{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T17:09:50Z","timestamp":1762880990752,"version":"3.45.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T00:00:00Z","timestamp":1742774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T00:00:00Z","timestamp":1742774400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Res"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1038\/s41390-025-03977-3","type":"journal-article","created":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T19:54:05Z","timestamp":1742846045000},"page":"1876-1883","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exploring genotype-phenotype correlation in nucleoporin nephropathy"],"prefix":"10.1038","volume":"98","author":[{"given":"Yuxin","family":"Pei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengjie","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Zhilang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liping","family":"Rong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lizhi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyun","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,3,24]]},"reference":[{"key":"3977_CR1","doi-asserted-by":"publisher","first-page":"1162","DOI":"10.1016\/j.cell.2016.01.034","volume":"164","author":"KE Knockenhauer","year":"2016","unstructured":"Knockenhauer, K. E. & Schwartz, T. U. The Nuclear Pore Complex as a Flexible and Dynamic Gate. Cell 164, 1162\u20131171 (2016).","journal-title":"Cell"},{"key":"3977_CR2","doi-asserted-by":"publisher","first-page":"1388","DOI":"10.1038\/ejhg.2016.25","volume":"24","author":"V Nofrini","year":"2016","unstructured":"Nofrini, V., Di Giacomo, D. & Mecucci, C. Nucleoporin genes in human diseases. Eur. J. Hum. Genet 24, 1388\u20131395 (2016).","journal-title":"Eur. J. Hum. Genet"},{"key":"3977_CR3","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1016\/j.ajhg.2015.08.013","volume":"97","author":"N Miyake","year":"2015","unstructured":"Miyake, N. et al. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. Am. J. Hum. Genet. 97, 555\u2013566 (2015).","journal-title":"Am. J. Hum. Genet."},{"key":"3977_CR4","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1053\/j.ajkd.2019.01.015","volume":"73","author":"BS Lipska-Zietkiewicz","year":"2019","unstructured":"Lipska-Zietkiewicz, B. S. & Schaefer, F. NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli. Am. J. Kidney Dis. 73, 890\u2013892 (2019).","journal-title":"Am. J. Kidney Dis."},{"key":"3977_CR5","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1093\/ndt\/gfw103","volume":"32","author":"E Park","year":"2017","unstructured":"Park, E. et al. NUP107 mutations in children with steroid-resistant nephrotic syndrome. Nephrol. Dial. Transpl. 32, 1013\u20131017 (2017).","journal-title":"Nephrol. Dial. Transpl."},{"key":"3977_CR6","doi-asserted-by":"crossref","unstructured":"Gambadauro, A. et al. NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron. Genes 14, 2143 (2023).","DOI":"10.3390\/genes14122143"},{"key":"3977_CR7","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1111\/cge.13606","volume":"96","author":"J Rao","year":"2019","unstructured":"Rao, J. et al. Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system. Clin. Genet. 96, 402\u2013410 (2019).","journal-title":"Clin. Genet."},{"key":"3977_CR8","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1038\/s41598-019-57149-5","volume":"10","author":"C Nagano","year":"2020","unstructured":"Nagano, C. et al. Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci. Rep. 10, 270 (2020).","journal-title":"Sci. Rep."},{"key":"3977_CR9","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1136\/jmedgenet-2016-104237","volume":"54","author":"RO Rosti","year":"2017","unstructured":"Rosti, R. O. et al. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J. Med. Genet. 54, 399\u2013403 (2017).","journal-title":"J. Med. Genet."},{"key":"3977_CR10","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1016\/j.kint.2016.10.013","volume":"91","author":"A Bierzynska","year":"2017","unstructured":"Bierzynska, A. et al. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney Int. 91, 937\u2013947 (2017).","journal-title":"Kidney Int."},{"key":"3977_CR11","doi-asserted-by":"publisher","first-page":"4313","DOI":"10.1172\/JCI98688","volume":"128","author":"DA Braun","year":"2018","unstructured":"Braun, D. A. et al. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J. Clin. Invest. 128, 4313\u20134328 (2018).","journal-title":"J. Clin. Invest."},{"key":"3977_CR12","doi-asserted-by":"publisher","first-page":"1312","DOI":"10.1016\/j.ekir.2019.05.1157","volume":"4","author":"T Hashimoto","year":"2019","unstructured":"Hashimoto, T. et al. In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental Glomerulosclerosis. Kidney Int. Rep. 4, 1312\u20131322 (2019).","journal-title":"Kidney Int. Rep."},{"key":"3977_CR13","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1186\/s12882-019-1458-z","volume":"20","author":"I Sandokji","year":"2019","unstructured":"Sandokji, I. et al. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report. Bmc Nephrol. 20, 271 (2019).","journal-title":"Bmc Nephrol."},{"key":"3977_CR14","doi-asserted-by":"publisher","first-page":"53","DOI":"10.2215\/CJN.04120417","volume":"13","author":"JK Warejko","year":"2018","unstructured":"Warejko, J. K. et al. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin. J. Am. Soc. Nephro 13, 53\u201362 (2018).","journal-title":"Clin. J. Am. Soc. Nephro"},{"key":"3977_CR15","doi-asserted-by":"publisher","first-page":"2643","DOI":"10.1007\/s00467-022-05440-5","volume":"37","author":"Bierzynska","year":"2022","unstructured":"Bierzynska et al. Exploring the Relevance of NUP93 Variants in Steroid-Resistant Nephrotic Syndrome Using next Generation Sequencing and a Fly Kidney Model. Pediatr. Nephrol. 37, 2643\u20132656 (2022).","journal-title":"Pediatr. Nephrol."},{"key":"3977_CR16","doi-asserted-by":"publisher","first-page":"1347","DOI":"10.1007\/s00467-018-3950-2","volume":"33","author":"M Bezdicka","year":"2018","unstructured":"Bezdicka, M. 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. 33, 1347\u20131363 (2018).","journal-title":"Pediatr. Nephrol."},{"key":"3977_CR17","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1038\/ng.3512","volume":"48","author":"DA Braun","year":"2016","unstructured":"Braun, D. A. et al. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat. Genet. 48, 457\u2013465 (2016).","journal-title":"Nat. Genet."},{"key":"3977_CR18","doi-asserted-by":"crossref","unstructured":"Wasilewska, A., Rybi-Szuminska, A. & Dubiela, P. Steroid-Resistant Nephrotic Syndrome Caused by NUP93 Pathogenic Variants. J. Clin. Med. 12, 5810 (2023).","DOI":"10.3390\/jcm12185810"},{"key":"3977_CR19","doi-asserted-by":"publisher","first-page":"e24627","DOI":"10.1097\/MD.0000000000024627","volume":"100","author":"B Zhao","year":"2021","unstructured":"Zhao, B. et al. Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report. Medicine 100, e24627 (2021).","journal-title":"Medicine"},{"key":"3977_CR20","doi-asserted-by":"publisher","first-page":"e05111","DOI":"10.1002\/ccr3.5111","volume":"9","author":"R Acharya","year":"2021","unstructured":"Acharya, R. & Upadhyay, K. End-stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygous NUP93 variant. Clin. Case Rep. 9, e05111 (2021).","journal-title":"Clin. Case Rep."},{"key":"3977_CR21","doi-asserted-by":"crossref","unstructured":"Park, E. et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9 (2013).","DOI":"10.3390\/jcm9062013"},{"key":"3977_CR22","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1186\/s13052-024-01656-3","volume":"50","author":"Y Han","year":"2024","unstructured":"Han, Y. et al. Mutations in the NUP93, NUP107 and NUP160 Genes Cause Steroid-Resistant Nephrotic Syndrome in Chinese Children. Ital. J. Pediatr. 50, 81 (2024).","journal-title":"Ital. J. Pediatr."},{"key":"3977_CR23","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1111\/cge.14339","volume":"104","author":"Q Wang","year":"2023","unstructured":"Wang, Q. et al. Steroid-Resistant Nephrotic Syndrome Caused by Nuclear Pore Gene NUP133 Variation. Clin. Genet. 104, 272\u2013274 (2023).","journal-title":"Clin. Genet."},{"key":"3977_CR24","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1681\/ASN.2018080786","volume":"30","author":"F Zhao","year":"2019","unstructured":"Zhao, F. et al. Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome. J. Am. Soc. Nephrol. 30, 840\u2013853 (2019).","journal-title":"J. Am. Soc. Nephrol."},{"key":"3977_CR25","doi-asserted-by":"publisher","first-page":"53","DOI":"10.2215\/CJN.04120417","volume":"13","author":"JK Warejko","year":"2018","unstructured":"Warejko, J. K. et al. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin. J. Am. Soc. Nephrol. 13, 53\u201362 (2018).","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"3977_CR26","doi-asserted-by":"crossref","unstructured":"Park, E., et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9 (2013).","DOI":"10.3390\/jcm9062013"},{"key":"3977_CR27","doi-asserted-by":"publisher","first-page":"1181","DOI":"10.1007\/s00467-017-3590-y","volume":"32","author":"F Wang","year":"2017","unstructured":"Wang, F. et al. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome. Pediatr. Nephrol. 32, 1181\u20131192 (2017).","journal-title":"Pediatr. Nephrol."},{"key":"3977_CR28","doi-asserted-by":"publisher","first-page":"592","DOI":"10.2215\/CJN.06260614","volume":"10","author":"A Trautmann","year":"2015","unstructured":"Trautmann, A. et al. Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort. Clin. J. Am. Soc. Nephrol. 10, 592\u2013600 (2015).","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"3977_CR29","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.gene.2017.04.050","volume":"625","author":"Y Wang","year":"2017","unstructured":"Wang, Y. et al. Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children. Gene 625, 15\u201320 (2017).","journal-title":"Gene"},{"key":"3977_CR30","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1681\/ASN.2014050489","volume":"26","author":"CE Sadowski","year":"2015","unstructured":"Sadowski, C. E. et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J. AM Soc. Nephrol. 26, 1279\u20131289 (2015).","journal-title":"J. AM Soc. Nephrol."},{"key":"3977_CR31","doi-asserted-by":"publisher","first-page":"3954","DOI":"10.1016\/j.transproceed.2018.07.010","volume":"50","author":"T Seeman","year":"2018","unstructured":"Seeman, T. & Vondrak, K. First Report of Recurrent Nephrotic Syndrome After Kidney Transplantation in a Patient With NUP93 Gene Mutations: A Case Report. Transpl. P 50, 3954\u20133956 (2018).","journal-title":"Transpl. P"}],"container-title":["Pediatric Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41390-025-03977-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41390-025-03977-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41390-025-03977-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T17:05:57Z","timestamp":1762880757000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41390-025-03977-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,24]]},"references-count":31,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["3977"],"URL":"https:\/\/doi.org\/10.1038\/s41390-025-03977-3","relation":{},"ISSN":["0031-3998","1530-0447"],"issn-type":[{"type":"print","value":"0031-3998"},{"type":"electronic","value":"1530-0447"}],"subject":[],"published":{"date-parts":[[2025,3,24]]},"assertion":[{"value":"20 February 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 August 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 February 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 March 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Consent for publication was obtained from the institution and the parents of the patients.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}