{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T08:26:34Z","timestamp":1787127994917,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"vor","delay-in-days":230,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LHDMY22H310001"],"award-info":[{"award-number":["LHDMY22H310001"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LBY23H200004"],"award-info":[{"award-number":["LBY23H200004"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82473959"],"award-info":[{"award-number":["82473959"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by spherical erythrocytes, splenomegaly, and increased osmotic fragility, with\n                    <jats:italic>ANK1<\/jats:italic>\n                    mutations being the most frequent cause. We identified a novel\n                    <jats:italic>ANK1<\/jats:italic>\n                    mutation (c.5096G&gt;A, p.R1699K) in a patient with classic HS phenotypes and a family history of hemolytic anemia. To explore its pathogenicity, we performed a series of hematological and morphological analyses. Compared with wild\u2010type mice, the\n                    <jats:italic>Ank1<\/jats:italic>\n                    c.5198G&gt;A knock\u2010in mice displayed typical HS features. Hematologically, they showed reduced MCV, MCH, and MCHC. The EMA fluorescence intensity was significantly decreased, and RBCs exhibited increased osmotic fragility. Morphologically, peripheral smears revealed abundant spherocytes, and electron microscopy showed a transformation from normal biconcave discs to spherical erythrocytes. Additionally, the\n                    <jats:italic>Ank1<\/jats:italic>\n                    c.5198G&gt;A knock\u2010in mice presented with significant splenomegaly. Mechanistically, coimmunoprecipitation analysis indicated a significantly weakened association between ankyrin\u20101 and\n                    <jats:italic>\u03b2<\/jats:italic>\n                    \u2010spectrin in the\n                    <jats:italic>Ank1<\/jats:italic>\n                    c.5198G&gt;A knock\u2010in mice. This study provides in vivo evidence that the Ank1 R1733K mutation impairs erythrocyte membrane stability and cytoskeletal integrity, recapitulating the HS phenotype in mice. Our findings support the pathogenicity of the\n                    <jats:italic>ANK1<\/jats:italic>\n                    c.5096G&gt;A mutation and offer a useful model for further investigating the molecular mechanisms of HS.\n                  <\/jats:p>","DOI":"10.1155\/humu\/7320235","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T07:55:29Z","timestamp":1787126129000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Pathogenic\n                    <i>ANK1<\/i>\n                    c.5096G&gt;A Mutation Disrupting the Ankyrin\u20101\/\n                    <i>\u03b2<\/i>\n                    \u2010Spectrin Interaction in Hereditary Spherocytosis"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4496-6571","authenticated-orcid":false,"given":"Xu","family":"Linglong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1737-2091","authenticated-orcid":false,"given":"Gao","family":"Jingwen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5251-4644","authenticated-orcid":false,"given":"Zhu","family":"Wenting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3031-1183","authenticated-orcid":false,"given":"Lu","family":"Nina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5648-8563","authenticated-orcid":false,"given":"Ding","family":"Xiaoxiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-9971-4491","authenticated-orcid":false,"given":"Zhao","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0532-9441","authenticated-orcid":false,"given":"Zhou","family":"Siyun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5502-7673","authenticated-orcid":false,"given":"Cai","family":"Zihao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8555-6109","authenticated-orcid":false,"given":"Zhong","family":"Zhengyang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9689-1228","authenticated-orcid":false,"given":"Zhu","family":"Bo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7228-8288","authenticated-orcid":false,"given":"Chen","family":"Sai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2768-6813","authenticated-orcid":false,"given":"Guo","family":"Yanrong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4733-6351","authenticated-orcid":false,"given":"Chen","family":"Jianlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7962-0840","authenticated-orcid":false,"given":"Chen","family":"Jie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0820-4652","authenticated-orcid":false,"given":"Ding","family":"Xiaofei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1885-7374","authenticated-orcid":false,"given":"Chen","family":"Guang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,19]]},"reference":[{"key":"e_1_2_14_1_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05052.x"},{"key":"e_1_2_14_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2013.04.003"},{"key":"e_1_2_14_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61588-3"},{"key":"e_1_2_14_4_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms242317021"},{"key":"e_1_2_14_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000486229"},{"key":"e_1_2_14_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tracli.2010.05.006"},{"key":"e_1_2_14_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.14376"},{"key":"e_1_2_14_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.16750"},{"key":"e_1_2_14_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.16126"},{"key":"e_1_2_14_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14343"},{"key":"e_1_2_14_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.23363"},{"key":"e_1_2_14_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exphem.2010.12.009"},{"key":"e_1_2_14_13_2","doi-asserted-by":"publisher","DOI":"10.5936\/csbj.201303012"},{"key":"e_1_2_14_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-07445-x"},{"key":"e_1_2_14_15_2","doi-asserted-by":"publisher","DOI":"10.3390\/life13010151"}],"container-title":["Human 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