Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

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dc.authoridDundar, Nihal Olgac/0000-0002-5902-3501
dc.authoridKirik, SERKAN/0000-0002-8658-2448
dc.authoridEldes, Nilufer/0000-0001-8828-8587
dc.authoridçine, Naci/0000-0001-9063-1073
dc.authoridSARIKAYA UZAN, Gamze/0000-0002-5028-9995
dc.authoridDokurel Çetin, İpek/0000-0002-1820-8980
dc.authoridTekin, Hande Gazeteci/0000-0002-4407-164X
dc.authorwosidDundar, Nihal Olgac/AAF-9861-2021
dc.authorwosidKirik, SERKAN/ADX-1582-2022
dc.authorwosidEldes, Nilufer/ABN-9554-2022
dc.authorwosidçine, Naci/M-5957-2019
dc.authorwosidSARIKAYA UZAN, Gamze/JAX-6765-2023
dc.authorwosidDokurel Çetin, İpek/KVB-4100-2024
dc.authorwosidKIRIK, SERKAN/W-3856-2017
dc.contributor.authorGunay, Cagatay
dc.contributor.authorAykol, Duygu
dc.contributor.authorOzsoy, Ozlem
dc.contributor.authorSonmezler, Ece
dc.contributor.authorHanci, Yaren Sena
dc.contributor.authorKara, Bulent
dc.contributor.authorSunnetci, Deniz Akkoyunlu
dc.date.accessioned2024-08-04T20:53:43Z
dc.date.available2024-08-04T20:53:43Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Method In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage- gated ion channel activity/voltage-gated channel activity, respectively. Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.en_US
dc.identifier.doi10.1055/a-2034-8528
dc.identifier.endpage238en_US
dc.identifier.issn0174-304X
dc.identifier.issn1439-1899
dc.identifier.issue4en_US
dc.identifier.pmid36787800en_US
dc.identifier.scopus2-s2.0-85159693274en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage225en_US
dc.identifier.urihttps://doi.org/10.1055/a-2034-8528
dc.identifier.urihttps://hdl.handle.net/11616/101360
dc.identifier.volume54en_US
dc.identifier.wosWOS:000957331200002en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGeorg Thieme Verlag Kgen_US
dc.relation.ispartofNeuropediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectneurodevelopmental disorderen_US
dc.subjectintellectual disabilityen_US
dc.subjectpathway analysisen_US
dc.subjectenrichment analysisen_US
dc.subjectKEGGen_US
dc.subjectontologyen_US
dc.titleShared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Studyen_US
dc.typeArticleen_US

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