FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3043133099> ?p ?o ?g. }

• W3043133099 abstract "Introduction: Impulse control disorders (ICDs) frequently complicate dopamine agonist (DA) therapy in Parkinson’s disease (PD). There are growing evidence of a high heritability for ICDs in the general population and in PD. Variants on genes belonging to the reward pathway have been shown to account for part of this heritability. We aimed to identify new pathways associated with ICDs in PD. Methods: Thirty-six parkinsonian patients on DA therapy with (n=18) and without ICDs (n=18) matched on age at PD’s onset and gender were selected to represent the most extreme phenotypes of their category. Exome sequencing was performed and variants with a strong functional impact in brain-expressed genes were selected. Allele frequencies and their distribution in genes and pathways were analyzed with single variant and SKAT-O tests. The 10 most associated variants, genes and pathways were retained for replication in the Parkinson’s Progression Markers Initiative (PPMI) cohort. Results: None of markers tested passed the significance threshold adjusted for multiple comparisons. However, the “Adenylate cyclase activating” pathway, one of the top associated pathway in the discovery dataset (p=1.6×10-3) was replicated in the PPMI cohort, and was significantly associated with ICDs in a post-hoc pooled analysis (combined p-value 3.3×10-5). Two of the ten most associated variants belonged to genes implicated in cAMP and ERK signaling (rs34193571 in RasGRF2, p=5×10-4; rs1877652 in PDE2A, p=8×10-4) although non-significant after Bonferroni correction. Conclusion: Our results suggest that genes implicated in the signaling pathways linked to G protein-coupled receptors participate to genetic susceptibility to ICDs in PD. These results are in accordance with the importance of ERK and cAMP signaling pathways in the dopamine-dependent plasticity in the striatum." @default.
• W3043133099 created "2020-07-23" @default.
• W3043133099 creator A5002046329 @default.
• W3043133099 creator A5023248832 @default.
• W3043133099 creator A5028106298 @default.
• W3043133099 creator A5028919145 @default.
• W3043133099 creator A5036706411 @default.
• W3043133099 creator A5037512845 @default.
• W3043133099 creator A5040667065 @default.
• W3043133099 creator A5041759499 @default.
• W3043133099 creator A5043707589 @default.
• W3043133099 creator A5051690404 @default.
• W3043133099 creator A5059954950 @default.
• W3043133099 creator A5060581186 @default.
• W3043133099 creator A5071297381 @default.
• W3043133099 creator A5072972205 @default.
• W3043133099 creator A5078390423 @default.
• W3043133099 creator A5086259965 @default.
• W3043133099 creator A5087613307 @default.
• W3043133099 date "2020-07-21" @default.
• W3043133099 modified "2023-10-16" @default.
• W3043133099 title "Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease" @default.
• W3043133099 cites W1846887479 @default.
• W3043133099 cites W1911782737 @default.
• W3043133099 cites W1917554980 @default.
• W3043133099 cites W1965033221 @default.
• W3043133099 cites W1969874126 @default.
• W3043133099 cites W1971977144 @default.
• W3043133099 cites W1973092961 @default.
• W3043133099 cites W1984340563 @default.
• W3043133099 cites W1986602207 @default.
• W3043133099 cites W1989277387 @default.
• W3043133099 cites W1991054433 @default.
• W3043133099 cites W2002212507 @default.
• W3043133099 cites W2003792306 @default.
• W3043133099 cites W2008560062 @default.
• W3043133099 cites W2010494757 @default.
• W3043133099 cites W2022963815 @default.
• W3043133099 cites W2033092161 @default.
• W3043133099 cites W2033739693 @default.
• W3043133099 cites W2035883626 @default.
• W3043133099 cites W2058077554 @default.
• W3043133099 cites W2063262557 @default.
• W3043133099 cites W2063576205 @default.
• W3043133099 cites W2063655230 @default.
• W3043133099 cites W2089085990 @default.
• W3043133099 cites W2095679930 @default.
• W3043133099 cites W2098445519 @default.
• W3043133099 cites W2109104260 @default.
• W3043133099 cites W2112604819 @default.
• W3043133099 cites W2113534011 @default.
• W3043133099 cites W2139140411 @default.
• W3043133099 cites W2150659541 @default.
• W3043133099 cites W2153176667 @default.
• W3043133099 cites W2156953103 @default.
• W3043133099 cites W2159891593 @default.
• W3043133099 cites W2160995259 @default.
• W3043133099 cites W2234969141 @default.
• W3043133099 cites W2337617295 @default.
• W3043133099 cites W2405219120 @default.
• W3043133099 cites W2424977220 @default.
• W3043133099 cites W2444534019 @default.
• W3043133099 cites W2513924437 @default.
• W3043133099 cites W2610879265 @default.
• W3043133099 cites W2809792000 @default.
• W3043133099 cites W2901903538 @default.
• W3043133099 cites W2916943068 @default.
• W3043133099 cites W4237335579 @default.
• W3043133099 doi "https://doi.org/10.3389/fneur.2020.00641" @default.
• W3043133099 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7385236" @default.
• W3043133099 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32793093" @default.
• W3043133099 hasPublicationYear "2020" @default.
• W3043133099 type Work @default.
• W3043133099 sameAs 3043133099 @default.
• W3043133099 citedByCount "3" @default.
• W3043133099 countsByYear W30431330992021 @default.
• W3043133099 crossrefType "journal-article" @default.
• W3043133099 hasAuthorship W3043133099A5002046329 @default.
• W3043133099 hasAuthorship W3043133099A5023248832 @default.
• W3043133099 hasAuthorship W3043133099A5028106298 @default.
• W3043133099 hasAuthorship W3043133099A5028919145 @default.
• W3043133099 hasAuthorship W3043133099A5036706411 @default.
• W3043133099 hasAuthorship W3043133099A5037512845 @default.
• W3043133099 hasAuthorship W3043133099A5040667065 @default.
• W3043133099 hasAuthorship W3043133099A5041759499 @default.
• W3043133099 hasAuthorship W3043133099A5043707589 @default.
• W3043133099 hasAuthorship W3043133099A5051690404 @default.
• W3043133099 hasAuthorship W3043133099A5059954950 @default.
• W3043133099 hasAuthorship W3043133099A5060581186 @default.
• W3043133099 hasAuthorship W3043133099A5071297381 @default.
• W3043133099 hasAuthorship W3043133099A5072972205 @default.
• W3043133099 hasAuthorship W3043133099A5078390423 @default.
• W3043133099 hasAuthorship W3043133099A5086259965 @default.
• W3043133099 hasAuthorship W3043133099A5087613307 @default.
• W3043133099 hasBestOaLocation W30431330991 @default.
• W3043133099 hasConcept C104317684 @default.
• W3043133099 hasConcept C10590036 @default.
• W3043133099 hasConcept C126322002 @default.
• W3043133099 hasConcept C127716648 @default.
• W3043133099 hasConcept C16671776 @default.

• next