{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T23:39:58Z","timestamp":1793317198979,"version":"4.5.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,6,16]],"date-time":"2023-06-16T00:00:00Z","timestamp":1686873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["kidney-international.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1016\/j.kint.2023.05.006","type":"journal-article","created":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T02:16:57Z","timestamp":1684808217000},"page":"367-377","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":38,"title":["A wave of deep intronic mutations in X-linked Alport syndrome"],"prefix":"10.1016","volume":"104","author":[{"given":"Marie","family":"Boisson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Arrondel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Cagnard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Morini\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Za\u00efna A\u00eft","family":"Arkoub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Saei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Heidet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Kachmar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Hummel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Knebelmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-No\u00eblle","family":"Bonnet-Dupeyron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassane","family":"Izzedine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Legrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Couarch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Gribouval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9lanie","family":"Parisot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschk\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Dorval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.kint.2023.05.006_bib1","doi-asserted-by":"crossref","first-page":"2470","DOI":"10.1172\/JCI119431","article-title":"Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis","volume":"99","author":"Kalluri","year":"1997","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.kint.2023.05.006_bib2","doi-asserted-by":"crossref","first-page":"8767","DOI":"10.1074\/jbc.273.15.8767","article-title":"Glomerular basement membrane: identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome","volume":"273","author":"Gunwar","year":"1998","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.kint.2023.05.006_bib3","doi-asserted-by":"crossref","first-page":"2740","DOI":"10.1681\/ASN.2013080912","article-title":"Improving mutation screening in familial hematuric nephropathies through next generation sequencing","volume":"25","author":"Morini\u00e8re","year":"2014","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2023.05.006_bib4","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","article-title":"X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males","volume":"11","author":"Jais","year":"2000","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2023.05.006_bib5","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1681\/ASN.2009070784","article-title":"Genotype-phenotype correlation in X-linked Alport syndrome","volume":"21","author":"Bekheirnia","year":"2010","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2023.05.006_bib6","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1093\/ndt\/17.7.1218","article-title":"Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling","volume":"17","author":"Gross","year":"2002","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.kint.2023.05.006_bib7","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ekir.2016.09.056","article-title":"Negative staining for COL4A5 correlates with worse prognosis and more severe ultrastructural alterations in males with Alport syndrome","volume":"2","author":"Said","year":"2017","journal-title":"Kidney Int Rep"},{"key":"10.1016\/j.kint.2023.05.006_bib8","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1681\/ASN.V981433","article-title":"Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome","volume":"9","author":"Nakanishi","year":"1998","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2023.05.006_bib9","doi-asserted-by":"crossref","first-page":"e883","DOI":"10.1002\/mgg3.883","article-title":"Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome","volume":"7","author":"Yamamura","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.kint.2023.05.006_bib10","article-title":"mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing","volume":"11","author":"Wang","year":"2021","journal-title":"Sci Rep"},{"key":"10.1016\/j.kint.2023.05.006_bib11","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.kint.2023.05.006_bib12","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1101\/gad.1048803","article-title":"Pre-mRNA splicing and human disease","volume":"17","author":"Faustino","year":"2003","journal-title":"Genes Dev"},{"key":"10.1016\/j.kint.2023.05.006_bib13","first-page":"2675","article-title":"The missing puzzle piece: splicing mutations","volume":"6","author":"Lewandowska","year":"2013","journal-title":"Int J Clin Exp Pathol"},{"key":"10.1016\/j.kint.2023.05.006_bib14","doi-asserted-by":"crossref","first-page":"R143","DOI":"10.1186\/gb-2013-14-12-r143","article-title":"The evolution, impact and properties of exonic splice enhancers","volume":"14","author":"C\u00e1ceres","year":"2013","journal-title":"Genome Biol"},{"key":"10.1016\/j.kint.2023.05.006_bib15","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1038\/s41431-021-00858-1","article-title":"Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria","volume":"29","author":"Savige","year":"2021","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.kint.2023.05.006_bib16","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aal5209","article-title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","volume":"9","author":"Cummings","year":"2017","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.kint.2023.05.006_bib17","doi-asserted-by":"crossref","first-page":"2777","DOI":"10.1038\/s41467-020-16605-x","article-title":"Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5","volume":"11","author":"Yamamura","year":"2020","journal-title":"Nat Commun"},{"key":"10.1016\/j.kint.2023.05.006_bib18","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1681\/ASN.2018030228","article-title":"Detection of splicing abnormalities and genotype-phenotype correlation in X-linked Alport syndrome","volume":"29","author":"Horinouchi","year":"2018","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2023.05.006_bib19","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/j.molcel.2019.11.017","article-title":"Splicing kinetics and coordination revealed by direct nascent RNA sequencing through nanopores","volume":"77","author":"Drexler","year":"2020","journal-title":"Mol Cell"},{"key":"10.1016\/j.kint.2023.05.006_bib20","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s13059-018-1417-1","article-title":"SUPPA2: fast, accurate, and uncertainty-aware differential splicing analysis across multiple conditions","volume":"19","author":"Trincado","year":"2018","journal-title":"Genome Biol"},{"key":"10.1016\/j.kint.2023.05.006_bib21","doi-asserted-by":"crossref","first-page":"e39","DOI":"10.1093\/nar\/gks1026","article-title":"DiffSplice: the genome-wide detection of differential splicing events with RNA-seq","volume":"41","author":"Hu","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.kint.2023.05.006_bib22","doi-asserted-by":"crossref","first-page":"E5593","DOI":"10.1073\/pnas.1419161111","article-title":"rMATS: robust and flexible detection of differential alternative splicing from replicate RNA-Seq data","volume":"111","author":"Shen","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.kint.2023.05.006_bib23","doi-asserted-by":"crossref","first-page":"4468","DOI":"10.3390\/ijms22094468","article-title":"AS-Quant: detection and visualization of alternative splicing events with RNA-seq data","volume":"22","author":"Fahmi","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.kint.2023.05.006_bib24","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev.biochem.72.121801.161720","article-title":"Mechanisms of alternative pre-messenger RNA splicing","volume":"72","author":"Black","year":"2003","journal-title":"Annu Rev Biochem"},{"key":"10.1016\/j.kint.2023.05.006_bib25","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1007\/s00438-017-1350-0","article-title":"The determinants of alternative RNA splicing in human cells","volume":"292","author":"Ramanouskaya","year":"2017","journal-title":"Mol Genet Genom"},{"key":"10.1016\/j.kint.2023.05.006_bib26","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/nrm2104","article-title":"The highways and byways of mRNA decay","volume":"8","author":"Garneau","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.kint.2023.05.006_bib27","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1681\/ASN.2007121328","article-title":"Urine podocyte mRNAs mark\u00a0progression of renal disease","volume":"20","author":"Sato","year":"2009","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2023.05.006_bib28","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.kint.2023.05.006_bib29","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1016\/j.ajhg.2021.06.014","article-title":"Interpretable prioritization of splice variants in diagnostic next-generation sequencing","volume":"108","author":"Danis","year":"2021","journal-title":"Am J Hum Genet"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253823003769?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253823003769?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T01:05:17Z","timestamp":1758762317000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253823003769"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S0085253823003769"],"URL":"https:\/\/doi.org\/10.1016\/j.kint.2023.05.006","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A wave of deep intronic mutations in X-linked Alport syndrome","name":"articletitle","label":"Article Title"},{"value":"Kidney International","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.kint.2023.05.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 International Society of Nephrology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}