{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T03:30:14Z","timestamp":1791862214577,"version":"4.3.4"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2007,5]]},"DOI":"10.1007\/s00467-006-0391-0","type":"journal-article","created":{"date-parts":[[2007,1,9]],"date-time":"2007-01-09T10:42:47Z","timestamp":1168339367000},"page":"645-651","source":"Crossref","is-referenced-by-count":8,"title":["Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?"],"prefix":"10.1007","volume":"22","author":[{"given":"Ke Wei","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Tonna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan Yan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kesha","family":"Rana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smitha","family":"Padavarat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Savige","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,5,1]]},"reference":[{"key":"391_CR1","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/74166","volume":"24","author":"N Boute","year":"2000","unstructured":"Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349\u2013354","journal-title":"Nat Genet"},{"key":"391_CR2","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1038\/73456","volume":"24","author":"JM Kaplan","year":"2000","unstructured":"Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR (2000) Mutations in ACTN4, encoding alpha-actinin 4, cause familial focal segmental glomerulosclerosis. Nat Genet 24:251\u2013256","journal-title":"Nat Genet"},{"key":"391_CR3","doi-asserted-by":"publisher","first-page":"1298","DOI":"10.1126\/science.1081068","volume":"300","author":"JM Kim","year":"2003","unstructured":"Kim JM, Wu H, Green G, Winkler CA, Kopp JB, Miner JH, Unanue ER, Shaw AS (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 300:1298\u20131300","journal-title":"Science"},{"key":"391_CR4","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1086\/302182","volume":"64","author":"U Lenkkeri","year":"1999","unstructured":"Lenkkeri U, Mannikko M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac CK, Kashtan CE, Holmberg C, Olsen A, Kestila M, Tryggvason K (1999) Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterisation of mutations. Am J Hum Genet 64:51\u201361","journal-title":"Am J Hum Genet"},{"key":"391_CR5","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1126\/science.1106215","volume":"308","author":"MP Winn","year":"2005","unstructured":"Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB (2005) A mutation in TRPC6 causes familial focal segmental glomerulosclerosis. Science 308:1801\u20131804","journal-title":"Science"},{"key":"391_CR6","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1046\/j.1523-1755.2003.00234.x","volume":"64","author":"J Savige","year":"2003","unstructured":"Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY (2003) Thin basement membrane nephropathy (TBMN). Kidney Int 64:1169\u20131178","journal-title":"Kidney Int"},{"key":"391_CR7","doi-asserted-by":"publisher","first-page":"1670","DOI":"10.1046\/j.1523-1755.2001.0590051670.x","volume":"59","author":"M Buzza","year":"2001","unstructured":"Buzza M, Wilson D, Savige JA (2001) Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Kidney Int 59:1670\u20131676","journal-title":"Kidney Int"},{"key":"391_CR8","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1007\/s00467-005-2034-2","volume":"20","author":"K Rana","year":"2005","unstructured":"Rana K, Wang YY, Powell H, Jones C, McCredie D, Buzza M, Udawela M, Savige J (2005) Persistent hematuria in children and the thin basement membrane (TBMN) locus at COL4A3\/COL4A4. Pediatr Nephrol 20:1729\u20131737","journal-title":"Pediatr Nephrol"},{"key":"391_CR9","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1016\/j.semnephrol.2005.01.008","volume":"25","author":"K Rana","year":"2005","unstructured":"Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J (2005) The genetics of thin basement membrane nephropathy. Semin Nephrol 25:163\u2013170","journal-title":"Semin Nephrol"},{"key":"391_CR10","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1083\/jcb.144.1.151","volume":"144","author":"N Smyth","year":"1999","unstructured":"Smyth N, Vatansever HS, Murray P, Meyer M, Frie C, Paulsson M, Edgar D (1999) Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation. J Cell Biol 144:151\u2013160","journal-title":"J Cell Biol"},{"key":"391_CR11","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1007\/BF00433075","volume":"364","author":"HJ Rumpelt","year":"1974","unstructured":"Rumpelt HJ, Langer KH, Scharer K, Straub E, Thoenes W (1974) Split and extremely thin glomerular basement membranes in hereditary nephropathy (Alport\u2019s syndrome). Virchow Arch 364:225\u2013233","journal-title":"Virchow Arch"},{"key":"391_CR12","first-page":"227A","volume":"16","author":"MB Shannon","year":"2005","unstructured":"Shannon MB, Gould DB, John SW, Miner JH (2005) COL4A1 mutation causes microalbuminuria and thin glomerular basement disease. J Am Soc Nephrol 16:227A","journal-title":"J Am Soc Nephrol"},{"key":"391_CR13","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1126\/science.1109418","volume":"308","author":"D Gould","year":"2005","unstructured":"Gould D, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW (2005) Mutations in COL4A1 cause perinatal cerebral hemorrhage and porencephaly. Science 308:1167\u20131170","journal-title":"Science"},{"key":"391_CR14","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1136\/jmg.2005.035584","volume":"43","author":"G Breedveld","year":"2006","unstructured":"Breedveld G, de Coo RF, Lequin MH, Arts WFM, Heutink P, Gould DB, John SWM, Oostra B, Mancini GMS (2006) Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 43:490\u2013495","journal-title":"J Med Genet"},{"key":"391_CR15","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1038\/ki.1982.16","volume":"21","author":"KF Fairley","year":"1982","unstructured":"Fairley KF, Birch DF (1982) Hematuria: a simple method for identifying glomerular bleeding. Kidney Int 21:105\u2013108","journal-title":"Kidney Int"},{"key":"391_CR16","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","volume":"5","author":"M Orita","year":"1989","unstructured":"Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874\u2013879","journal-title":"Genomics"},{"key":"391_CR17","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1046\/j.1523-1755.2003.00780.x","volume":"63","author":"M Buzza","year":"2003","unstructured":"Buzza M, Dagher H, Wang YY, Wilson D, Babob JJ, Cotton RG, Savige J (2003) Mutations in the COL4A4 gene in Thin basement membrane disease (TBMD). Kidney Int 63:447\u2013453","journal-title":"Kidney Int"},{"key":"391_CR18","first-page":"151","volume":"32","author":"I Aarons","year":"1989","unstructured":"Aarons I, Smith PS, Davies RA, Woodroffe AJ, Clarkson AR (1989) Thin membrane nephropathy: a clinicopathologic study. Clin Nephrol 32:151\u2013158","journal-title":"Clin Nephrol"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-006-0391-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00467-006-0391-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-006-0391-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-006-0391-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T07:17:22Z","timestamp":1575962242000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00467-006-0391-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["391"],"URL":"https:\/\/doi.org\/10.1007\/s00467-006-0391-0","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5]]}}}