{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T08:17:54Z","timestamp":1777018674737,"version":"3.51.4"},"reference-count":42,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[1998,3,1]],"date-time":"1998-03-01T00:00:00Z","timestamp":888710400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,17]],"date-time":"2013-07-17T00:00:00Z","timestamp":1374019200000},"content-version":"vor","delay-in-days":5617,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Cell"],"published-print":{"date-parts":[[1998,3]]},"DOI":"10.1016\/s1097-2765(00)80057-x","type":"journal-article","created":{"date-parts":[[2004,5,4]],"date-time":"2004-05-04T12:29:33Z","timestamp":1083673773000},"page":"575-582","source":"Crossref","is-referenced-by-count":1467,"title":["Positionally Cloned Gene for a Novel Glomerular Protein\u2014Nephrin\u2014Is Mutated in Congenital Nephrotic Syndrome"],"prefix":"10.1016","volume":"1","author":[{"given":"Marjo","family":"Kestil\u00e4","sequence":"first","affiliation":[]},{"given":"Ulla","family":"Lenkkeri","sequence":"additional","affiliation":[]},{"given":"Minna","family":"M\u00e4nnikk\u00f6","sequence":"additional","affiliation":[]},{"given":"Jane","family":"Lamerdin","sequence":"additional","affiliation":[]},{"given":"Paula","family":"McCready","sequence":"additional","affiliation":[]},{"given":"Heli","family":"Putaala","sequence":"additional","affiliation":[]},{"given":"Vesa","family":"Ruotsalainen","sequence":"additional","affiliation":[]},{"given":"Takako","family":"Morita","sequence":"additional","affiliation":[]},{"given":"Marja","family":"Nissinen","sequence":"additional","affiliation":[]},{"given":"Riitta","family":"Herva","sequence":"additional","affiliation":[]},{"given":"Clifford E","family":"Kashtan","sequence":"additional","affiliation":[]},{"given":"Leena","family":"Peltonen","sequence":"additional","affiliation":[]},{"given":"Christer","family":"Holmberg","sequence":"additional","affiliation":[]},{"given":"Anne","family":"Olsen","sequence":"additional","affiliation":[]},{"given":"Karl","family":"Tryggvason","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1016\/S1097-2765(00)80057-X_BIB1","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0022-2836(05)80360-2","article-title":"Basic local alignment search tool","volume":"215","author":"Altschul","year":"1990","journal-title":"J. Mol. Biol"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB2","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/0968-0004(94)90153-8","article-title":"A new generation of information retrieval tools for biologists","volume":"19","author":"Appel","year":"1994","journal-title":"Trends Biochem. Sci"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB3","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.2349482","article-title":"Identification of mutations in the COL4A5 collagen gene in Alport syndrome","volume":"248","author":"Barker","year":"1990","journal-title":"Science"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB4","first-page":"951","article-title":"Cell adhesion molecules 1","volume":"1","author":"Br\u00fcmmendott","year":"1994","journal-title":"Prot. Profile"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB5","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1006\/jmbi.1997.0951","article-title":"Prediction of complete gene structures in human genomic DNA","volume":"268","author":"Burge","year":"1997","journal-title":"J. Mol. Biol"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB6","first-page":"505","article-title":"Loss of anionic sites from the glomerular basement membrane in aminonucleoside nephrosis","volume":"39","author":"Caulfield","year":"1978","journal-title":"Lab. Invest"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB7","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1136\/jmg.30.10.857","article-title":"Disease gene mapping in isolated human populations","volume":"30","author":"de la Chapelle","year":"1993","journal-title":"J. Med. Genet"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB8","doi-asserted-by":"crossref","first-page":"2875","DOI":"10.1002\/j.1460-2075.1987.tb02590.x","article-title":"Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents","volume":"6","author":"Fahrig","year":"1987","journal-title":"EMBO J"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB9","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/BF00862052","article-title":"Congenital nephrotic syndrome of the Finnish type","volume":"10","author":"Fuchshuber","year":"1996","journal-title":"Pediatr. Nephrol"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB10","unstructured":"Genetics Computer Group. (1996). Program manual for the Wisconsin Package, Version 9 (Madison, WI)."},{"key":"10.1016\/S1097-2765(00)80057-X_BIB11","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/0092-8674(94)90281-X","article-title":"The diastrophic dysplasia gene encodes a novel sulfate transporter","volume":"78","author":"H\u00e4stbacka","year":"1994","journal-title":"Cell"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB12","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1038\/ng1196-316","article-title":"Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhea","volume":"14","author":"H\u00f6glund","year":"1996","journal-title":"Nat. Genet"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB13","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/BF00858984","article-title":"Management of congenital nephrotic syndrome of the Finnish type","volume":"9","author":"Holmberg","year":"1995","journal-title":"Pediatr. Nephrol"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB14","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1136\/adc.51.5.344","article-title":"Congenital nephrotic syndrome of the Finnish type","volume":"51","author":"Huttunen","year":"1976","journal-title":"Arch. Dis. Child"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB15","first-page":"10","article-title":"Renal pathology in congenital nephrotic syndrome of the Finnish type","volume":"1","author":"Huttunen","year":"1980","journal-title":"Int. J. Pediatr. Nephr"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB16","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/j.1460-2075.1991.tb07920.x","article-title":"Aspartylglucosaminuria","volume":"10","author":"Ikonen","year":"1991","journal-title":"EMBO J"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB17","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0097-8485(96)80013-1","article-title":"CENSOR\u2014a program for identification and elimination of repetitive elements from DNA sequences","volume":"20","author":"Jurka","year":"1996","journal-title":"Comput. Chem"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB18","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1073\/pnas.76.3.1303","article-title":"Presence of heparan sulfate in the glomerular basement membrane","volume":"76","author":"Kanwar","year":"1979","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB19","doi-asserted-by":"crossref","unstructured":"Kasinath, B.S., and Kanwar, Y.S. (1993). Glomerular basement membrane: biology and physiology. In Molecular and Cellular Aspects of Basement Membranes, D. Rorhbach and R. Timpl, eds. (San Diego: Academic Press), pp. 89\u2013106.","DOI":"10.1016\/B978-0-12-593165-6.50011-5"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB20","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1038\/ki.1996.113","article-title":"The COL4A5 gene in Japanese Alport syndrome patients","volume":"49","author":"Kawai","year":"1996","journal-title":"Kidney Int"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB21","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0092-8674(00)81336-7","article-title":"Deleted in Colorectal Cancer (DCC) encodes a netrin receptor","volume":"87","author":"Keino-Masu","year":"1996","journal-title":"Cell"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB22","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1038\/ki.1994.133","article-title":"Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type","volume":"45","author":"Kestil\u00e4","year":"1994","journal-title":"Kidney Int"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB23","first-page":"757","article-title":"Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19","volume":"54","author":"Kestil\u00e4","year":"1994","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB24","first-page":"1221","article-title":"Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome","volume":"59","author":"Knebelmann","year":"1996","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB25","doi-asserted-by":"crossref","unstructured":"Koskimies, O. (1990). Genetics of congenital and early infantile nephrotic syndromes. In Inheritance of Kidney and Urinary Tract Diseases, A. Spitzer, and E.D. Avner, eds. (Boston: Kluwer Academic Publishers), pp. 131\u2013138.","DOI":"10.1007\/978-1-4613-1603-9_7"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB26","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1038\/ki.1993.324","article-title":"Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type","volume":"44","author":"Laine","year":"1993","journal-title":"Kidney Int"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB27","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1007\/s004390050676","article-title":"Structure of the human amyloid precursor like protein gene APLP1 at 19q13.1","volume":"102","author":"Lenkkeri","year":"1998","journal-title":"Hum. Genet"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB28","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1007\/BF00157874","article-title":"Congenital nephrosis of the Finnish type (NPHS1)","volume":"25","author":"Ljungberg","year":"1993","journal-title":"Histochem. J"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB29","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/S0022-3476(84)80418-7","article-title":"Congenital nephrotic syndrome","volume":"105","author":"Mahan","year":"1984","journal-title":"J. Pediatr"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB30","first-page":"1377","article-title":"Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1","volume":"57","author":"M\u00e4nnikk\u00f6","year":"1995","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB31","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1038\/ki.1997.122","article-title":"Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis","volume":"51","author":"M\u00e4nnikk\u00f6","year":"1997","journal-title":"Kidney Int"},{"issue":"Suppl. 27","key":"10.1016\/S1097-2765(00)80057-X_BIB32","first-page":"1","article-title":"Heredity on the congenital nephrotic syndrome","volume":"12","author":"Norio","year":"1966","journal-title":"Ann. Paediatr. Fenn"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB33","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1006\/geno.1996.0270","article-title":"Assembly of a 1-Mb restriction-mapped cosmid contig spanning the candidate region for Finnish congenital nephrosis (NPHS1) in 19q13.1","volume":"34","author":"Olsen","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB34","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/0896-6273(93)90243-K","article-title":"The F3\/11 cell adhesion molecule mediates the repulsion of neurons by the extracellular matrix glycoprotein J1\u2013160\/180","volume":"10","author":"Pesheva","year":"1993","journal-title":"Neuron"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB35","unstructured":"Rapola, J., Huttunen, N.P., and Hallman, N. (1992). Congenital and infantile nephrotic syndrome. In Pediatric Kidney Disease, Second Edition, C.M. Edelman, ed. (Boston: Little, Brown and Company), 1291\u20131305."},{"key":"10.1016\/S1097-2765(00)80057-X_BIB36","first-page":"1192","article-title":"X-linked Alport syndrome","volume":"58","author":"Renieri","year":"1996","journal-title":"Am. J. Hum. Genet"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB37","doi-asserted-by":"crossref","first-page":"5156","DOI":"10.1093\/nar\/22.24.5156","article-title":"Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames","volume":"22","author":"Solovyev","year":"1994","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB38","unstructured":"Tryggvason, K. (1996). Mutations in type IV collagen genes in Alport syndrome. In Molecular Pathology and Genetics of Alport Syndrome, ed. K. Tryggvason (Basel: Karger)."},{"key":"10.1016\/S1097-2765(00)80057-X_BIB39","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1159\/000180493","article-title":"Number of nephrons in normal human kidneys and kidneys of patients with the congenital nephrotic syndrome","volume":"15","author":"Tryggvason","year":"1975","journal-title":"Nephron"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB40","doi-asserted-by":"crossref","first-page":"11261","DOI":"10.1073\/pnas.88.24.11261","article-title":"Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach","volume":"88","author":"Uberbacher","year":"1991","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB41","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/376584a0","article-title":"Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis","volume":"376","author":"Vesa","year":"1995","journal-title":"Nature"},{"key":"10.1016\/S1097-2765(00)80057-X_BIB42","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1083\/jcb.119.1.203","article-title":"Neuronal cell adhesion molecule contactin\/F11 binds to tenascin via its immunoglobulin-like domains","volume":"119","author":"Zisch","year":"1992","journal-title":"J. Cell Biol"}],"container-title":["Molecular Cell"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109727650080057X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109727650080057X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T01:50:36Z","timestamp":1585792236000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S109727650080057X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,3]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1998,3]]}},"alternative-id":["S109727650080057X"],"URL":"https:\/\/doi.org\/10.1016\/s1097-2765(00)80057-x","relation":{},"ISSN":["1097-2765"],"issn-type":[{"value":"1097-2765","type":"print"}],"subject":[],"published":{"date-parts":[[1998,3]]}}}