{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:00:57Z","timestamp":1789952457792,"version":"4.0.1"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2016,12,24]],"date-time":"2016-12-24T00:00:00Z","timestamp":1482537600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R56DK100593"],"award-info":[{"award-number":["R56DK100593"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R01DK078314"],"award-info":[{"award-number":["R01DK078314"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R01DK058366"],"award-info":[{"award-number":["R01DK058366"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["T32DK007126"],"award-info":[{"award-number":["T32DK007126"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009268","name":"Alport Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009268","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1007\/s00467-016-3565-4","type":"journal-article","created":{"date-parts":[[2016,12,24]],"date-time":"2016-12-24T23:48:15Z","timestamp":1482623295000},"page":"997-1003","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome"],"prefix":"10.1007","volume":"32","author":[{"given":"Andrew F.","family":"Malone","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven D.","family":"Funk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek","family":"Alhamad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1510-8714","authenticated-orcid":false,"given":"Jeffrey H.","family":"Miner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,12,24]]},"reference":[{"key":"3565_CR1","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1097\/00005792-199909000-00005","volume":"78","author":"CE Kashtan","year":"1999","unstructured":"Kashtan CE (1999) Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore) 78:338\u2013360","journal-title":"Medicine (Baltimore)"},{"key":"3565_CR2","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1038\/ki.1993.8","volume":"43","author":"K Tryggvason","year":"1993","unstructured":"Tryggvason K, Zhou J, Hostikka SL, Shows TB (1993) Molecular genetics of Alport syndrome. Kidney Int 43:38\u201344","journal-title":"Kidney Int"},{"key":"3565_CR3","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1159\/000188020","volume":"67","author":"A Renieri","year":"1994","unstructured":"Renieri A, Meroni M, Sessa A, Battini G, Serbelloni P, Torri Tarelli L, Seri M, Galli L, De Marchi M (1994) Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain. Nephron 67:444\u2013449","journal-title":"Nephron"},{"key":"3565_CR4","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1111\/j.1399-0004.2012.01849.x","volume":"82","author":"D Tsiakkis","year":"2012","unstructured":"Tsiakkis D, Pieri M, Koupepidou P, Demosthenous P, Panayidou K, Deltas C (2012) Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5. Clin Genet 82:297\u2013299","journal-title":"Clin Genet"},{"key":"3565_CR5","first-page":"207","volume":"17","author":"A Pierides","year":"2013","unstructured":"Pierides A, Voskarides K, Kkolou M, Hadjigavriel M, Deltas C (2013) X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure. Hippokratia 17:207\u2013213","journal-title":"Hippokratia"},{"key":"3565_CR6","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1111\/j.1399-0004.2011.01647.x","volume":"81","author":"P Demosthenous","year":"2012","unstructured":"Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C (2012) X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. Clin Genet 81:240\u2013248","journal-title":"Clin Genet"},{"key":"3565_CR7","doi-asserted-by":"crossref","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2000) X-linked Alport syndrome: natural history in 195 families and genotype\u2013phenotype correlations in males. J Am Soc Nephrol 11:649\u2013657","DOI":"10.1681\/ASN.V114649"},{"key":"3565_CR8","doi-asserted-by":"publisher","first-page":"2603","DOI":"10.1097\/01.ASN.0000090034.71205.74","volume":"14","author":"JP Jais","year":"2003","unstructured":"Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2003) X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a \u201cEuropean Community Alport Syndrome Concerted Action\u201d study. J Am Soc Nephrol 14:2603\u20132610","journal-title":"J Am Soc Nephrol"},{"key":"3565_CR9","doi-asserted-by":"publisher","unstructured":"Hertz JM, Thomassen M, Storey H, Flinter F (2012) Clinical utility gene card for: alport syndrome. Eur J Hum Genet 20(6). doi: 10.1038\/ejhg.2011.237","DOI":"10.1038\/ejhg.2011.237"},{"key":"3565_CR10","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1053\/j.ajkd.2015.11.023","volume":"67","author":"CP Larsen","year":"2016","unstructured":"Larsen CP, Durfee T, Wilson JD, Beggs ML (2016) A custom targeted next-generation sequencing gene panel for the diagnosis of genetic nephropathies. Am J Kidney Dis 67:992\u2013993","journal-title":"Am J Kidney Dis"},{"key":"3565_CR11","doi-asserted-by":"publisher","first-page":"1835","DOI":"10.1016\/j.molimm.2006.10.005","volume":"44","author":"SC Nilsson","year":"2007","unstructured":"Nilsson SC, Karpman D, Vaziri-Sani F, Kristoffersson AC, Salomon R, Provot F, Fremeaux-Bacchi V, Trouw LA, Blom AM (2007) A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation. Mol Immunol 44:1835\u20131844","journal-title":"Mol Immunol"},{"key":"3565_CR12","doi-asserted-by":"publisher","first-page":"e67","DOI":"10.1093\/nar\/gkp215","volume":"37","author":"FO Desmet","year":"2009","unstructured":"Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C (2009) Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67","journal-title":"Nucleic Acids Res"},{"key":"3565_CR13","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1089\/1066527041410418","volume":"11","author":"G Yeo","year":"2004","unstructured":"Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377\u2013394","journal-title":"J Comput Biol"},{"key":"3565_CR14","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/0022-2836(91)90380-O","volume":"220","author":"S Brunak","year":"1991","unstructured":"Brunak S, Engelbrecht J, Knudsen S (1991) Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 220:49\u201365","journal-title":"J Mol Biol"},{"key":"3565_CR15","doi-asserted-by":"publisher","first-page":"W189","DOI":"10.1093\/nar\/gkp320","volume":"37","author":"S Schwartz","year":"2009","unstructured":"Schwartz S, Hall E, Ast G (2009) SROOGLE: webserver for integrative, user-friendly visualization of splicing signals. Nucleic Acids Res 37:W189\u2013W192","journal-title":"Nucleic Acids Res"},{"key":"3565_CR16","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1007\/978-1-61779-767-5_4","volume":"867","author":"MP Vreeswijk","year":"2012","unstructured":"Vreeswijk MP, van der Klift HM (2012) Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders. Methods Mol Biol 867:49\u201363","journal-title":"Methods Mol Biol"},{"key":"3565_CR17","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1136\/jmg.2007.056895","volume":"45","author":"C Bonnet","year":"2008","unstructured":"Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Fr\u00e9bourg T, Hardouin A, Tosi M (2008) Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J Med Genet 45:438\u2013446","journal-title":"J Med Genet"},{"key":"3565_CR18","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1007\/978-1-60761-759-4_15","volume":"653","author":"P Gaildrat","year":"2010","unstructured":"Gaildrat P, Killian A, Martins A, Tournier I, Fr\u00e9bourg T, Tosi M (2010) Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants. Methods Mol Biol 653:249\u2013257","journal-title":"Methods Mol Biol"},{"key":"3565_CR19","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1093\/ndt\/12.6.1238","volume":"12","author":"M Kagawa","year":"1997","unstructured":"Kagawa M, Kishiro Y, Naito I, Nemoto T, Nakanishi H, Ninomiya Y, Sado Y (1997) Epitope-defined monoclonal antibodies against type-IV collagen for diagnosis of Alport\u2019s syndrome. Nephrol Dial Transplant 12:1238\u20131241","journal-title":"Nephrol Dial Transplant"},{"key":"3565_CR20","doi-asserted-by":"publisher","first-page":"28532","DOI":"10.1074\/jbc.M103690200","volume":"276","author":"DB Borza","year":"2001","unstructured":"Borza DB, Bondar O, Ninomiya Y, Sado Y, Naito I, Todd P, Hudson BG (2001) The NC1 domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes. J Biol Chem 276:28532\u201328540","journal-title":"J Biol Chem"},{"key":"3565_CR21","doi-asserted-by":"publisher","first-page":"1958","DOI":"10.2215\/CJN.04140414","volume":"9","author":"K Nozu","year":"2014","unstructured":"Nozu K, Vorechovsky I, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, Hashimoto F, Kamei K, Ito S, Kaku Y, Imasawa T, Ushijima K, Shimizu J, Makita Y, Konomoto T, Yoshikawa N, Iijima K (2014) X-linked Alport syndrome caused by splicing mutations in COL4A5. Clin J Am Soc Nephrol 9:1958\u20131964","journal-title":"Clin J Am Soc Nephrol"},{"key":"3565_CR22","doi-asserted-by":"publisher","first-page":"E20","DOI":"10.1136\/jmg.38.6.e20","volume":"38","author":"K King","year":"2001","unstructured":"King K, Flinter FA, Green PM (2001) Hair roots as the ideal source of mRNA for genetic testing. J Med Genet 38:E20","journal-title":"J Med Genet"},{"key":"3565_CR23","doi-asserted-by":"publisher","unstructured":"Tazon-Vega B, Ars E, Burset M, Santin S, Ruiz P, Fernandez-Llama P, Ballarin J, Torra R (2007) Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. Am J Kidney Dis 50:257.e1\u2013257.e14","DOI":"10.1053\/j.ajkd.2007.05.004"},{"key":"3565_CR24","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.2215\/CJN.00580116","volume":"11","author":"J Savige","year":"2016","unstructured":"Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F (2016) Alport syndrome in women and girls. Clin J Am Soc Nephrol 11:1713\u20131720","journal-title":"Clin J Am Soc Nephrol"},{"key":"3565_CR25","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.1093\/ndt\/17.7.1218","volume":"17","author":"O Gross","year":"2002","unstructured":"Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M (2002) Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 17:1218\u20131227","journal-title":"Nephrol Dial Transplant"},{"key":"3565_CR26","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1679\/aohc.70.255","volume":"70","author":"H Hasegawa","year":"2007","unstructured":"Hasegawa H, Naito I, Nakano K, Momota R, Nishida K, Taguchi T, Sado Y, Ninomiya Y, Ohtsuka A (2007) The distributions of type IV collagen alpha chains in basement membranes of human epidermis and skin appendages. Arch Histol Cytol 70:255\u2013265","journal-title":"Arch Histol Cytol"},{"key":"3565_CR27","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/sj.ki.5002682","volume":"73","author":"A Kuroki","year":"2008","unstructured":"Kuroki A, Ito J, Yokochi A, Kato N, Sugisaki T, Sueki H, Akizawa T (2008) Diagnosing Alport syndrome using electron microscopy of the skin. Kidney Int 73:364\u2013365","journal-title":"Kidney Int"},{"key":"3565_CR28","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1038\/ki.2013.479","volume":"85","author":"Y Hashimura","year":"2014","unstructured":"Hashimura Y, Nozu K, Kaito H, Nakanishi K, Fu XJ, Ohtsubo H, Hashimoto F, Oka M, Ninchoji T, Ishimori S, Morisada N, Matsunoshita N, Kamiyoshi N, Yoshikawa N, Iijima K (2014) Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV alpha5 chain. Kidney Int 85:1208\u20131213","journal-title":"Kidney Int"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-016-3565-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-016-3565-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-016-3565-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T22:58:51Z","timestamp":1658271531000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-016-3565-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,24]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["3565"],"URL":"https:\/\/doi.org\/10.1007\/s00467-016-3565-4","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,24]]}}}