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http://hdl.handle.net/11452/32054
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DC Field | Value | Language |
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dc.date.accessioned | 2023-03-30T10:30:09Z | - |
dc.date.available | 2023-03-30T10:30:09Z | - |
dc.date.issued | 2017-03-16 | - |
dc.identifier.citation | Petersen, B. S. vd. (2017). ''Targeted gene panel sequencing for early-onset inflammatory bowel disease and chronic diarrhea''. Inflammatory Bowel Diseases, 23(12), 2109-2120. | en_US |
dc.identifier.issn | 1078-0998 | - |
dc.identifier.issn | 1536-4844 | - |
dc.identifier.uri | https://doi.org/10.1097/MIB.0000000000001235 | - |
dc.identifier.uri | https://academic.oup.com/ibdjournal/article/23/12/2109/4791702?login=true | - |
dc.identifier.uri | http://hdl.handle.net/11452/32054 | - |
dc.description | "Çalışmada 57 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır.” | tr_TR |
dc.description.abstract | Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients. Methods: We selected 28 genes of interest associated with monogenic IBD and performed targeted panel sequencing in 71 patients diagnosed with eoIBD or early-onset chronic diarrhea to detect causative variants. We compared these results to whole-exome sequencing (WES) data available for 25 of these patients. Results: Target coverage was significantly higher in the targeted gene panel approach compared with WES, whereas the cost of the panel was considerably lower (approximately 25% of WES). Disease-causing variants affecting protein function were identified in 5 patients (7%), located in genes of the IL10 signaling pathway (3), WAS (1), and DKC1 (1). The functional effects of 8 candidate variants in 5 additional patients (7%) are under further investigation. WES did not identify additional causative mutations in 25 patients. Conclusions: Targeted gene panel sequencing is a fast and effective screening method for monogenic causes of eoIBD that should be routinely established in national referral centers. | en_US |
dc.description.sponsorship | Federal Ministry of Education & Research (BMBF) - IFB/CCI: 01EO1303 - E:med/SysInflame: 012X1306F - DZIF: 8000805-3 | en_US |
dc.description.sponsorship | German Research Foundation (DFG) - FR 2821/6-1 | en_US |
dc.language.iso | en | en_US |
dc.publisher | Oxford University | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Gastroenterology & hepatology | en_US |
dc.subject | Early-onset IBD | en_US |
dc.subject | Infant colitis | en_US |
dc.subject | Chronic diarrhea | en_US |
dc.subject | Next-generation sequencing | en_US |
dc.subject | Genetic screening | en_US |
dc.subject | Imunodeficiency | en_US |
dc.subject | Wiskott-aldrich syndrome | en_US |
dc.subject | Dyskeratosis-congenita | en_US |
dc.subject | Human genome | en_US |
dc.subject | Mutations | en_US |
dc.subject | Variants | en_US |
dc.subject | Telomere | en_US |
dc.subject | Pathogenicity | en_US |
dc.subject | Prevalence | en_US |
dc.subject | Disorders | en_US |
dc.subject | Framework | en_US |
dc.subject.mesh | Age of onset | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Child, preschool | en_US |
dc.subject.mesh | Chronic disease | en_US |
dc.subject.mesh | Diarrhea | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Genetic predisposition to disease | en_US |
dc.subject.mesh | Genome-wide association study | en_US |
dc.subject.mesh | High-throughput nucleotide sequencing | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Infant | en_US |
dc.subject.mesh | Infant | en_US |
dc.subject.mesh | Newborn | en_US |
dc.subject.mesh | Inflammatory bowel diseases | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Mutation | en_US |
dc.subject.mesh | Whole exome sequencing | en_US |
dc.title | Targeted gene panel sequencing for early-onset inflammatory bowel disease and chronic diarrhea | en_US |
dc.type | Article | en_US |
dc.identifier.wos | 000419161300007 | tr_TR |
dc.identifier.scopus | 2-s2.0-85049885338 | tr_TR |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Pediatrik İmmünoloji Anabilim Dalı. | tr_TR |
dc.contributor.orcid | 0000-0001-8571-2581 | tr_TR |
dc.identifier.startpage | 2109 | tr_TR |
dc.identifier.endpage | 2120 | tr_TR |
dc.identifier.volume | 23 | tr_TR |
dc.identifier.issue | 12 | tr_TR |
dc.relation.journal | Inflammatory Bowel Diseases | en_US |
dc.contributor.buuauthor | Kılıç, Sara Şebnem | - |
dc.contributor.researcherid | AAH-1658-2021 | tr_TR |
dc.relation.collaboration | Yurt içi | tr_TR |
dc.relation.collaboration | Yurt dışı | tr_TR |
dc.relation.collaboration | Sanayi | tr_TR |
dc.identifier.pubmed | 28930861 | tr_TR |
dc.subject.wos | Gastroenterology & hepatology | en_US |
dc.indexed.wos | SCIE | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.pubmed | PubMed | en_US |
dc.wos.quartile | Q1 | en_US |
dc.contributor.scopusid | 34975059200 | tr_TR |
dc.subject.scopus | Interleukin-10 Receptors; Inflammatory Bowel Diseases; Immunosuppression | en_US |
dc.subject.emtree | Child | en_US |
dc.subject.emtree | Chronic disease | en_US |
dc.subject.emtree | Diarrhea | en_US |
dc.subject.emtree | Female | en_US |
dc.subject.emtree | Genetic predisposition | en_US |
dc.subject.emtree | Genetics | en_US |
dc.subject.emtree | Genome-wide association study | en_US |
dc.subject.emtree | High throughput sequencing | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Infant | en_US |
dc.subject.emtree | Inflammatory bowel disease | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Mutation | en_US |
dc.subject.emtree | Newborn | en_US |
dc.subject.emtree | Onset age | en_US |
dc.subject.emtree | Preschool child | en_US |
dc.subject.emtree | Whole exome sequencing | en_US |
Appears in Collections: | Scopus Web of Science |
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