Matches in SemOpenAlex for { <https://semopenalex.org/work/W2779229275> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2779229275 abstract "PCD is a clinically and genetically heterogeneous condition in which motile ciliary defects give rise to respiratory disease and abnormal organ positioning (situs) in ~50% of patients. This can be complicated by CHD and visceral and vascular abnormalities. CHD has been reported in 3.5-6% of patients in studies based in the USA. Mutations in most but not all PCD genes have been associated with situs abnormalities. However, much remains unknown about clinical and genetic risk factors for situs and laterality defects (LD). Clinical and diagnostic data from 389 PCD patients were analysed to determine the prevalence of situs and LD and the underlying clinical and genetic risk factors. 51% had abnormal situs and 25% had CHD and/or LD (11% CHD, 8% LD, 6% both). Strikingly, patients with mutations in a subset of 9 PCD genes all had normal situs. Univariate modelling showed that patients with consanguineous parents (43%) had higher odds ratio (1.77) of situs abnormalities than those with non-consanguineous parents (p=0.02, 95% CI [1.09, 2.88]). CHD was observed in the normal and abnormal situs groups. However, patients with abnormal situs had higher odds (7.98) of having CHD and/or LD than those with normal situs (p The prevalence of CHD and LD identified in this cohort is higher than previously reported. Analysis of situs abnormality according to genotype reinforces the clear stratification of a subset of PCD genes not associated to situs abnormalities. Parental consanguinity is a risk factor for situs abnormalities. Situs abnormality is a risk factor for CHD and/or LD. Ciliopathy mutations may represent an unrecognised cause of CHD." @default.
- W2779229275 created "2018-01-05" @default.
- W2779229275 creator A5012579486 @default.
- W2779229275 creator A5013522956 @default.
- W2779229275 creator A5015020297 @default.
- W2779229275 creator A5016496743 @default.
- W2779229275 creator A5036933685 @default.
- W2779229275 creator A5045256321 @default.
- W2779229275 creator A5050915362 @default.
- W2779229275 creator A5059460291 @default.
- W2779229275 creator A5067795136 @default.
- W2779229275 creator A5082842521 @default.
- W2779229275 date "2017-09-01" @default.
- W2779229275 modified "2023-09-26" @default.
- W2779229275 title "Genetic risk factors for laterality defects and congenital heart disease (CHD) in patients with primary ciliary dyskinesia (PCD)" @default.
- W2779229275 doi "https://doi.org/10.1183/1393003.congress-2017.pa1852" @default.
- W2779229275 hasPublicationYear "2017" @default.
- W2779229275 type Work @default.
- W2779229275 sameAs 2779229275 @default.
- W2779229275 citedByCount "0" @default.
- W2779229275 crossrefType "proceedings-article" @default.
- W2779229275 hasAuthorship W2779229275A5012579486 @default.
- W2779229275 hasAuthorship W2779229275A5013522956 @default.
- W2779229275 hasAuthorship W2779229275A5015020297 @default.
- W2779229275 hasAuthorship W2779229275A5016496743 @default.
- W2779229275 hasAuthorship W2779229275A5036933685 @default.
- W2779229275 hasAuthorship W2779229275A5045256321 @default.
- W2779229275 hasAuthorship W2779229275A5050915362 @default.
- W2779229275 hasAuthorship W2779229275A5059460291 @default.
- W2779229275 hasAuthorship W2779229275A5067795136 @default.
- W2779229275 hasAuthorship W2779229275A5082842521 @default.
- W2779229275 hasConcept C118552586 @default.
- W2779229275 hasConcept C126322002 @default.
- W2779229275 hasConcept C156957248 @default.
- W2779229275 hasConcept C2777714996 @default.
- W2779229275 hasConcept C2778206077 @default.
- W2779229275 hasConcept C2779104077 @default.
- W2779229275 hasConcept C2779379686 @default.
- W2779229275 hasConcept C2780074459 @default.
- W2779229275 hasConcept C2910136558 @default.
- W2779229275 hasConcept C50440223 @default.
- W2779229275 hasConcept C50965678 @default.
- W2779229275 hasConcept C71924100 @default.
- W2779229275 hasConceptScore W2779229275C118552586 @default.
- W2779229275 hasConceptScore W2779229275C126322002 @default.
- W2779229275 hasConceptScore W2779229275C156957248 @default.
- W2779229275 hasConceptScore W2779229275C2777714996 @default.
- W2779229275 hasConceptScore W2779229275C2778206077 @default.
- W2779229275 hasConceptScore W2779229275C2779104077 @default.
- W2779229275 hasConceptScore W2779229275C2779379686 @default.
- W2779229275 hasConceptScore W2779229275C2780074459 @default.
- W2779229275 hasConceptScore W2779229275C2910136558 @default.
- W2779229275 hasConceptScore W2779229275C50440223 @default.
- W2779229275 hasConceptScore W2779229275C50965678 @default.
- W2779229275 hasConceptScore W2779229275C71924100 @default.
- W2779229275 hasLocation W27792292751 @default.
- W2779229275 hasOpenAccess W2779229275 @default.
- W2779229275 hasPrimaryLocation W27792292751 @default.
- W2779229275 hasRelatedWork W161443046 @default.
- W2779229275 hasRelatedWork W1992914659 @default.
- W2779229275 hasRelatedWork W1998171023 @default.
- W2779229275 hasRelatedWork W2031067322 @default.
- W2779229275 hasRelatedWork W2033466478 @default.
- W2779229275 hasRelatedWork W2064659330 @default.
- W2779229275 hasRelatedWork W2076852861 @default.
- W2779229275 hasRelatedWork W2126657738 @default.
- W2779229275 hasRelatedWork W2132369750 @default.
- W2779229275 hasRelatedWork W2136210864 @default.
- W2779229275 hasRelatedWork W2356352860 @default.
- W2779229275 hasRelatedWork W2754307820 @default.
- W2779229275 hasRelatedWork W2885967278 @default.
- W2779229275 hasRelatedWork W2895045749 @default.
- W2779229275 hasRelatedWork W3010798500 @default.
- W2779229275 hasRelatedWork W3042955439 @default.
- W2779229275 hasRelatedWork W3045450791 @default.
- W2779229275 hasRelatedWork W3168339754 @default.
- W2779229275 hasRelatedWork W3208698933 @default.
- W2779229275 hasRelatedWork W72218287 @default.
- W2779229275 isParatext "false" @default.
- W2779229275 isRetracted "false" @default.
- W2779229275 magId "2779229275" @default.
- W2779229275 workType "article" @default.