{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T19:37:11Z","timestamp":1772134631211,"version":"3.50.1"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2006,11,5]],"date-time":"2006-11-05T00:00:00Z","timestamp":1162684800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2006,12]]},"DOI":"10.1038\/ng1918","type":"journal-article","created":{"date-parts":[[2006,11,5]],"date-time":"2006-11-05T14:03:33Z","timestamp":1162735413000},"page":"1397-1405","source":"Crossref","is-referenced-by-count":470,"title":["Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible"],"prefix":"10.1038","volume":"38","author":[{"given":"Bernward","family":"Hinkes","sequence":"first","affiliation":[]},{"given":"Roger C","family":"Wiggins","sequence":"additional","affiliation":[]},{"given":"Rasheed","family":"Gbadegesin","sequence":"additional","affiliation":[]},{"given":"Christopher N","family":"Vlangos","sequence":"additional","affiliation":[]},{"given":"Dominik","family":"Seelow","sequence":"additional","affiliation":[]},{"given":"Gudrun","family":"N\u00fcrnberg","sequence":"additional","affiliation":[]},{"given":"Puneet","family":"Garg","sequence":"additional","affiliation":[]},{"given":"Rakesh","family":"Verma","sequence":"additional","affiliation":[]},{"given":"Hassan","family":"Chaib","sequence":"additional","affiliation":[]},{"given":"Bethan E","family":"Hoskins","sequence":"additional","affiliation":[]},{"given":"Shazia","family":"Ashraf","sequence":"additional","affiliation":[]},{"given":"Christian","family":"Becker","sequence":"additional","affiliation":[]},{"given":"Hans Christian","family":"Hennies","sequence":"additional","affiliation":[]},{"given":"Meera","family":"Goyal","sequence":"additional","affiliation":[]},{"given":"Bryan L","family":"Wharram","sequence":"additional","affiliation":[]},{"given":"Asher D","family":"Schachter","sequence":"additional","affiliation":[]},{"given":"Sudha","family":"Mudumana","sequence":"additional","affiliation":[]},{"given":"Iain","family":"Drummond","sequence":"additional","affiliation":[]},{"given":"Dontscho","family":"Kerjaschki","sequence":"additional","affiliation":[]},{"given":"R\u00fcdiger","family":"Waldherr","sequence":"additional","affiliation":[]},{"given":"Alexander","family":"Dietrich","sequence":"additional","affiliation":[]},{"given":"Fatih","family":"Ozaltin","sequence":"additional","affiliation":[]},{"given":"Aysin","family":"Bakkaloglu","sequence":"additional","affiliation":[]},{"given":"Roxana","family":"Cleper","sequence":"additional","affiliation":[]},{"given":"Lina","family":"Basel-Vanagaite","sequence":"additional","affiliation":[]},{"given":"Martin","family":"Pohl","sequence":"additional","affiliation":[]},{"given":"Martin","family":"Griebel","sequence":"additional","affiliation":[]},{"given":"Alexey N","family":"Tsygin","sequence":"additional","affiliation":[]},{"given":"Alper","family":"Soylu","sequence":"additional","affiliation":[]},{"given":"Dominik","family":"M\u00fcller","sequence":"additional","affiliation":[]},{"given":"Caroline S","family":"Sorli","sequence":"additional","affiliation":[]},{"given":"Tom D","family":"Bunney","sequence":"additional","affiliation":[]},{"given":"Matilda","family":"Katan","sequence":"additional","affiliation":[]},{"given":"Jinhong","family":"Liu","sequence":"additional","affiliation":[]},{"given":"Massimo","family":"Attanasio","sequence":"additional","affiliation":[]},{"given":"John F","family":"O'Toole","sequence":"additional","affiliation":[]},{"given":"Katrin","family":"Hasselbacher","sequence":"additional","affiliation":[]},{"given":"Bettina","family":"Mucha","sequence":"additional","affiliation":[]},{"given":"Edgar A","family":"Otto","sequence":"additional","affiliation":[]},{"given":"Rannar","family":"Airik","sequence":"additional","affiliation":[]},{"given":"Andreas","family":"Kispert","sequence":"additional","affiliation":[]},{"given":"Grant G","family":"Kelley","sequence":"additional","affiliation":[]},{"given":"Alan V","family":"Smrcka","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"Gudermann","sequence":"additional","affiliation":[]},{"given":"Lawrence B","family":"Holzman","sequence":"additional","affiliation":[]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2006,11,5]]},"reference":[{"key":"BFng1918_CR1","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","volume":"1","author":"M Kestila","year":"1998","unstructured":"Kestila, M. et al. Positionally cloned gene for a novel glomerular protein\u2013nephrin\u2013is mutated in congenital nephrotic syndrome. Mol. Cell 1, 575\u2013582 (1998).","journal-title":"Mol. Cell"},{"key":"BFng1918_CR2","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/74166","volume":"24","author":"N Boute","year":"2000","unstructured":"Boute, N. et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 24, 349\u2013354 (2000).","journal-title":"Nat. Genet."},{"key":"BFng1918_CR3","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1038\/sj.ki.5001679","volume":"70","author":"K Hasselbacher","year":"2006","unstructured":"Hasselbacher, K. et al. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 70, 1008\u20131012 (2006).","journal-title":"Kidney Int."},{"key":"BFng1918_CR4","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1203\/01.pdr.0000196717.94518.f0","volume":"59","author":"B Mucha","year":"2006","unstructured":"Mucha, B. et al. Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr. Res. 59, 325\u2013331 (2006).","journal-title":"Pediatr. Res."},{"key":"BFng1918_CR5","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1038\/73456","volume":"24","author":"JM Kaplan","year":"2000","unstructured":"Kaplan, J.M. et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 24, 251\u2013256 (2000).","journal-title":"Nat. Genet."},{"key":"BFng1918_CR6","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1126\/science.1106215","volume":"308","author":"MP Winn","year":"2005","unstructured":"Winn, M.P. et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308, 1801\u20131804 (2005).","journal-title":"Science"},{"key":"BFng1918_CR7","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1038\/ng1592","volume":"37","author":"J Reiser","year":"2005","unstructured":"Reiser, J. et al. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat. Genet. 37, 739\u2013744 (2005).","journal-title":"Nat. Genet."},{"key":"BFng1918_CR8","doi-asserted-by":"publisher","first-page":"2941","DOI":"10.1681\/ASN.2005010055","volume":"16","author":"BL Wharram","year":"2005","unstructured":"Wharram, B.L. et al. Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene. J. Am. Soc. Nephrol. 16, 2941\u20132952 (2005).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFng1918_CR9","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1002\/jemt.10072","volume":"57","author":"W Kriz","year":"2002","unstructured":"Kriz, W. Podocyte is the major culprit accounting for the progression of chronic renal disease. Microsc. Res. Tech. 57, 189\u2013195 (2002).","journal-title":"Microsc. Res. Tech."},{"key":"BFng1918_CR10","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1038\/74139","volume":"24","author":"S Somlo","year":"2000","unstructured":"Somlo, S. & Mundel, P. Getting a foothold in nephrotic syndrome. Nat. Genet. 24, 333\u2013335 (2000).","journal-title":"Nat. Genet."},{"key":"BFng1918_CR11","doi-asserted-by":"publisher","first-page":"1567","DOI":"10.1126\/science.2884728","volume":"236","author":"ES Lander","year":"1987","unstructured":"Lander, E.S. & Botstein, D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236, 1567\u20131570 (1987).","journal-title":"Science"},{"issue":"Suppl.","key":"BFng1918_CR12","first-page":"25","volume":"25","author":"C Antignac","year":"2005","unstructured":"Antignac, C. Molecular basis of steroid-resistant nephrotic syndrome. Nefrologia 25 (Suppl.), 25\u201328 (2005).","journal-title":"Nefrologia"},{"key":"BFng1918_CR13","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1159\/000074597","volume":"141","author":"RF Ransom","year":"2004","unstructured":"Ransom, R.F. Podocyte proteomics. Contrib. Nephrol. 141, 189\u2013211 (2004).","journal-title":"Contrib. Nephrol."},{"key":"BFng1918_CR14","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1124\/mi.3.5.273","volume":"3","author":"MR Wing","year":"2003","unstructured":"Wing, M.R., Bourdon, D.M. & Harden, T.K. PLC-epsilon: a shared effector protein in Ras-, Rho-, and G alpha beta gamma-mediated signaling. Mol. Interv. 3, 273\u2013280 (2003).","journal-title":"Mol. Interv."},{"key":"BFng1918_CR15","volume-title":"Pediatric Nephrology","author":"C Holmberg","year":"2004","unstructured":"Holmberg, C., Tryggvason, K., Kestila, M. & Jalanko, H. Congenital nephrotic syndrome. in Pediatric Nephrology (eds. Avner, E., Harmon, W.E. & Niaudet, P.) (Lippincott Williams & Wilkins, Philadelphia, 2004)."},{"key":"BFng1918_CR16","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1097\/01.ASN.0000113552.59155.72","volume":"15","author":"RG Ruf","year":"2004","unstructured":"Ruf, R.G. et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J. Am. Soc. Nephrol. 15, 722\u2013732 (2004).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFng1918_CR17","first-page":"269","volume":"24","author":"R Habib","year":"1985","unstructured":"Habib, R. et al. The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion\u2013report of 10 cases. Clin. Nephrol. 24, 269\u2013278 (1985).","journal-title":"Clin. Nephrol."},{"key":"BFng1918_CR18","first-page":"43","volume":"22","author":"R Habib","year":"1993","unstructured":"Habib, R., Gubler, M.C., Antignac, C. & Gagnadoux, M.F. Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome. Adv. Nephrol. Necker Hosp. 22, 43\u201357 (1993).","journal-title":"Adv. Nephrol. Necker Hosp."},{"key":"BFng1918_CR19","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1007\/BF00857534","volume":"7","author":"R Habib","year":"1993","unstructured":"Habib, R. Nephrotic syndrome in the 1st year of life. Pediatr. Nephrol. 7, 347\u2013353 (1993).","journal-title":"Pediatr. Nephrol."},{"key":"BFng1918_CR20","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1093\/emboj\/20.4.743","volume":"20","author":"GG Kelley","year":"2001","unstructured":"Kelley, G.G., Reks, S.E., Ondrako, J.M. & Smrcka, A.V. Phospholipase C(epsilon): a novel Ras effector. EMBO J. 20, 743\u2013754 (2001).","journal-title":"EMBO J."},{"key":"BFng1918_CR21","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/sj.onc.1208168","volume":"24","author":"SC Sorli","year":"2005","unstructured":"Sorli, S.C., Bunney, T.D., Sugden, P.H., Paterson, H.F. & Katan, M. Signaling properties and expression in normal and tumor tissues of two phospholipase C epsilon splice variants. Oncogene 24, 90\u2013100 (2005).","journal-title":"Oncogene"},{"key":"BFng1918_CR22","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1056\/NEJMra052131","volume":"354","author":"K Tryggvason","year":"2006","unstructured":"Tryggvason, K., Patrakka, J. & Wartiovaara, J. Hereditary proteinuria syndromes and mechanisms of proteinuria. N. Engl. J. Med. 354, 1387\u20131401 (2006).","journal-title":"N. Engl. J. Med."},{"key":"BFng1918_CR23","doi-asserted-by":"publisher","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","volume":"13","author":"M Zenker","year":"2004","unstructured":"Zenker, M. et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum. Mol. Genet. 13, 2625\u20132632 (2004).","journal-title":"Hum. Mol. Genet."},{"key":"BFng1918_CR24","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1038\/ng1297-467","volume":"17","author":"S Barbaux","year":"1997","unstructured":"Barbaux, S. et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat. Genet. 17, 467\u2013470 (1997).","journal-title":"Nat. Genet."},{"key":"BFng1918_CR25","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/S0002-9440(10)65264-9","volume":"154","author":"Y Yang","year":"1999","unstructured":"Yang, Y. et al. WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis. Am. J. Pathol. 154, 181\u2013192 (1999).","journal-title":"Am. J. Pathol."},{"key":"BFng1918_CR26","first-page":"313","volume":"48","author":"E Schnabel","year":"1989","unstructured":"Schnabel, E., Dekan, G., Miettinen, A. & Farquhar, M.G. Biogenesis of podocalyxin\u2013the major glomerular sialoglycoprotein\u2013in the newborn rat kidney. Eur. J. Cell Biol. 48, 313\u2013326 (1989).","journal-title":"Eur. J. Cell Biol."},{"key":"BFng1918_CR27","doi-asserted-by":"publisher","first-page":"9814","DOI":"10.1073\/pnas.0504166102","volume":"102","author":"S Lehtonen","year":"2005","unstructured":"Lehtonen, S. et al. Cell junction-associated proteins IQGAP1, MAGI-2, CASK, spectrins, and alpha-actinin are components of the nephrin multiprotein complex. Proc. Natl. Acad. Sci. USA 102, 9814\u20139819 (2005).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng1918_CR28","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1111\/j.1432-1033.2004.04408.x","volume":"272","author":"XL Liu","year":"2005","unstructured":"Liu, X.L. et al. Characterization of the interactions of the nephrin intracellular domain. FEBS J. 272, 228\u2013243 (2005).","journal-title":"FEBS J."},{"key":"BFng1918_CR29","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.tcb.2006.03.002","volume":"16","author":"MD Brown","year":"2006","unstructured":"Brown, M.D. & Sacks, D.B. IQGAP1 in cellular signaling: bridging the GAP. Trends Cell Biol. 16, 242\u2013249 (2006).","journal-title":"Trends Cell Biol."},{"key":"BFng1918_CR30","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/j.ydbio.2005.06.038","volume":"285","author":"AG Kramer-Zucker","year":"2005","unstructured":"Kramer-Zucker, A.G., Wiessner, S., Jensen, A.M. & Drummond, I.A. Organization of the pronephric filtration apparatus in zebrafish requires Nephrin, Podocin and the FERM domain protein Mosaic eyes. Dev. Biol. 285, 316\u2013329 (2005).","journal-title":"Dev. Biol."},{"key":"BFng1918_CR31","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1161\/01.RES.0000196578.15385.bb","volume":"97","author":"H Wang","year":"2005","unstructured":"Wang, H. et al. Phospholipase C epsilon modulates beta-adrenergic receptor-dependent cardiac contraction and inhibits cardiac hypertrophy. Circ. Res. 97, 1305\u20131313 (2005).","journal-title":"Circ. Res."},{"key":"BFng1918_CR32","doi-asserted-by":"crossref","unstructured":"Arbeitsgemeinschaft fur Padiatrische Nephrologie. Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Lancet 1, 380\u2013383 (1988).","DOI":"10.1016\/S0140-6736(88)91182-8"},{"key":"BFng1918_CR33","doi-asserted-by":"crossref","unstructured":"ISKDC. Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity: a report of the International Study of Kidney Disease in Children. Kidney Int. 20, 765\u2013771 (1981).","DOI":"10.1038\/ki.1981.209"},{"key":"BFng1918_CR34","first-page":"A2624","volume":"73","author":"K Strauch","year":"2003","unstructured":"Strauch, K. Parametric linkage analysis with automatic optimization of the disease model parameters. Am. J. Hum. Genet. 73, A2624 (2003).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng1918_CR35","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1006\/geno.1994.1109","volume":"19","author":"M Kestila","year":"1994","unstructured":"Kestila, M., Mannikko, M., Holmberg, C., Tryggvason, K. & Peltonen, L. Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model. Genomics 19, 570\u2013572 (1994).","journal-title":"Genomics"},{"key":"BFng1918_CR36","doi-asserted-by":"publisher","first-page":"2953","DOI":"10.1681\/ASN.2005050488","volume":"16","author":"JE Wiggins","year":"2005","unstructured":"Wiggins, J.E. et al. Podocyte hypertrophy, \u201cadaptation,\u201d and \u201cdecompensation\u201d associated with glomerular enlargement and glomerulosclerosis in the aging rat: prevention by calorie restriction. J. Am. Soc. Nephrol. 16, 2953\u20132966 (2005).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFng1918_CR37","doi-asserted-by":"publisher","first-page":"1346","DOI":"10.1172\/JCI27414","volume":"116","author":"R Verma","year":"2006","unstructured":"Verma, R. et al. Nephrin ectodomain engagement results in Src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization. J. Clin. Invest. 116, 1346\u20131359 (2006).","journal-title":"J. Clin. Invest."},{"key":"BFng1918_CR38","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1046\/j.1523-1755.2001.060003957.x","volume":"60","author":"YH Kim","year":"2001","unstructured":"Kim, Y.H. et al. Podocyte depletion and glomerulosclerosis have a direct relationship in the PAN-treated rat. Kidney Int. 60, 957\u2013968 (2001).","journal-title":"Kidney Int."},{"key":"BFng1918_CR39","doi-asserted-by":"publisher","first-page":"29439","DOI":"10.1074\/jbc.270.49.29439","volume":"270","author":"DB Kershaw","year":"1995","unstructured":"Kershaw, D.B. et al. Molecular cloning, expression, and characterization of podocalyxin-like protein 1 from rabbit as a transmembrane protein of glomerular podocytes and vascular endothelium. J. Biol. Chem. 270, 29439\u201329446 (1995).","journal-title":"J. Biol. Chem."},{"key":"BFng1918_CR40","doi-asserted-by":"publisher","first-page":"1591","DOI":"10.1083\/jcb.98.4.1591","volume":"98","author":"D Kerjaschki","year":"1984","unstructured":"Kerjaschki, D., Sharkey, D.J. & Farquhar, M.G. Identification and characterization of podocalyxin\u2013the major sialoprotein of the renal glomerular epithelial cell. J. Cell. Biol. 98, 1591\u20131596 (1984).","journal-title":"J. Cell. Biol."},{"key":"BFng1918_CR41","volume-title":"The Zebrafish Book","author":"M Westerfield","year":"1994","unstructured":"Westerfield, M. (ed.). The Zebrafish Book (Univ. of Oregon Press, Eugene, Oregon, 1994)."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1918.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1918","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1918.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T18:13:05Z","timestamp":1684433585000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1918"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,5]]},"references-count":41,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["BFng1918"],"URL":"https:\/\/doi.org\/10.1038\/ng1918","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1054795.518942","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1054795.553837","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1054795.506726","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1054795.544675","asserted-by":"object"}]},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,5]]}}}