FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2783241006> ?p ?o ?g. }

• W2783241006 endingPage "816" @default.
• W2783241006 startingPage "813" @default.
• W2783241006 abstract "Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series.We analysed 980 neuropathologically characterised human brains with Alzheimer's disease (AD), Parkinson's disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls. Genetic variants were assessed using the American College of Medical Genetics criteria for pathogenicity. Individuals with two or more variants within a relevant disease gene panel were defined as 'oligogenic'.The majority of oligogenic variant combinations consisted of a highly penetrant allele or known risk factor in combination with another rare but likely benign allele. The presence of oligogenic variants did not influence the age of onset or disease severity. After controlling for the single known major risk allele, the frequency of oligogenic variants was no different between cases and controls.A priori, individuals with AD, PD-DLB and FTD-ALS are more likely to harbour a known genetic risk factor, and it is the burden of these variants in combination with rare benign alleles that is likely to be responsible for some oligogenic associations. Controlling for this bias is essential in studies investigating a potential role for oligogenic variation in neurodegenerative diseases." @default.
• W2783241006 created "2018-01-26" @default.
• W2783241006 creator A5002436634 @default.
• W2783241006 creator A5010017708 @default.
• W2783241006 creator A5013583757 @default.
• W2783241006 creator A5020665730 @default.
• W2783241006 creator A5021607726 @default.
• W2783241006 creator A5021884506 @default.
• W2783241006 creator A5029095625 @default.
• W2783241006 creator A5032286909 @default.
• W2783241006 creator A5033471479 @default.
• W2783241006 creator A5045232979 @default.
• W2783241006 creator A5045339285 @default.
• W2783241006 creator A5054635855 @default.
• W2783241006 creator A5062488816 @default.
• W2783241006 creator A5077963659 @default.
• W2783241006 creator A5079660167 @default.
• W2783241006 creator A5082216087 @default.
• W2783241006 creator A5086206120 @default.
• W2783241006 date "2018-01-13" @default.
• W2783241006 modified "2023-10-16" @default.
• W2783241006 title "Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains" @default.
• W2783241006 cites W1497027037 @default.
• W2783241006 cites W1995675024 @default.
• W2783241006 cites W2051978340 @default.
• W2783241006 cites W2082295776 @default.
• W2783241006 cites W2109451293 @default.
• W2783241006 cites W2122047581 @default.
• W2783241006 cites W2124490243 @default.
• W2783241006 cites W2145187337 @default.
• W2783241006 cites W2193207784 @default.
• W2783241006 cites W2256016639 @default.
• W2783241006 cites W2423692428 @default.
• W2783241006 cites W2536907123 @default.
• W2783241006 cites W2559682960 @default.
• W2783241006 cites W2563716679 @default.
• W2783241006 cites W2723715376 @default.
• W2783241006 cites W2753850426 @default.
• W2783241006 doi "https://doi.org/10.1136/jnnp-2017-317234" @default.
• W2783241006 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6204946" @default.
• W2783241006 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29332010" @default.
• W2783241006 hasPublicationYear "2018" @default.
• W2783241006 type Work @default.
• W2783241006 sameAs 2783241006 @default.
• W2783241006 citedByCount "14" @default.
• W2783241006 countsByYear W27832410062018 @default.
• W2783241006 countsByYear W27832410062019 @default.
• W2783241006 countsByYear W27832410062020 @default.
• W2783241006 countsByYear W27832410062021 @default.
• W2783241006 countsByYear W27832410062022 @default.
• W2783241006 countsByYear W27832410062023 @default.
• W2783241006 crossrefType "journal-article" @default.
• W2783241006 hasAuthorship W2783241006A5002436634 @default.
• W2783241006 hasAuthorship W2783241006A5010017708 @default.
• W2783241006 hasAuthorship W2783241006A5013583757 @default.
• W2783241006 hasAuthorship W2783241006A5020665730 @default.
• W2783241006 hasAuthorship W2783241006A5021607726 @default.
• W2783241006 hasAuthorship W2783241006A5021884506 @default.
• W2783241006 hasAuthorship W2783241006A5029095625 @default.
• W2783241006 hasAuthorship W2783241006A5032286909 @default.
• W2783241006 hasAuthorship W2783241006A5033471479 @default.
• W2783241006 hasAuthorship W2783241006A5045232979 @default.
• W2783241006 hasAuthorship W2783241006A5045339285 @default.
• W2783241006 hasAuthorship W2783241006A5054635855 @default.
• W2783241006 hasAuthorship W2783241006A5062488816 @default.
• W2783241006 hasAuthorship W2783241006A5077963659 @default.
• W2783241006 hasAuthorship W2783241006A5079660167 @default.
• W2783241006 hasAuthorship W2783241006A5082216087 @default.
• W2783241006 hasAuthorship W2783241006A5086206120 @default.
• W2783241006 hasBestOaLocation W27832410061 @default.
• W2783241006 hasConcept C104317684 @default.
• W2783241006 hasConcept C142724271 @default.
• W2783241006 hasConcept C180754005 @default.
• W2783241006 hasConcept C2778548049 @default.
• W2783241006 hasConcept C2778641062 @default.
• W2783241006 hasConcept C2779134260 @default.
• W2783241006 hasConcept C2779483572 @default.
• W2783241006 hasConcept C2780596555 @default.
• W2783241006 hasConcept C54355233 @default.
• W2783241006 hasConcept C71924100 @default.
• W2783241006 hasConcept C86803240 @default.
• W2783241006 hasConceptScore W2783241006C104317684 @default.
• W2783241006 hasConceptScore W2783241006C142724271 @default.
• W2783241006 hasConceptScore W2783241006C180754005 @default.
• W2783241006 hasConceptScore W2783241006C2778548049 @default.
• W2783241006 hasConceptScore W2783241006C2778641062 @default.
• W2783241006 hasConceptScore W2783241006C2779134260 @default.
• W2783241006 hasConceptScore W2783241006C2779483572 @default.
• W2783241006 hasConceptScore W2783241006C2780596555 @default.
• W2783241006 hasConceptScore W2783241006C54355233 @default.
• W2783241006 hasConceptScore W2783241006C71924100 @default.
• W2783241006 hasConceptScore W2783241006C86803240 @default.
• W2783241006 hasFunder F4320307874 @default.
• W2783241006 hasFunder F4320334626 @default.
• W2783241006 hasIssue "8" @default.
• W2783241006 hasLocation W27832410061 @default.
• W2783241006 hasLocation W27832410062 @default.
• W2783241006 hasLocation W27832410063 @default.

• next