{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T21:31:34Z","timestamp":1772227894445,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100019974","name":"Nanning Science and Technology Bureau","doi-asserted-by":"publisher","award":["20173117"],"award-info":[{"award-number":["20173117"]}],"id":[{"id":"10.13039\/501100019974","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012547","name":"Natural Science Foundation of Guangxi Zhuang Autonomous Region","doi-asserted-by":"publisher","award":["2016GXNSFAA380143"],"award-info":[{"award-number":["2016GXNSFAA380143"]}],"id":[{"id":"10.13039\/100012547","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012547","name":"Natural Science Foundation of Guangxi Zhuang Autonomous Region","doi-asserted-by":"publisher","award":["2023GXNSFAA026300"],"award-info":[{"award-number":["2023GXNSFAA026300"]}],"id":[{"id":"10.13039\/100012547","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vox Sanguinis"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Objectives<\/jats:title><jats:p><jats:italic>CD36<\/jats:italic> encodes glycoprotein CD36, with variants causing reduced or absent protein expression. A <jats:italic>CD36<\/jats:italic> variant leading to platelet CD36 deficiency was identified in a Chinese male blood donor, and its molecular basis and population distribution were studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Exons 3\u201314 of the <jats:italic>CD36<\/jats:italic> gene from the identified variant were analysed using Sanger sequencing. <jats:italic>CD36<\/jats:italic> complementary DNA (cDNA) was cloned and sequenced, and a eukaryotic cell line expressing the variant <jats:italic>CD36<\/jats:italic> cDNA transcript was established to assess its protein expression using Western blotting (WB) and flow cytometry (FCM). A genotyping assay was developed and used to type 600 random individuals from Guangxi, China, for the variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Molecular analysis identified that the subject carries a heterozygous <jats:italic>CD36<\/jats:italic> variant, c.1328_1331dup; p.Glu445Aspfs*65, and expressed both the variant (c.1328_1331dup) and wild\u2010type <jats:italic>CD36<\/jats:italic> messenger RNA (mRNA) transcripts. WB and FCM confirmed that the eukaryotic cell line expressing the <jats:italic>CD36<\/jats:italic> c.1328_1331dup variant failed to produce the CD36 protein. The incidence of the <jats:italic>CD36<\/jats:italic> variant in Guangxi was 0.33% with an allele frequency of 0.001667.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study identified a <jats:italic>CD36<\/jats:italic> variant, c.1328_1331dup; p.Glu445Aspfs*65, responsible for platelet CD36 deficiency, which is present in 0.33% of the Guangxi population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vox.70034","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T23:04:40Z","timestamp":1745363080000},"page":"702-707","source":"Crossref","is-referenced-by-count":1,"title":["<i>CD36<\/i> c.1328_1331dup: A variant causing platelet <scp>CD36<\/scp> deficiency and its frequency in the Chinese population"],"prefix":"10.1111","volume":"120","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0852-3661","authenticated-orcid":false,"given":"Lilan","family":"Li","sequence":"first","affiliation":[{"name":"Nanning Institute of Transfusion Medicine Nanning Blood Center  Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoguang","family":"Wu","sequence":"additional","affiliation":[{"name":"Nanning Institute of Transfusion Medicine Nanning Blood Center  Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyang","family":"Liang","sequence":"additional","affiliation":[{"name":"Nanning Institute of Transfusion Medicine Nanning Blood Center  Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jierun","family":"Chen","sequence":"additional","affiliation":[{"name":"Nanning Institute of Transfusion Medicine Nanning Blood Center  Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Nanning Institute of Transfusion Medicine Nanning Blood Center  Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhoulin","family":"Zhong","sequence":"additional","affiliation":[{"name":"Nanning Institute of Transfusion Medicine Nanning Blood Center  Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhou","sequence":"additional","affiliation":[{"name":"Nanning Institute of Transfusion Medicine Nanning Blood Center  Nanning Guangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justin","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery University of California, San Diego  La Jolla California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.2119\/2006-00088.Rac"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tmrv.2016.12.001"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2023.03.010"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-27460-9"},{"key":"e_1_2_9_6_1","first-page":"18","article-title":"Experimental study on the platelet transfusion refractoriness mediated by the anti\u2010CD36: four cases reports in China","volume":"27","author":"Wu GG","year":"2014","journal-title":"Chinese J Blood Transfus"},{"key":"e_1_2_9_7_1","first-page":"2056","article-title":"Two novel mutations at the CD36 gene splicing sites and their molecular basis for the CD36 deficiency","volume":"28","author":"Li LL","year":"2020","journal-title":"Zhongguo Shi Yan Xue Ye Xue Za Zhi"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2017.01.009"},{"key":"e_1_2_9_9_1","unstructured":"WuGG LiLL JiangLH LiHY ChenJR.Method for establishing eukaryotic expression cell line of CD36 mutant gene that encodes CD36 deficiency. United States US 10711046 B22020."},{"key":"e_1_2_9_10_1","unstructured":"LiLL WuGG.Genotyping kit for detection of six CD36 mutant genes that encode GPIV deficiency. China CN201910908778.52020."}],"container-title":["Vox Sanguinis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vox.70034","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T23:30:07Z","timestamp":1753313407000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/vox.70034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,22]]},"references-count":9,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/vox.70034"],"URL":"https:\/\/doi.org\/10.1111\/vox.70034","archive":["Portico"],"relation":{},"ISSN":["0042-9007","1423-0410"],"issn-type":[{"value":"0042-9007","type":"print"},{"value":"1423-0410","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,22]]}}}