{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T17:44:26Z","timestamp":1783187066931,"version":"3.54.6"},"reference-count":25,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T00:00:00Z","timestamp":1734048000000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005089","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7232109"],"award-info":[{"award-number":["7232109"]}],"id":[{"id":"10.13039\/501100005089","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>PIGA<\/jats:italic> mutation cannot fully explain the proliferative advantage of abnormal clones and thrombosis tendency in paroxysmal nocturnal haemoglobinuria (PNH), and additional genes may play a role, justifying further investigation. CD59+ and CD59\u2010 peripheral blood mononuclear cells from six PNH patients were sorted and subjected to whole\u2010exon sequencing (WES) and whole\u2010transcriptome sequencing respectively. Six age\u2010 and sex\u2010matched healthy volunteers were enrolled as controls. Genes related to proliferation, immunity and thrombosis were selected by gene ontology (GO) analysis. The selected gene mutant alleles were then identified in the WES results for 40 patients and verified by the Sanger method in another 40 PNH patients. CD59+ and CD59\u2010 peripheral blood mononuclear cells from seven patients were sorted, and the RNA and protein expression levels of target genes were assessed via quantitative real\u2010time PCR (RT\u2010qPCR), flow cytometry and western blotting. The final selected genes were then related to clinical features to analyse. T\u2010cell activation\u2013related genes were upregulated, whereas platelet degranulation, coagulation, haemostasis, leukocyte proliferation and platelet activation\u2013related genes were downregulated in both CD59+ and CD59\u2010 cells. The mRNA or protein expression levels of SELP, FLT1, NRP1 and vWF were either different from those in healthy controls or different between CD59+ and CD59\u2010 cells. Moreover, platelet aggregation was greater in patients with mutations in these genes than in patients without such mutations. Except for <jats:italic>PIGA<\/jats:italic>, other genes may be involved in the proliferation and coagulopathy that occur in PNH patients.<\/jats:p>","DOI":"10.1111\/jcmm.70295","type":"journal-article","created":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T17:13:51Z","timestamp":1734110031000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identifying Genes Associated With Proliferation, Immunity and Thrombosis in Paroxysmal Nocturnal Haemoglobinuria"],"prefix":"10.1111","volume":"28","author":[{"given":"Yali","family":"Du","sequence":"first","affiliation":[{"name":"Department of Hematology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Wang","sequence":"additional","affiliation":[{"name":"Medical Zhongcheng Limited Company  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinglin","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Hematology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhizhen","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Biophysics and Structural Biology Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences &amp; 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