FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2157454779> ?p ?o ?g. }

• W2157454779 endingPage "50" @default.
• W2157454779 startingPage "43" @default.
• W2157454779 abstract "Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in MYH7 encoding β-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort of probands with Ebstein anomaly in a large population-based study.Mutational analysis in a cohort of 141 unrelated probands with Ebstein anomaly was performed by next-generation sequencing and direct DNA sequencing of MYH7. Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found; 5 were novel and 2 were known to cause hypertrophic cardiomyopathy. All mutations except for 1 3-bp deletion were missense mutations; 1 was a de novo change. Mutation-positive probands and family members showed various congenital heart malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of MYH7 mutations was significantly different between probands with and without LVNC accompanying Ebstein anomaly (P<0.0001). LVNC segregated with the MYH7 mutation in the pedigrees of 3 of the probands, 1 of which also included another individual with Ebstein anomaly.Ebstein anomaly is a congenital heart malformation that is associated with mutations in MYH7. MYH7 mutations are predominantly found in Ebstein anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients." @default.
• W2157454779 created "2016-06-24" @default.
• W2157454779 creator A5001359628 @default.
• W2157454779 creator A5002005916 @default.
• W2157454779 creator A5035095307 @default.
• W2157454779 creator A5043630297 @default.
• W2157454779 creator A5045764263 @default.
• W2157454779 creator A5053021121 @default.
• W2157454779 creator A5065823316 @default.
• W2157454779 creator A5066751867 @default.
• W2157454779 creator A5067822470 @default.
• W2157454779 creator A5075666813 @default.
• W2157454779 creator A5076337803 @default.
• W2157454779 creator A5076540896 @default.
• W2157454779 creator A5083550145 @default.
• W2157454779 creator A5087546770 @default.
• W2157454779 creator A5088057956 @default.
• W2157454779 creator A5089073628 @default.
• W2157454779 date "2011-02-01" @default.
• W2157454779 modified "2023-10-12" @default.
• W2157454779 title "Mutations in the Sarcomere Gene <i>MYH7</i> in Ebstein Anomaly" @default.
• W2157454779 cites W1977153529 @default.
• W2157454779 cites W2017031270 @default.
• W2157454779 cites W2030839094 @default.
• W2157454779 cites W2036263688 @default.
• W2157454779 cites W2036299862 @default.
• W2157454779 cites W2067997771 @default.
• W2157454779 cites W2072120666 @default.
• W2157454779 cites W2072358357 @default.
• W2157454779 cites W2075563634 @default.
• W2157454779 cites W2075651430 @default.
• W2157454779 cites W2089798072 @default.
• W2157454779 cites W2097751477 @default.
• W2157454779 cites W2101740786 @default.
• W2157454779 cites W2103821926 @default.
• W2157454779 cites W2108701341 @default.
• W2157454779 cites W2114139217 @default.
• W2157454779 cites W2116351152 @default.
• W2157454779 cites W2116778079 @default.
• W2157454779 cites W2133337155 @default.
• W2157454779 cites W2158081637 @default.
• W2157454779 cites W2158334184 @default.
• W2157454779 cites W2158378290 @default.
• W2157454779 cites W2160651808 @default.
• W2157454779 cites W2161468919 @default.
• W2157454779 cites W2165448326 @default.
• W2157454779 cites W2169575327 @default.
• W2157454779 cites W2170572248 @default.
• W2157454779 doi "https://doi.org/10.1161/circgenetics.110.957985" @default.
• W2157454779 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21127202" @default.
• W2157454779 hasPublicationYear "2011" @default.
• W2157454779 type Work @default.
• W2157454779 sameAs 2157454779 @default.
• W2157454779 citedByCount "141" @default.
• W2157454779 countsByYear W21574547792012 @default.
• W2157454779 countsByYear W21574547792013 @default.
• W2157454779 countsByYear W21574547792014 @default.
• W2157454779 countsByYear W21574547792015 @default.
• W2157454779 countsByYear W21574547792016 @default.
• W2157454779 countsByYear W21574547792017 @default.
• W2157454779 countsByYear W21574547792018 @default.
• W2157454779 countsByYear W21574547792019 @default.
• W2157454779 countsByYear W21574547792020 @default.
• W2157454779 countsByYear W21574547792021 @default.
• W2157454779 countsByYear W21574547792022 @default.
• W2157454779 countsByYear W21574547792023 @default.
• W2157454779 crossrefType "journal-article" @default.
• W2157454779 hasAuthorship W2157454779A5001359628 @default.
• W2157454779 hasAuthorship W2157454779A5002005916 @default.
• W2157454779 hasAuthorship W2157454779A5035095307 @default.
• W2157454779 hasAuthorship W2157454779A5043630297 @default.
• W2157454779 hasAuthorship W2157454779A5045764263 @default.
• W2157454779 hasAuthorship W2157454779A5053021121 @default.
• W2157454779 hasAuthorship W2157454779A5065823316 @default.
• W2157454779 hasAuthorship W2157454779A5066751867 @default.
• W2157454779 hasAuthorship W2157454779A5067822470 @default.
• W2157454779 hasAuthorship W2157454779A5075666813 @default.
• W2157454779 hasAuthorship W2157454779A5076337803 @default.
• W2157454779 hasAuthorship W2157454779A5076540896 @default.
• W2157454779 hasAuthorship W2157454779A5083550145 @default.
• W2157454779 hasAuthorship W2157454779A5087546770 @default.
• W2157454779 hasAuthorship W2157454779A5088057956 @default.
• W2157454779 hasAuthorship W2157454779A5089073628 @default.
• W2157454779 hasBestOaLocation W21574547791 @default.
• W2157454779 hasConcept C104317684 @default.
• W2157454779 hasConcept C126322002 @default.
• W2157454779 hasConcept C164705383 @default.
• W2157454779 hasConcept C188997412 @default.
• W2157454779 hasConcept C2778658428 @default.
• W2157454779 hasConcept C2779946567 @default.
• W2157454779 hasConcept C501734568 @default.
• W2157454779 hasConcept C53345823 @default.
• W2157454779 hasConcept C54355233 @default.
• W2157454779 hasConcept C71924100 @default.
• W2157454779 hasConcept C74581901 @default.
• W2157454779 hasConcept C75563809 @default.
• W2157454779 hasConcept C86803240 @default.
• W2157454779 hasConceptScore W2157454779C104317684 @default.

• next