FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2786587171> ?p ?o ?g. }

• W2786587171 abstract "Introduction: Mutations in LMNA, which encodes lamin A and C, typically cause age-dependent cardiac phenotypes, including dilated cardiomyopathy, cardiac conduction disturbance (CCD), atrial fibrillation, and malignant ventricular arrhythmias (MVAs). Although the type of LMNA mutations have been reported to be associated with susceptibility to MVAs, the gene-based risk stratification for cardiac complications remains unexplored. Hypothesis: We hypothesized that truncation mutations might be associated with poor prognosis in LMNA mutation carriers, due to CCD, MVAs, and heart failure. Methods: The multicenter cohort included 77 LMNA mutation carriers (49 male, mean age: 45+/-17 yrs old) in 45 families from 7 institutions in Japan. All cause mortality and cardiac disorders were retrospectively analyzed. Results: Genetic analysis showed truncation mutations in 58 patients from 31 families and missense mutations in 19 patients from 14 families, in which 71 (92%) were phenotypically affected, and showed CCD (81%), lower left ventricular ejection fraction (LVEF<50%; 45%), atrial arrhythmias (AAs: 58%), and MVAs (26%). During the follow-up period (median 47 months), 9 (12%) patients died due to end-stage heart failure (n=7) or suddenly (n=2), but not differ between the the type of mutations. On the other hand, the onset of cardiac disorders indicated that subjects with truncation mutations had an earlier occurrence of CCD (41+/-12 vs. 51+/-10 yrs old; p=0.004) and LVEF<50% (47+/-12 vs. 56+/-7 yrs old; p=0.07) compared to those with missense mutations. In addition, the truncation mutation was found to be at risk for the early onset of CCD (Odds ratio [OR]=3.55, 95%CI:1.1-12.3, p=0.04) and the occurrence of AAs (OR=5.18 [1.4-20.4], p=0.01), LVEF<50% (OR=3.92 [1.0-16.6], p=0.04), and MVAs (OR=12.8 [1.9-259], p=0.006), as estimated using multivable analyses. However, no significant difference was observed in each cardiac phenotype between probands vs. relatives and male vs. female. Conclusions: The truncation mutations were associated with earlier manifestation of cardiac phenotypes in LMNA -related cardiomyopathy, suggesting that genetic analysis might be useful for diagnosis and risk stratification in LMNA mutation carriers." @default.
• W2786587171 created "2018-02-23" @default.
• W2786587171 creator A5000693907 @default.
• W2786587171 creator A5002326282 @default.
• W2786587171 creator A5005952657 @default.
• W2786587171 creator A5015910234 @default.
• W2786587171 creator A5016058595 @default.
• W2786587171 creator A5025184006 @default.
• W2786587171 creator A5026028224 @default.
• W2786587171 creator A5029922212 @default.
• W2786587171 creator A5036299282 @default.
• W2786587171 creator A5048767065 @default.
• W2786587171 creator A5050165315 @default.
• W2786587171 creator A5052029560 @default.
• W2786587171 creator A5053398138 @default.
• W2786587171 creator A5060144706 @default.
• W2786587171 creator A5061969022 @default.
• W2786587171 creator A5064721178 @default.
• W2786587171 creator A5066956159 @default.
• W2786587171 creator A5071346122 @default.
• W2786587171 creator A5078388970 @default.
• W2786587171 creator A5085128848 @default.
• W2786587171 creator A5085426100 @default.
• W2786587171 creator A5086167197 @default.
• W2786587171 creator A5090316816 @default.
• W2786587171 creator A5090353240 @default.
• W2786587171 date "2017-11-14" @default.
• W2786587171 modified "2023-09-26" @default.
• W2786587171 title "Abstract 21144: Gene-Based Risk Stratification for Cardiac Disorders in <i>LMNA</i> Mutation Carriers in Japan" @default.
• W2786587171 doi "https://doi.org/10.1161/circ.136.suppl_1.21144" @default.
• W2786587171 hasPublicationYear "2017" @default.
• W2786587171 type Work @default.
• W2786587171 sameAs 2786587171 @default.
• W2786587171 citedByCount "0" @default.
• W2786587171 crossrefType "journal-article" @default.
• W2786587171 hasAuthorship W2786587171A5000693907 @default.
• W2786587171 hasAuthorship W2786587171A5002326282 @default.
• W2786587171 hasAuthorship W2786587171A5005952657 @default.
• W2786587171 hasAuthorship W2786587171A5015910234 @default.
• W2786587171 hasAuthorship W2786587171A5016058595 @default.
• W2786587171 hasAuthorship W2786587171A5025184006 @default.
• W2786587171 hasAuthorship W2786587171A5026028224 @default.
• W2786587171 hasAuthorship W2786587171A5029922212 @default.
• W2786587171 hasAuthorship W2786587171A5036299282 @default.
• W2786587171 hasAuthorship W2786587171A5048767065 @default.
• W2786587171 hasAuthorship W2786587171A5050165315 @default.
• W2786587171 hasAuthorship W2786587171A5052029560 @default.
• W2786587171 hasAuthorship W2786587171A5053398138 @default.
• W2786587171 hasAuthorship W2786587171A5060144706 @default.
• W2786587171 hasAuthorship W2786587171A5061969022 @default.
• W2786587171 hasAuthorship W2786587171A5064721178 @default.
• W2786587171 hasAuthorship W2786587171A5066956159 @default.
• W2786587171 hasAuthorship W2786587171A5071346122 @default.
• W2786587171 hasAuthorship W2786587171A5078388970 @default.
• W2786587171 hasAuthorship W2786587171A5085128848 @default.
• W2786587171 hasAuthorship W2786587171A5085426100 @default.
• W2786587171 hasAuthorship W2786587171A5086167197 @default.
• W2786587171 hasAuthorship W2786587171A5090316816 @default.
• W2786587171 hasAuthorship W2786587171A5090353240 @default.
• W2786587171 hasConcept C104317684 @default.
• W2786587171 hasConcept C118552586 @default.
• W2786587171 hasConcept C126322002 @default.
• W2786587171 hasConcept C164705383 @default.
• W2786587171 hasConcept C179093185 @default.
• W2786587171 hasConcept C2775935837 @default.
• W2786587171 hasConcept C2776383484 @default.
• W2786587171 hasConcept C2778198053 @default.
• W2786587171 hasConcept C2778797674 @default.
• W2786587171 hasConcept C2780654407 @default.
• W2786587171 hasConcept C2780723820 @default.
• W2786587171 hasConcept C2994225774 @default.
• W2786587171 hasConcept C501734568 @default.
• W2786587171 hasConcept C54355233 @default.
• W2786587171 hasConcept C71924100 @default.
• W2786587171 hasConcept C75563809 @default.
• W2786587171 hasConcept C78085059 @default.
• W2786587171 hasConcept C86803240 @default.
• W2786587171 hasConceptScore W2786587171C104317684 @default.
• W2786587171 hasConceptScore W2786587171C118552586 @default.
• W2786587171 hasConceptScore W2786587171C126322002 @default.
• W2786587171 hasConceptScore W2786587171C164705383 @default.
• W2786587171 hasConceptScore W2786587171C179093185 @default.
• W2786587171 hasConceptScore W2786587171C2775935837 @default.
• W2786587171 hasConceptScore W2786587171C2776383484 @default.
• W2786587171 hasConceptScore W2786587171C2778198053 @default.
• W2786587171 hasConceptScore W2786587171C2778797674 @default.
• W2786587171 hasConceptScore W2786587171C2780654407 @default.
• W2786587171 hasConceptScore W2786587171C2780723820 @default.
• W2786587171 hasConceptScore W2786587171C2994225774 @default.
• W2786587171 hasConceptScore W2786587171C501734568 @default.
• W2786587171 hasConceptScore W2786587171C54355233 @default.
• W2786587171 hasConceptScore W2786587171C71924100 @default.
• W2786587171 hasConceptScore W2786587171C75563809 @default.
• W2786587171 hasConceptScore W2786587171C78085059 @default.
• W2786587171 hasConceptScore W2786587171C86803240 @default.
• W2786587171 hasIssue "suppl_1" @default.
• W2786587171 hasLocation W27865871711 @default.
• W2786587171 hasOpenAccess W2786587171 @default.
• W2786587171 hasPrimaryLocation W27865871711 @default.
• W2786587171 hasRelatedWork W1995868693 @default.

• next