ArticleCanadian journal of gastroenterology & hepatology2021
Whole Exome Sequencing Identifies Two Novel Mutations in a Patient with UC Associated with PSC and SSA.
Article in Canadian journal of gastroenterology & hepatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 6 citations in OpenAlex.
- A multifaceted analysis of OTUD5 integrated MAVS in innate immunity of Primary Biliary Cholangitis.PloS one · 2026Article
- Review
- Undifferentiated pleomorphic sarcoma of the breast with neoplastic fever: case report and genomic characterization.Journal of cancer research and clinical oncology · 2023Article
- Article
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Authors and funding
6 authors at 1 institution in 1 country.
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Abstract
Background: Patients diagnosed with ulcerative colitis (UC) associated with primary sclerosis cholangitis (PSC) and sessile serrated adenoma (SSA) are rare. The present study aimed to identify the potential causative gene mutation in a patient with UC associated with PSC and SSA. Methods: DNA was extracted from the blood sample and tissue sample of SSA, followed by the whole exome sequencing (WES) analysis. Bioinformatics analysis was utilized to predict the deleteriousness of the identified variants. Multiple sequence alignment and conserved protein domain analyses were performed using online software. Sanger sequencing was used to validate the identified variants. Expression and diagnostic analysis of identified mutated genes was performed in the GSE119600 dataset (peripheral blood samples of Results: In the present study, a total of 842 single nucleotide variants (SNVs) in 728 genes were identified in the blood sample. Two variants, integrin beta 4 ( Conclusions: The present study demonstrated that the
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