FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3028442883> ?p ?o ?g. }

• W3028442883 endingPage "1348" @default.
• W3028442883 startingPage "1342" @default.
• W3028442883 abstract "Objective Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. We sought to investigate the relationship between rare variants in TRIM63 and the development of HCM. Methods TRIM63 was sequenced by next generation sequencing in 4867 index cases with a clinical diagnosis of HCM and in 3628 probands with other cardiomyopathies. Additionally, 3136 index cases with familial cardiovascular diseases other than cardiomyopathy (mainly channelopathies and aortic diseases) were used as controls. Results Sixteen index cases with rare homozygous or compound heterozygous variants in TRIM63 (15 HCM and one restrictive cardiomyopathy) were included. No homozygous or compound heterozygous were identified in the control population. Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy. The mean age at diagnosis was 35 years (range 15–69). Fifty per cent of patients had concentric left ventricular hypertrophy (LVH) and 45% were asymptomatic at the moment of the first examination. Significant degrees of late gadolinium enhancement were detected in 80% of affected individuals, and 20% of patients had left ventricular (LV) systolic dysfunction. Fifty per cent had non-sustained ventricular tachycardia. Twenty per cent of patients suffered an adverse cerebrovascular event (20%). Conclusion TRIM63 appears to be an uncommon cause of HCM inherited in an autosomal-recessive manner and associated with concentric LVH and a high rate of LV dysfunction." @default.
• W3028442883 created "2020-05-29" @default.
• W3028442883 creator A5005814223 @default.
• W3028442883 creator A5006211041 @default.
• W3028442883 creator A5006640305 @default.
• W3028442883 creator A5010464223 @default.
• W3028442883 creator A5013496858 @default.
• W3028442883 creator A5016745087 @default.
• W3028442883 creator A5019408422 @default.
• W3028442883 creator A5025102434 @default.
• W3028442883 creator A5029629899 @default.
• W3028442883 creator A5040524509 @default.
• W3028442883 creator A5041125477 @default.
• W3028442883 creator A5042107039 @default.
• W3028442883 creator A5042292805 @default.
• W3028442883 creator A5044735396 @default.
• W3028442883 creator A5046069984 @default.
• W3028442883 creator A5047800254 @default.
• W3028442883 creator A5051764255 @default.
• W3028442883 creator A5053239662 @default.
• W3028442883 creator A5054559731 @default.
• W3028442883 creator A5062816598 @default.
• W3028442883 creator A5064334370 @default.
• W3028442883 creator A5065789373 @default.
• W3028442883 creator A5068613959 @default.
• W3028442883 creator A5070054427 @default.
• W3028442883 creator A5072296233 @default.
• W3028442883 creator A5073075323 @default.
• W3028442883 creator A5078030000 @default.
• W3028442883 creator A5078389491 @default.
• W3028442883 creator A5083141003 @default.
• W3028442883 creator A5083692065 @default.
• W3028442883 creator A5086962393 @default.
• W3028442883 date "2020-05-25" @default.
• W3028442883 modified "2023-10-18" @default.
• W3028442883 title "Mutations in <i>TRIM63</i> cause an autosomal-recessive form of hypertrophic cardiomyopathy" @default.
• W3028442883 cites W1021793475 @default.
• W3028442883 cites W1565187328 @default.
• W3028442883 cites W1962950334 @default.
• W3028442883 cites W1993235298 @default.
• W3028442883 cites W2001330437 @default.
• W3028442883 cites W2014608788 @default.
• W3028442883 cites W2029994451 @default.
• W3028442883 cites W2051978340 @default.
• W3028442883 cites W2088895400 @default.
• W3028442883 cites W2097618980 @default.
• W3028442883 cites W2101877908 @default.
• W3028442883 cites W2103384185 @default.
• W3028442883 cites W2105094177 @default.
• W3028442883 cites W2111813732 @default.
• W3028442883 cites W2116756051 @default.
• W3028442883 cites W2127423627 @default.
• W3028442883 cites W2145115337 @default.
• W3028442883 cites W2145651104 @default.
• W3028442883 cites W2162506787 @default.
• W3028442883 cites W2166070829 @default.
• W3028442883 cites W2171905803 @default.
• W3028442883 cites W2579055326 @default.
• W3028442883 cites W2608817389 @default.
• W3028442883 cites W2626424052 @default.
• W3028442883 cites W2887210220 @default.
• W3028442883 cites W2898389839 @default.
• W3028442883 doi "https://doi.org/10.1136/heartjnl-2020-316913" @default.
• W3028442883 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7476281" @default.
• W3028442883 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32451364" @default.
• W3028442883 hasPublicationYear "2020" @default.
• W3028442883 type Work @default.
• W3028442883 sameAs 3028442883 @default.
• W3028442883 citedByCount "25" @default.
• W3028442883 countsByYear W30284428832020 @default.
• W3028442883 countsByYear W30284428832021 @default.
• W3028442883 countsByYear W30284428832022 @default.
• W3028442883 countsByYear W30284428832023 @default.
• W3028442883 crossrefType "journal-article" @default.
• W3028442883 hasAuthorship W3028442883A5005814223 @default.
• W3028442883 hasAuthorship W3028442883A5006211041 @default.
• W3028442883 hasAuthorship W3028442883A5006640305 @default.
• W3028442883 hasAuthorship W3028442883A5010464223 @default.
• W3028442883 hasAuthorship W3028442883A5013496858 @default.
• W3028442883 hasAuthorship W3028442883A5016745087 @default.
• W3028442883 hasAuthorship W3028442883A5019408422 @default.
• W3028442883 hasAuthorship W3028442883A5025102434 @default.
• W3028442883 hasAuthorship W3028442883A5029629899 @default.
• W3028442883 hasAuthorship W3028442883A5040524509 @default.
• W3028442883 hasAuthorship W3028442883A5041125477 @default.
• W3028442883 hasAuthorship W3028442883A5042107039 @default.
• W3028442883 hasAuthorship W3028442883A5042292805 @default.
• W3028442883 hasAuthorship W3028442883A5044735396 @default.
• W3028442883 hasAuthorship W3028442883A5046069984 @default.
• W3028442883 hasAuthorship W3028442883A5047800254 @default.
• W3028442883 hasAuthorship W3028442883A5051764255 @default.
• W3028442883 hasAuthorship W3028442883A5053239662 @default.
• W3028442883 hasAuthorship W3028442883A5054559731 @default.
• W3028442883 hasAuthorship W3028442883A5062816598 @default.
• W3028442883 hasAuthorship W3028442883A5064334370 @default.
• W3028442883 hasAuthorship W3028442883A5065789373 @default.
• W3028442883 hasAuthorship W3028442883A5068613959 @default.
• W3028442883 hasAuthorship W3028442883A5070054427 @default.

• next