https://m2.mtmt.hu/ eng 2026-05-30 23:49 JournalArticle 35166710 VALIDATED true 0 false 2026-05-24T01:54:29.686+0000 2024-08-23T09:32:05.978+0000 2024-08-12T07:27:51.902+0000 true 10020321 Kereszturi Éva /api/author/10020321 Author Éva Kereszturi (Biokémia) true 10020321 2025-07-17T11:08:03.399+0000 2024-08-23T09:32:05.988+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin Márta Molnár-Taga (SE 4-es admin) true 10062250 true false true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Article (Journal Article) 101 true 10000059 true 1 /api/category/1 Category Scientific true 1 Kereszturi, Éva true true /api/journal/10028429 REVIEWED MOLECULAR BRAIN 1756-6606 1756-6606 true false 10028429 false 10028429 true 1756-6606 1756-6606 Journal FOREIGN 17 1 55 55 9 2024 Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social and communication difficulties, along with repetitive behaviors. While genetic factors play a significant role in ASD, the precise genetic landscape remains complex and not fully understood, particularly in non-syndromic cases. The study performed an in silico comparison of three genetic databases. ClinVar, SFARI Gene, and AutDB were utilized to identify relevant gene subset and genetic variations associated with non-syndromic ASD. Gene set enrichment analysis (GSEA) and protein–protein interaction (PPI) network analysis were conducted to elucidate the biological significance of the identified genes. The integrity of ASD-related gene subset and the distribution of their variations were statistically assessed. A subset of twenty overlapping genes potentially specific for non-syndromic ASD was identified. GSEA revealed enrichment of biological processes related to neuronal development and differentiation, synaptic function, and social skills, highlighting their importance in ASD pathogenesis. PPI network analysis demonstrated functional relationships among the identified genes. Analysis of genetic variations showed predominance of rare variants and database-specific distribution patterns. The results provide valuable insights into the genetic landscape of ASD and outline the genes and biological processes involved in the condition, while taking into account that the study relied exclusively on in silico analyses, which may be subject to biases inherent to database methodologies. Further research incorporating multi-omics data and experimental validation is warranted to enhance our understanding of non-syndromic ASD genetics and facilitate the development of targeted research, interventions and therapies. 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(2024) MOLECULAR BRAIN 1756-6606 1756-6606 17 1<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10020321"><a href="/gui2/?type=authors&mode=browse&sel=10020321" target="_blank">Kereszturi Éva ✉ (<span class="authorship-author-name">Kereszturi Éva</span> <span class="authorAux-mtmt"> Biokémia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/<span title="Biokémiai és Molekuláris Biológiai Intézet">BMBI</span>/Molekuláris Biológiai Tanszék</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;35166710" target="_blank">Database-assisted screening of autism spectrum disorder related gene set</a></div> <div> <span class="journal-title">MOLECULAR BRAIN</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1756-6606">1756-6606</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1756-6606">1756-6606</a>)</span>: <span class="journal-volume">17</span> <span class="journal-issue">1</span> <span class="page"> Paper 55. 9 p. </span> <span class="year">(2024)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1186/s13041-024-01127-0" target="_blank" href="https://doi.org/10.1186/s13041-024-01127-0"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001287625400001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001287625400001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85200844413" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85200844413"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="39123267" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39123267&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Cellular and Molecular Neuroscience&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> <div class="journal-subject">Journal subject: Scopus - Molecular Biology&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q2</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 4</span> | Independent citation: 4 | Self citation: 0 | Unknown citation: 0 | Number of citations in WoS: 3 | Number of citations in Scopus:&nbsp;3 | WoS/Scopus assigned:&nbsp;4 | Number of citations with DOI:&nbsp;4 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;35166710&sort=publishedYear,desc&sort=title"> Number of cited publications: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 35166710</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (Open access funding provided by Semmelweis University) </div> <div class="lastModified">Last Modified: 2024.08.23. 11:32 Márta Molnár-Taga (SE 4-es admin) </div> </div></div>