{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:41:19Z","timestamp":1787496079563,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,23]],"date-time":"2019-04-23T00:00:00Z","timestamp":1555977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC1000503"],"award-info":[{"award-number":["2016YFC1000503"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia disorder.\n                    <jats:italic>ANK1<\/jats:italic>\n                    mutations account for most HS cases, but pathogenicity analysis and functional research have not been widely performed for these mutations. In this study, in order to confirm diagnosis, gene mutation was screened in two unrelated Chinese families with HS by a next\u2010generation sequencing (NGS) panel and then confirmed by Sanger sequencing. Two novel heterozygous mutations (c.C841T, p.R281X and c.T290G, p.L97R) of the\n                    <jats:italic>ANK1<\/jats:italic>\n                    gene were identified in the two families respectively. Then, the pathogenicity of the two new mutations and two previously reported\n                    <jats:italic>ANK1<\/jats:italic>\n                    mutations (c.C648G, p.Y216X and c.G424T, p.E142X) were studied by in vitro experiments. The four mutations increased the osmotic fragility of cells, reduced the stabilities of ANK1 proteins and prevented the protein from localizing to the plasma membrane and interacting with SPTB and SLC4A1. We classified these four mutations into disease\u2010causing mutations for HS. Thus, conducting the same mutation test and providing genetic counselling for the two families were meaningful and significant. Moreover, the identification of two novel mutations enriches the\n                    <jats:italic>ANK1<\/jats:italic>\n                    mutation database, especially in China.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.14343","type":"journal-article","created":{"date-parts":[[2019,4,23]],"date-time":"2019-04-23T20:49:15Z","timestamp":1556052555000},"page":"4454-4463","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Two novel\n                    <i>ANK1<\/i>\n                    loss\u2010of\u2010function mutations in Chinese families with hereditary spherocytosis"],"prefix":"10.1111","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7369-9276","authenticated-orcid":false,"given":"Lili","family":"Hao","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanshan","family":"Li","sequence":"additional","affiliation":[{"name":"Shanghai Children's Hospital, Shanghai Jiao Tong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duan","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences Fudan University Shanghai China"},{"name":"Pediatrics Research Institute Children's Hospital of Fudan University Shanghai China"},{"name":"Research Center for Birth Defects, Institutes of Biomedical Sciences Fudan University Shanghai China"},{"name":"Shanghai Key Lab of Birth Defect Children's Hospital of Fudan University Shanghai 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