @default.
• W4367854392 cites W2178758790 @default.
• W4367854392 cites W2232711434 @default.
• W4367854392 cites W2270246293 @default.
• W4367854392 cites W2328601125 @default.
• W4367854392 cites W2414545614 @default.
• W4367854392 cites W2607080688 @default.
• W4367854392 cites W2617018696 @default.
• W4367854392 cites W2727090809 @default.
• W4367854392 cites W2801251616 @default.
• W4367854392 cites W2898658884 @default.
• W4367854392 cites W2902697880 @default.
• W4367854392 cites W2970943434 @default.
• W4367854392 cites W2999429880 @default.
• W4367854392 cites W3083015148 @default.
• W4367854392 cites W3091789625 @default.
• W4367854392 cites W3206414117 @default.
• W4367854392 doi "https://doi.org/10.3892/etm.2023.11986" @default.
• W4367854392 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37206574" @default.
• W4367854392 hasPublicationYear "2023" @default.
• W4367854392 type Work @default.
• W4367854392 citedByCount "0" @default.
• W4367854392 crossrefType "journal-article" @default.
• W4367854392 hasAuthorship W4367854392A5043681412 @default.
• W4367854392 hasAuthorship W4367854392A5057296634 @default.
• W4367854392 hasAuthorship W4367854392A5062089359 @default.
• W4367854392 hasAuthorship W4367854392A5069898501 @default.
• W4367854392 hasAuthorship W4367854392A5087839978 @default.
• W4367854392 hasAuthorship W4367854392A5090826268 @default.
• W4367854392 hasBestOaLocation W43678543921 @default.
• W4367854392 hasConcept C104317684 @default.
• W4367854392 hasConcept C126322002 @default.
• W4367854392 hasConcept C127716648 @default.
• W4367854392 hasConcept C164705383 @default.
• W4367854392 hasConcept C178790620 @default.
• W4367854392 hasConcept C185592680 @default.
• W4367854392 hasConcept C501734568 @default.
• W4367854392 hasConcept C50952357 @default.
• W4367854392 hasConcept C537181965 @default.
• W4367854392 hasConcept C54355233 @default.
• W4367854392 hasConcept C68838962 @default.
• W4367854392 hasConcept C71924100 @default.
• W4367854392 hasConcept C86803240 @default.
• W4367854392 hasConceptScore W4367854392C104317684 @default.
• W4367854392 hasConceptScore W4367854392C126322002 @default.
• W4367854392 hasConceptScore W4367854392C127716648 @default.
• W4367854392 hasConceptScore W4367854392C164705383 @default.
• W4367854392 hasConceptScore W4367854392C178790620 @default.
• W4367854392 hasConceptScore W4367854392C185592680 @default.
• W4367854392 hasConceptScore W4367854392C501734568 @default.
• W4367854392 hasConceptScore W4367854392C50952357 @default.
• W4367854392 hasConceptScore W4367854392C537181965 @default.
• W4367854392 hasConceptScore W4367854392C54355233 @default.
• W4367854392 hasConceptScore W4367854392C68838962 @default.
• W4367854392 hasConceptScore W4367854392C71924100 @default.
• W4367854392 hasConceptScore W4367854392C86803240 @default.
• W4367854392 hasIssue "6" @default.
• W4367854392 hasLocation W43678543921 @default.
• W4367854392 hasLocation W43678543922 @default.

• next