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

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dc.contributor.authorGünay Ç.
dc.contributor.authorAykol D.
dc.contributor.authorÖzsoy Ö.
dc.contributor.authorSönmezler E.
dc.contributor.authorHanci Y.S.
dc.contributor.authorKara B.
dc.contributor.authorAkkoyunlu Sünnetçi D.
dc.contributor.authorCine N.
dc.contributor.authorDeniz A.
dc.contributor.authorÖzer T.
dc.contributor.authorÖlçülü C.B.
dc.contributor.authorYilmaz Ö.
dc.contributor.authorKanmaz S.
dc.contributor.authorYilmaz S.
dc.contributor.authorTekgül H.
dc.contributor.authorYildiz N.
dc.contributor.authorAcar Arslan E.
dc.contributor.authorCansu A.
dc.contributor.authorOlgaç Dündar N.
dc.contributor.authorKusgoz F.
dc.contributor.authorDidinmez E.
dc.contributor.authorGençpinar P.
dc.contributor.authorAksu Uzunhan T.
dc.contributor.authorErtürk B.
dc.contributor.authorGezdirici A.
dc.contributor.authorAyaz A.
dc.contributor.authorÖlmez A.
dc.contributor.authorAyanoǧlu M.
dc.contributor.authorTosun A.
dc.contributor.authorTopçu Y.
dc.contributor.authorKiliç B.
dc.contributor.authorAydin K.
dc.contributor.authorÇaǧlar E.
dc.contributor.authorErsoy Kosvali Ö.
dc.contributor.authorOkuyaz Ç.
dc.contributor.authorBesen Ş.
dc.contributor.authorTekin Orgun L.
dc.contributor.authorErol İ.
dc.contributor.authorYüksel D.
dc.contributor.authorSezer A.
dc.contributor.authorAtasoy E.
dc.contributor.authorToprak Ü.
dc.contributor.authorGüngör S.
dc.contributor.authorOzgor B.
dc.contributor.authorKaradaǧ M.
dc.contributor.authorDilber C.
dc.contributor.authorŞahinoǧlu B.
dc.contributor.authorUyur Yalçin E.
dc.contributor.authorEldes Hacifazlioglu N.
dc.contributor.authorYaramiś A.
dc.contributor.authorEdem P.
dc.contributor.authorGezici Tekin H.
dc.contributor.authorYilmaz Ü.
dc.contributor.authorÜnalp A.
dc.contributor.authorTuray S.
dc.contributor.authorBiçer D.
dc.contributor.authorGül Mert G.
dc.contributor.authorDokurel Çetin İ.
dc.contributor.authorKirik S.
dc.contributor.authorÖztürk G.
dc.contributor.authorKaral Y.
dc.contributor.authorSanri A.
dc.contributor.authorAksoy A.
dc.contributor.authorPolat M.
dc.contributor.authorÖzgün N.
dc.contributor.authorSoydemir D.
dc.contributor.authorSarikaya Uzan G.
dc.contributor.authorÜlker Üstebay D.
dc.contributor.authorGök A.
dc.contributor.authorYeśilmen M.C.
dc.contributor.authorYiś U.
dc.contributor.authorKarakülah G.
dc.contributor.authorBursali A.
dc.contributor.authorOktay Y.
dc.contributor.authorHiz Kurul S.
dc.date.accessioned2024-07-22T08:03:42Z
dc.date.available2024-07-22T08:03:42Z
dc.date.issued2022
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. Methods  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. © 2022 Hippokrates Verlag GmbH. All rights reserved.
dc.identifier.DOI-ID10.1055/a-2034-8528
dc.identifier.issn0174304X
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/12397
dc.language.isoEnglish
dc.publisherGeorg Thieme Verlag
dc.subjectGenetic Testing
dc.subjectHumans
dc.subjectIntellectual Disability
dc.subjectIon Channels
dc.subjectLysine
dc.subjectTobacco Use Disorder
dc.subjection channel
dc.subjectlysine
dc.subjection channel
dc.subjectlysine
dc.subjectamino acid metabolism
dc.subjectArticle
dc.subjectcell composition
dc.subjectcell function
dc.subjectchild
dc.subjectchromosome deletion
dc.subjectchromosome duplication
dc.subjectclinical feature
dc.subjectcohort analysis
dc.subjectdemographics
dc.subjectdisease ontology
dc.subjectfemale
dc.subjectgene ontology
dc.subjectgene set enrichment analysis
dc.subjectgenetic analysis
dc.subjectgenetic association
dc.subjecthuman
dc.subjectinfant
dc.subjectintellectual impairment
dc.subjectKEGG
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmembrane potential
dc.subjectmental disease
dc.subjectnewborn
dc.subjectpathway analysis
dc.subjectregulatory mechanism
dc.subjectretrospective study
dc.subjecttobacco dependence
dc.subjectTurkey (republic)
dc.subjectclinical trial
dc.subjectgenetic screening
dc.subjectgenetics
dc.subjectintellectual impairment
dc.subjectmulticenter study
dc.subjecttobacco dependence
dc.titleShared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
dc.typeArticle

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