Matches in SemOpenAlex for { <https://semopenalex.org/work/W2891076116> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W2891076116 abstract "Introduction: Turner syndrome (TS) is caused by the loss of the second sex chromosome, which occurs in approximately 1 in 2,000 female births. TS alone is an independent risk factor for aortic enlargement. 25 to 50% of those with TS also have a bicuspid aortic valve (BAV) which is present in most who have aortic dissection and rupture. Methods: We used whole exome sequencing to study the genes of 188 TS subjects with BAV (88 cases) or normal aortic valves (100 controls). Aorta diameters as markers of aortopathy severity converted into Z-scores were utilized as covariates with BAV status, and as a sole predictor of genetic variation. Enlarged aorta was defined as an ascending aorta Z-score > 2. Statistical analyses employed a kernel gene-based method, SKAT-O. Results: TS girls and women with BAV had significantly higher ascending aortic Z-scores than those without BAV (1.95 ± 1.97 vs 0.55 ± 1.01, t-test p= 1.6 x 10-5).Mutations in TIMP3 and CHADL achieved exome-wide significance for association with BAV/ao..." @default.
- W2891076116 created "2018-09-27" @default.
- W2891076116 creator A5047765663 @default.
- W2891076116 creator A5053827785 @default.
- W2891076116 creator A5065581376 @default.
- W2891076116 creator A5074835431 @default.
- W2891076116 creator A5078218872 @default.
- W2891076116 date "2016-11-11" @default.
- W2891076116 modified "2023-09-22" @default.
- W2891076116 title "Abstract 12066: TIMP3 and CHADL Mutations Are Common in Turner Syndrome Aortopathy" @default.
- W2891076116 hasPublicationYear "2016" @default.
- W2891076116 type Work @default.
- W2891076116 sameAs 2891076116 @default.
- W2891076116 citedByCount "0" @default.
- W2891076116 crossrefType "journal-article" @default.
- W2891076116 hasAuthorship W2891076116A5047765663 @default.
- W2891076116 hasAuthorship W2891076116A5053827785 @default.
- W2891076116 hasAuthorship W2891076116A5065581376 @default.
- W2891076116 hasAuthorship W2891076116A5074835431 @default.
- W2891076116 hasAuthorship W2891076116A5078218872 @default.
- W2891076116 hasConcept C126322002 @default.
- W2891076116 hasConcept C164705383 @default.
- W2891076116 hasConcept C2778249958 @default.
- W2891076116 hasConcept C2779683239 @default.
- W2891076116 hasConcept C2779980429 @default.
- W2891076116 hasConcept C2779993142 @default.
- W2891076116 hasConcept C2780714102 @default.
- W2891076116 hasConcept C2781355080 @default.
- W2891076116 hasConcept C71924100 @default.
- W2891076116 hasConceptScore W2891076116C126322002 @default.
- W2891076116 hasConceptScore W2891076116C164705383 @default.
- W2891076116 hasConceptScore W2891076116C2778249958 @default.
- W2891076116 hasConceptScore W2891076116C2779683239 @default.
- W2891076116 hasConceptScore W2891076116C2779980429 @default.
- W2891076116 hasConceptScore W2891076116C2779993142 @default.
- W2891076116 hasConceptScore W2891076116C2780714102 @default.
- W2891076116 hasConceptScore W2891076116C2781355080 @default.
- W2891076116 hasConceptScore W2891076116C71924100 @default.
- W2891076116 hasLocation W28910761161 @default.
- W2891076116 hasOpenAccess W2891076116 @default.
- W2891076116 hasPrimaryLocation W28910761161 @default.
- W2891076116 hasRelatedWork W1156230949 @default.
- W2891076116 hasRelatedWork W1948796298 @default.
- W2891076116 hasRelatedWork W2103230031 @default.
- W2891076116 hasRelatedWork W2327016653 @default.
- W2891076116 hasRelatedWork W2327242368 @default.
- W2891076116 hasRelatedWork W2605261710 @default.
- W2891076116 hasRelatedWork W2746342523 @default.
- W2891076116 hasRelatedWork W2760516565 @default.
- W2891076116 hasRelatedWork W2786418054 @default.
- W2891076116 hasRelatedWork W2806664743 @default.
- W2891076116 hasRelatedWork W2887300659 @default.
- W2891076116 hasRelatedWork W2894549651 @default.
- W2891076116 hasRelatedWork W2905275552 @default.
- W2891076116 hasRelatedWork W2909448516 @default.
- W2891076116 hasRelatedWork W2951036174 @default.
- W2891076116 hasRelatedWork W3029045245 @default.
- W2891076116 hasRelatedWork W3092892668 @default.
- W2891076116 hasRelatedWork W3100713669 @default.
- W2891076116 hasRelatedWork W3197360024 @default.
- W2891076116 hasRelatedWork W68315705 @default.
- W2891076116 isParatext "false" @default.
- W2891076116 isRetracted "false" @default.
- W2891076116 magId "2891076116" @default.
- W2891076116 workType "article" @default.