{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T20:39:52Z","timestamp":1780087192648,"version":"3.54.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T00:00:00Z","timestamp":1767657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T00:00:00Z","timestamp":1767657600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"This work was supported by the Young Doctor Training Program of Xinqiao Hospital","award":["2023YQB024"],"award-info":[{"award-number":["2023YQB024"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CEN Case Rep"],"DOI":"10.1007\/s13730-025-01051-9","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T03:58:31Z","timestamp":1767671911000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and genetic diagnosis of a patient with focal segmental glomerulosclerosis due to a novel variant of the ANLN gene"],"prefix":"10.1007","volume":"15","author":[{"given":"Jun","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juchun","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tangli","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiachuan","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"issue":"5","key":"1051_CR1","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1159\/000517108","volume":"7","author":"K Sun","year":"2021","unstructured":"Sun K, Xie Q, Hao CM. Mechanisms of scarring in focal segmental glomerulosclerosis. Kidney Dis (Basel). 2021;7(5):350\u20138.","journal-title":"Kidney Dis (Basel)"},{"issue":"3","key":"1051_CR2","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1007\/s11684-017-0564-1","volume":"11","author":"J Liu","year":"2017","unstructured":"Liu J, Wang W. Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis. Front Med. 2017;11(3):333\u20139.","journal-title":"Front Med"},{"issue":"3","key":"1051_CR3","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1007\/s00467-023-06073-y","volume":"39","author":"V Zhu","year":"2024","unstructured":"Zhu V, Huang T, Wang D, Colville D, Mack H, Savige J. Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis. Pediatr Nephrol. 2024;39(3):655\u201379.","journal-title":"Pediatr Nephrol"},{"issue":"9","key":"1051_CR4","doi-asserted-by":"publisher","first-page":"1991","DOI":"10.1681\/ASN.2013090976","volume":"25","author":"RA Gbadegesin","year":"2014","unstructured":"Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, et al. Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. J Am Soc Nephrol. 2014;25(9):1991\u20132002.","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"1051_CR5","doi-asserted-by":"publisher","first-page":"2110","DOI":"10.1681\/ASN.2017121338","volume":"29","author":"G Hall","year":"2018","unstructured":"Hall G, Lane BM, Khan K, Pediaditakis I, Xiao J, Wu G, et al. The human FSGS-Causing ANLN R431C mutation induces dysregulated PI3K\/AKT\/mTOR\/Rac1 signaling in podocytes. J Am Soc Nephrol. 2018;29(8):2110\u201322.","journal-title":"J Am Soc Nephrol"},{"issue":"3","key":"1051_CR6","first-page":"385","volume":"32","author":"S Geminiganesan","year":"2021","unstructured":"Geminiganesan S, Ganesan S, Jayaraj J, Barathi G, Muthu Kumar S, Samy NK. A puffy Child - A rare case of steroid resistant nephrotic syndrome with ANLN mutation. EJIFCC. 2021;32(3):385\u201391.","journal-title":"EJIFCC"},{"issue":"1","key":"1051_CR7","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1186\/s12964-023-01218-w","volume":"21","author":"L Lin","year":"2023","unstructured":"Lin L, Ye Y, Fu H, Gu W, Zhao M, Sun J, et al. Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism. Cell Commun Signal. 2023;21(1):324.","journal-title":"Cell Commun Signal"},{"issue":"2","key":"1051_CR8","doi-asserted-by":"publisher","first-page":"e00525","DOI":"10.1002\/mgg3.525","volume":"7","author":"L Deng","year":"2019","unstructured":"Deng L, Liu Y, Xia W, Hu J, Ma Z. Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family. Mol Genet Genomic Med. 2019;7(2):e00525.","journal-title":"Mol Genet Genomic Med"},{"issue":"5","key":"1051_CR9","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, ACMG Laboratory Quality Assurance Committee, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"issue":"8","key":"1051_CR10","doi-asserted-by":"publisher","first-page":"1347","DOI":"10.1007\/s00467-018-3950-2","volume":"33","author":"M Bezd\u00ed\u010dka","year":"2018","unstructured":"Bezd\u00ed\u010dka M, \u0160tolbov\u00e1 \u0160, Seeman T, Cinek O, Malina M, \u0160im\u00e1nkov\u00e1 N, et al. Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93. Pediatr Nephrol. 2018;33(8):1347\u201363.","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"1051_CR11","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1159\/000484717","volume":"4","author":"JH Hou","year":"2018","unstructured":"Hou JH, Zhu HX, Zhou ML, Le WB, Zeng CH, Liang SS, et al. Changes in the spectrum of kidney diseases: an analysis of 40,759 Biopsy-Proven cases from 2003 to 2014 in China. Kidney Dis (Basel). 2018;4(1):10\u20139.","journal-title":"Kidney Dis (Basel)"},{"issue":"6","key":"1051_CR12","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1016\/j.semnephrol.2016.09.010","volume":"36","author":"M Pollak","year":"2016","unstructured":"Pollak M. Genetics of Familial FSGS. Semin Nephrol. 2016;36(6):467\u201372.","journal-title":"Semin Nephrol"},{"issue":"4","key":"1051_CR13","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1007\/s00467-019-04225-7","volume":"35","author":"J Zhao","year":"2020","unstructured":"Zhao J, Liu Z. Treatment of nephrotic syndrome: going beyond immunosuppressive therapy. Pediatr Nephrol. 2020;35(4):569\u201379.","journal-title":"Pediatr Nephrol"},{"key":"1051_CR14","doi-asserted-by":"publisher","first-page":"117675","DOI":"10.1016\/j.cca.2023.117675","volume":"552","author":"W Liu","year":"2024","unstructured":"Liu W, Su ZH, Wan QJ. Proteinuria selectivity index in renal disease. Clin Chim Acta. 2024;552:117675.","journal-title":"Clin Chim Acta"},{"issue":"1","key":"1051_CR15","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1007\/s12020-024-04145-z","volume":"88","author":"ST Yu","year":"2025","unstructured":"Yu ST, Sun BH, Ge JN, Wei ZG, Zhang ZC, Chen WS, et al. Anillin interacts with RhoA to promote tumor progression in anaplastic thyroid cancer by activating the PI3K\/AKT pathway. Endocrine. 2025;88(1):211\u201322.","journal-title":"Endocrine"},{"issue":"3","key":"1051_CR16","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1159\/000524204","volume":"107","author":"S Chen","year":"2023","unstructured":"Chen S, Gao Y, Chen F, Wang TB. ANLN serves as an oncogene in bladder urothelial carcinoma via activating JNK signaling pathway. Urol Int. 2023;107(3):310\u201320.","journal-title":"Urol Int"},{"issue":"2","key":"1051_CR17","doi-asserted-by":"publisher","first-page":"e1006625","DOI":"10.1371\/journal.pgen.1006625","volume":"13","author":"S Holopainen","year":"2017","unstructured":"Holopainen S, Hyt\u00f6nen MK, Syrj\u00e4 P, Arumilli M, J\u00e4rvinen AK, Rajam\u00e4ki M, et al. ANLN Truncation causes a Familial fatal acute respiratory distress syndrome in dalmatian dogs. PLoS Genet. 2017;13(2):e1006625.","journal-title":"PLoS Genet"}],"container-title":["CEN Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-01051-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13730-025-01051-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13730-025-01051-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T03:58:31Z","timestamp":1767671911000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13730-025-01051-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,6]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,2]]}},"alternative-id":["1051"],"URL":"https:\/\/doi.org\/10.1007\/s13730-025-01051-9","relation":{},"ISSN":["2192-4449"],"issn-type":[{"value":"2192-4449","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,6]]},"assertion":[{"value":"4 August 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 October 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have declared that no conflict of interest exists.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the Helsinki declaration and its amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consents for publication of identifying images and other personal and clinical details were obtained from the patient and his family.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"11"}}