FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3036924723> ?p ?o ?g. }

• W3036924723 endingPage "69" @default.
• W3036924723 startingPage "64" @default.
• W3036924723 abstract "Introduction Genetic variants in the glucocerebrosidase (GBA) gene have been previously associated with susceptibility to synucleinopathies. The risk is well-established in Lewy body disease but is not as confirmed for multiple system atrophy (MSA). We aim to evaluate associations between exonic variants in GBA and risk of neuropathologically-confirmed multiple system atrophy (MSA). Methods Sanger gene sequencing of GBA was performed on 167 pathologically confirmed MSA patients collected at Mayo Clinic Florida Brain Bank, and data were extracted from whole-genome sequencing of 834 clinical controls. Common GBA variants were assessed for association with MSA. Rare GBA variants (and also all GBA variants) were collapsed together and evaluated for association with MSA risk using a gene-burden test. Results A total of 17 exonic GBA variants were observed, including a novel p.Q112X variant that is likely pathogenic in a patient with mixed parkinsonism-cerebellar subtype MSA. The more common p.N409S and p.L483P variants that recessively cause Gaucher's disease (GD), and are associated with risk of Lewy body disease, were not observed. When collapsing across all GBA variants, the presence of any GBA variant was significantly more frequent in MSA patients than in controls (OR = 1.90, P = 0.031). However, this association was driven by p.T408M, which had a significantly higher frequency in MSA patients compared to controls (OR = 4.21, P = 0.002). There was no significant association with risk of MSA for the p.E365K variant (OR = 0.79, P = 0.72). Conclusions Other than the specific GBA p.T408M variant, coding GBA variants are not associated with risk of MSA." @default.
• W3036924723 created "2020-06-25" @default.
• W3036924723 creator A5009044500 @default.
• W3036924723 creator A5009285685 @default.
• W3036924723 creator A5009533777 @default.
• W3036924723 creator A5009821300 @default.
• W3036924723 creator A5022481370 @default.
• W3036924723 creator A5031027678 @default.
• W3036924723 creator A5048408999 @default.
• W3036924723 creator A5066839058 @default.
• W3036924723 creator A5072399768 @default.
• W3036924723 creator A5073233893 @default.
• W3036924723 creator A5074141991 @default.
• W3036924723 creator A5074593768 @default.
• W3036924723 creator A5089452258 @default.
• W3036924723 date "2020-08-01" @default.
• W3036924723 modified "2023-10-16" @default.
• W3036924723 title "GBA variation and susceptibility to multiple system atrophy" @default.
• W3036924723 cites W1571449885 @default.
• W3036924723 cites W1855414224 @default.
• W3036924723 cites W1873640461 @default.
• W3036924723 cites W1885594328 @default.
• W3036924723 cites W1893506747 @default.
• W3036924723 cites W1914859108 @default.
• W3036924723 cites W1969040413 @default.
• W3036924723 cites W2011977459 @default.
• W3036924723 cites W2038233263 @default.
• W3036924723 cites W2055487675 @default.
• W3036924723 cites W2058148991 @default.
• W3036924723 cites W2092415832 @default.
• W3036924723 cites W2118719937 @default.
• W3036924723 cites W2122918906 @default.
• W3036924723 cites W2137300912 @default.
• W3036924723 cites W2142755066 @default.
• W3036924723 cites W2143547926 @default.
• W3036924723 cites W2144436250 @default.
• W3036924723 cites W2159354524 @default.
• W3036924723 cites W2170281382 @default.
• W3036924723 cites W2271320393 @default.
• W3036924723 cites W2338776562 @default.
• W3036924723 cites W2520992663 @default.
• W3036924723 cites W2586458775 @default.
• W3036924723 cites W2746034036 @default.
• W3036924723 cites W2753262270 @default.
• W3036924723 doi "https://doi.org/10.1016/j.parkreldis.2020.06.007" @default.
• W3036924723 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32623306" @default.
• W3036924723 hasPublicationYear "2020" @default.
• W3036924723 type Work @default.
• W3036924723 sameAs 3036924723 @default.
• W3036924723 citedByCount "12" @default.
• W3036924723 countsByYear W30369247232021 @default.
• W3036924723 countsByYear W30369247232022 @default.
• W3036924723 countsByYear W30369247232023 @default.
• W3036924723 crossrefType "journal-article" @default.
• W3036924723 hasAuthorship W3036924723A5009044500 @default.
• W3036924723 hasAuthorship W3036924723A5009285685 @default.
• W3036924723 hasAuthorship W3036924723A5009533777 @default.
• W3036924723 hasAuthorship W3036924723A5009821300 @default.
• W3036924723 hasAuthorship W3036924723A5022481370 @default.
• W3036924723 hasAuthorship W3036924723A5031027678 @default.
• W3036924723 hasAuthorship W3036924723A5048408999 @default.
• W3036924723 hasAuthorship W3036924723A5066839058 @default.
• W3036924723 hasAuthorship W3036924723A5072399768 @default.
• W3036924723 hasAuthorship W3036924723A5073233893 @default.
• W3036924723 hasAuthorship W3036924723A5074141991 @default.
• W3036924723 hasAuthorship W3036924723A5074593768 @default.
• W3036924723 hasAuthorship W3036924723A5089452258 @default.
• W3036924723 hasBestOaLocation W30369247231 @default.
• W3036924723 hasConcept C104317684 @default.
• W3036924723 hasConcept C126322002 @default.
• W3036924723 hasConcept C135763542 @default.
• W3036924723 hasConcept C142724271 @default.
• W3036924723 hasConcept C153209595 @default.
• W3036924723 hasConcept C186413461 @default.
• W3036924723 hasConcept C2776525014 @default.
• W3036924723 hasConcept C2779097696 @default.
• W3036924723 hasConcept C2779134260 @default.
• W3036924723 hasConcept C2779734285 @default.
• W3036924723 hasConcept C2780674200 @default.
• W3036924723 hasConcept C2781172350 @default.
• W3036924723 hasConcept C501734568 @default.
• W3036924723 hasConcept C54355233 @default.
• W3036924723 hasConcept C71924100 @default.
• W3036924723 hasConcept C76818968 @default.
• W3036924723 hasConcept C86803240 @default.
• W3036924723 hasConceptScore W3036924723C104317684 @default.
• W3036924723 hasConceptScore W3036924723C126322002 @default.
• W3036924723 hasConceptScore W3036924723C135763542 @default.
• W3036924723 hasConceptScore W3036924723C142724271 @default.
• W3036924723 hasConceptScore W3036924723C153209595 @default.
• W3036924723 hasConceptScore W3036924723C186413461 @default.
• W3036924723 hasConceptScore W3036924723C2776525014 @default.
• W3036924723 hasConceptScore W3036924723C2779097696 @default.
• W3036924723 hasConceptScore W3036924723C2779134260 @default.
• W3036924723 hasConceptScore W3036924723C2779734285 @default.
• W3036924723 hasConceptScore W3036924723C2780674200 @default.
• W3036924723 hasConceptScore W3036924723C2781172350 @default.
• W3036924723 hasConceptScore W3036924723C501734568 @default.

• next