{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:01:16Z","timestamp":1791133276783,"version":"4.1.0"},"reference-count":67,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Mol Med"],"published-print":{"date-parts":[[2009,9]]},"DOI":"10.1007\/s00109-009-0505-9","type":"journal-article","created":{"date-parts":[[2009,7,31]],"date-time":"2009-07-31T07:12:15Z","timestamp":1249024335000},"page":"849-857","source":"Crossref","is-referenced-by-count":53,"title":["Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier"],"prefix":"10.1007","volume":"87","author":[{"given":"Martin","family":"Zenker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Machuca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,8,1]]},"reference":[{"key":"505_CR1","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1097\/MNH.0b013e3283296044","volume":"18","author":"G Jarad","year":"2009","unstructured":"Jarad G, Miner JH (2009) Update on the glomerular filtration barrier. Curr Opin Nephrol Hypertens 18:226\u2013232","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"505_CR2","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.tcb.2007.06.006","volume":"17","author":"C Faul","year":"2007","unstructured":"Faul C, Asanuma K, Yanagida-Asanuma E, Kim K, Mundel P (2007) Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton. Trends Cell Biol 17:428\u2013437","journal-title":"Trends Cell Biol"},{"key":"505_CR3","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1093\/ndt\/gfm344","volume":"22","author":"H Holthofer","year":"2007","unstructured":"Holthofer H (2007) Molecular architecture of the glomerular slit diaphragm lessons learnt for a better understanding of disease pathogenesis. Nephrol Dial Transplant. 22:2124\u20132128","journal-title":"Nephrol Dial Transplant."},{"key":"505_CR4","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/S0140-6736(03)14184-0","volume":"362","author":"AA Eddy","year":"2003","unstructured":"Eddy AA, Symons JM (2003) Nephrotic syndrome in childhood. Lancet 362:629\u2013639","journal-title":"Lancet"},{"key":"505_CR5","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1172\/JCI0215094","volume":"109","author":"C Antignac","year":"2002","unstructured":"Antignac C (2002) Genetic models: clues for understanding the pathogenesis of idiopathic nephrotic syndrome. J Clin Invest 109:447\u2013449","journal-title":"J Clin Invest"},{"key":"505_CR6","doi-asserted-by":"crossref","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":"505_CR7","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","volume":"1","author":"M Kestila","year":"1998","unstructured":"Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998) Positionally cloned gene for a novel glomerular protein\u2013nephrin\u2013is mutated in congenital nephrotic syndrome. Mol Cell 1:575\u2013582","journal-title":"Mol Cell"},{"key":"505_CR8","doi-asserted-by":"crossref","first-page":"e907","DOI":"10.1542\/peds.2006-2164","volume":"119","author":"BG Hinkes","year":"2007","unstructured":"Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F (2007) Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119:e907\u2013e919","journal-title":"Pediatrics"},{"key":"505_CR9","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1172\/JCI22562","volume":"114","author":"J Wartiovaara","year":"2004","unstructured":"Wartiovaara J, Ofverstedt LG, Khoshnoodi J, Zhang J, Makela E, Sandin S, Ruotsalainen V, Cheng RH, Jalanko H, Skoglund U, Tryggvason K (2004) Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography. J Clin Invest 114:1475\u20131483","journal-title":"J Clin Invest"},{"key":"505_CR10","doi-asserted-by":"crossref","first-page":"3397","DOI":"10.1093\/hmg\/ddg360","volume":"12","author":"TB Huber","year":"2003","unstructured":"Huber TB, Simons M, Hartleben B, Sernetz L, Schmidts M, Gundlach E, Saleem MA, Walz G, Benzing T (2003) Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 12:3397\u20133405","journal-title":"Hum Mol Genet"},{"key":"505_CR11","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.molmed.2007.06.006","volume":"13","author":"J Patrakka","year":"2007","unstructured":"Patrakka J, Tryggvason K (2007) Nephrin\u2014a unique structural and signaling protein of the kidney filter. Trends Mol Med 13:396\u2013403","journal-title":"Trends Mol Med"},{"key":"505_CR12","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1097\/01.mnh.0000165885.85803.a8","volume":"14","author":"TB Huber","year":"2005","unstructured":"Huber TB, Benzing T (2005) The slit diaphragm: a signaling platform to regulate podocyte function. Curr Opin Nephrol Hypertens 14:211\u2013216","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"505_CR13","doi-asserted-by":"crossref","first-page":"8698","DOI":"10.1128\/MCB.00948-07","volume":"27","author":"P Garg","year":"2007","unstructured":"Garg P, Verma R, Nihalani D, Johnstone DB, Holzman LB (2007) Neph1 cooperates with nephrin to transduce a signal that induces actin polymerization. Mol Cell Biol 27:8698\u20138712","journal-title":"Mol Cell Biol"},{"key":"505_CR14","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1038\/nature04662","volume":"440","author":"N Jones","year":"2006","unstructured":"Jones N, Blasutig IM, Eremina V, Ruston JM, Bladt F, Li H, Huang H, Larose L, Li SS, Takano T, Quaggin SE, Pawson T (2006) Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes. Nature 440:818\u2013823","journal-title":"Nature"},{"key":"505_CR15","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1172\/JCI27414","volume":"116","author":"R Verma","year":"2006","unstructured":"Verma R, Kovari I, Soofi A, Nihalani D, Patrie K, Holzman LB (2006) Nephrin ectodomain engagement results in Src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization. J Clin Invest 116:1346\u20131359","journal-title":"J Clin Invest"},{"key":"505_CR16","doi-asserted-by":"crossref","first-page":"4917","DOI":"10.1128\/MCB.23.14.4917-4928.2003","volume":"23","author":"TB Huber","year":"2003","unstructured":"Huber TB, Hartleben B, Kim J, Schmidts M, Schermer B, Keil A, Egger L, Lecha RL, Borner C, Pavenstadt H, Shaw AS, Walz G, Benzing T (2003) Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling. Mol Cell Biol 23:4917\u20134928","journal-title":"Mol Cell Biol"},{"key":"505_CR17","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1038\/sj.ki.5002691","volume":"73","author":"J Zhu","year":"2008","unstructured":"Zhu J, Sun N, Aoudjit L, Li H, Kawachi H, Lemay S, Takano T (2008) Nephrin mediates actin reorganization via phosphoinositide 3-kinase in podocytes. Kidney Int 73:556\u2013566","journal-title":"Kidney Int"},{"key":"505_CR18","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1172\/JCI200523371","volume":"115","author":"K Asanuma","year":"2005","unstructured":"Asanuma K, Kim K, Oh J, Giardino L, Chabanis S, Faul C, Reiser J, Mundel P (2005) Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner. J Clin Invest 115:1188\u20131198","journal-title":"J Clin Invest"},{"key":"505_CR19","doi-asserted-by":"crossref","first-page":"8951","DOI":"10.1074\/jbc.M806851200","volume":"284","author":"Y Harita","year":"2009","unstructured":"Harita Y, Kurihara H, Kosako H, Tezuka T, Sekine T, Igarashi T, Ohsawa I, Ohta S, Hattori S (2009) Phosphorylation of nephrin triggers Ca2+ signaling by recruitment and activation of phospholipase C-{gamma}1. J Biol Chem 284:8951\u20138962","journal-title":"J Biol Chem"},{"key":"505_CR20","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1432-1033.2004.04408.x","volume":"272","author":"XL Liu","year":"2005","unstructured":"Liu XL, Kilpelainen P, Hellman U, Sun Y, Wartiovaara J, Morgunova E, Pikkarainen T, Yan K, Jonsson AP, Tryggvason K (2005) Characterization of the interactions of the nephrin intracellular domain. FEBS J 272:228\u2013243","journal-title":"FEBS J"},{"key":"505_CR21","doi-asserted-by":"crossref","first-page":"23033","DOI":"10.1074\/jbc.M803143200","volume":"283","author":"B Hartleben","year":"2008","unstructured":"Hartleben B, Schweizer H, Lubben P, Bartram MP, Moller CC, Herr R, Wei C, Neumann-Haefelin E, Schermer B, Zentgraf H, Kerjaschki D, Reiser J, Walz G, Benzing T, Huber TB (2008) Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity. J Biol Chem 283:23033\u201323038","journal-title":"J Biol Chem"},{"key":"505_CR22","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1681\/ASN.2008080871","volume":"20","author":"TB Huber","year":"2009","unstructured":"Huber TB, Hartleben B, Winkelmann K, Schneider L, Becker JU, Leitges M, Walz G, Haller H, Schiffer M (2009) Loss of podocyte aPKClambda\/iota causes polarity defects and nephrotic syndrome. J Am Soc Nephrol 20:798\u2013806","journal-title":"J Am Soc Nephrol"},{"key":"505_CR23","doi-asserted-by":"crossref","first-page":"2525","DOI":"10.1681\/ASN.2006101084","volume":"18","author":"A Shono","year":"2007","unstructured":"Shono A, Tsukaguchi H, Yaoita E, Nameta M, Kurihara H, Qin XS, Yamamoto T, Doi T (2007) Podocin participates in the assembly of tight junctions between foot processes in nephrotic podocytes. J Am Soc Nephrol 18:2525\u20132533","journal-title":"J Am Soc Nephrol"},{"key":"505_CR24","doi-asserted-by":"crossref","first-page":"e27","DOI":"10.1159\/000101789","volume":"106","author":"TB Huber","year":"2007","unstructured":"Huber TB, Schermer B, Benzing T (2007) Podocin organizes ion channel-lipid supercomplexes: implications for mechanosensation at the slit diaphragm. Nephron Exp Nephrol 106:e27\u2013e31","journal-title":"Nephron Exp Nephrol"},{"key":"505_CR25","doi-asserted-by":"crossref","first-page":"41543","DOI":"10.1074\/jbc.C100452200","volume":"276","author":"TB Huber","year":"2001","unstructured":"Huber TB, Kottgen M, Schilling B, Walz G, Benzing T (2001) Interaction with podocin facilitates nephrin signaling. J Biol Chem 276:41543\u201341546","journal-title":"J Biol Chem"},{"key":"505_CR26","doi-asserted-by":"crossref","first-page":"3006","DOI":"10.1097\/01.ASN.0000146689.88078.80","volume":"15","author":"H Li","year":"2004","unstructured":"Li H, Lemay S, Aoudjit L, Kawachi H, Takano T (2004) SRC-family kinase Fyn phosphorylates the cytoplasmic domain of nephrin and modulates its interaction with podocin. J Am Soc Nephrol 15:3006\u20133015","journal-title":"J Am Soc Nephrol"},{"key":"505_CR27","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/ng1592","volume":"37","author":"J Reiser","year":"2005","unstructured":"Reiser J, Polu KR, Moller CC, Kenlan P, Altintas MM, Wei C, Faul C, Herbert S, Villegas I, Avila-Casado C, McGee M, Sugimoto H, Brown D, Kalluri R, Mundel P, Smith PL, Clapham DE, Pollak MR (2005) TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat Genet 37:739\u2013744","journal-title":"Nat Genet"},{"key":"505_CR28","doi-asserted-by":"crossref","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 the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308:1801\u20131804","journal-title":"Science"},{"key":"505_CR29","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.mrfmmm.2008.11.021","volume":"664","author":"B Zhu","year":"2008","unstructured":"Zhu B, Chen N, Wang ZH, Pan XX, Ren H, Zhang W, Wang WM (2008) Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients. Mutat Res 664:84\u201390","journal-title":"Mutat Res"},{"key":"505_CR30","doi-asserted-by":"crossref","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":"505_CR31","doi-asserted-by":"crossref","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":"505_CR32","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/j.cell.2007.11.028","volume":"131","author":"DE Clapham","year":"2007","unstructured":"Clapham DE (2007) Calcium signaling. Cell 131:1047\u20131058","journal-title":"Cell"},{"key":"505_CR33","doi-asserted-by":"crossref","first-page":"16586","DOI":"10.1073\/pnas.0606894103","volume":"103","author":"MA Spassova","year":"2006","unstructured":"Spassova MA, Hewavitharana T, Xu W, Soboloff J, Gill DL (2006) A common mechanism underlies stretch activation and receptor activation of TRPC6 channels. Proc Natl Acad Sci USA 103:16586\u201316591","journal-title":"Proc Natl Acad Sci USA"},{"key":"505_CR34","doi-asserted-by":"crossref","first-page":"18887","DOI":"10.1074\/jbc.M311274200","volume":"279","author":"C Hisatsune","year":"2004","unstructured":"Hisatsune C, Kuroda Y, Nakamura K, Inoue T, Nakamura T, Michikawa T, Mizutani A, Mikoshiba K (2004) Regulation of TRPC6 channel activity by tyrosine phosphorylation. J Biol Chem 279:18887\u201318894","journal-title":"J Biol Chem"},{"key":"505_CR35","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/nm.1857","volume":"14","author":"C Faul","year":"2008","unstructured":"Faul C, Donnelly M, Merscher-Gomez S, Chang YH, Franz S, Delfgaauw J, Chang JM, Choi HY, Campbell KN, Kim K, Reiser J, Mundel P (2008) The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A. Nat Med 14:931\u2013938","journal-title":"Nat Med"},{"key":"505_CR36","doi-asserted-by":"crossref","first-page":"C558","DOI":"10.1152\/ajpcell.00077.2008","volume":"296","author":"J Schlondorff","year":"2009","unstructured":"Schlondorff J, Del Camino D, Carrasquillo R, Lacey V, Pollak MR (2009) TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription. Am J Physiol Cell Physiol 296:C558\u2013C569","journal-title":"Am J Physiol Cell Physiol"},{"key":"505_CR37","doi-asserted-by":"crossref","unstructured":"M\u00f6ller CC, Flesche J, Reiser J (2009) Sensitizing the Slit Diaphragm with TRPC6 ion channels. J Am Soc Nephrol 20:950\u2013953","DOI":"10.1681\/ASN.2008030329"},{"key":"505_CR38","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1681\/ASN.2007121292","volume":"19","author":"MP Winn","year":"2008","unstructured":"Winn MP (2008) 2007 Young Investigator Award: TRP'ing into a new era for glomerular disease. J Am Soc Nephrol 19:1071\u20131075","journal-title":"J Am Soc Nephrol"},{"key":"505_CR39","doi-asserted-by":"crossref","first-page":"F1381","DOI":"10.1152\/ajprenal.00185.2007","volume":"293","author":"S Graham","year":"2007","unstructured":"Graham S, Ding M, Sours-Brothers S, Yorio T, Ma JX, Ma R (2007) Downregulation of TRPC6 protein expression by high glucose, a possible mechanism for the impaired Ca2+ signaling in glomerular mesangial cells in diabetes. Am J Physiol Renal Physiol 293:F1381\u2013F1390","journal-title":"Am J Physiol Renal Physiol"},{"key":"505_CR40","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1681\/ASN.2006091010","volume":"18","author":"CC Moller","year":"2007","unstructured":"Moller CC, Wei C, Altintas MM, Li J, Greka A, Ohse T, Pippin JW, Rastaldi MP, Wawersik S, Schiavi S, Henger A, Kretzler M, Shankland SJ, Reiser J (2007) Induction of TRPC6 channel in acquired forms of proteinuric kidney disease. J Am Soc Nephrol 18:29\u201336","journal-title":"J Am Soc Nephrol"},{"key":"505_CR41","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/ng1918","volume":"38","author":"B Hinkes","year":"2006","unstructured":"Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'Toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 38:1397\u20131405","journal-title":"Nat Genet"},{"key":"505_CR42","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1093\/ndt\/gfm759","volume":"23","author":"R Gbadegesin","year":"2008","unstructured":"Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23:1291\u20131297","journal-title":"Nephrol Dial Transplant"},{"key":"505_CR43","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/ki.2008.573","volume":"75","author":"RD Gilbert","year":"2009","unstructured":"Gilbert RD, Turner CL, Gibson J, Bass PS, Haq MR, Cross E, Bunyan DJ, Collins AR, Tapper WJ, Needell JC, Dell B, Morton NE, Temple IK, Robinson DO (2009) Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis. Kidney Int 75:415\u2013419","journal-title":"Kidney Int"},{"key":"505_CR44","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1124\/mi.3.5.273","volume":"3","author":"MR Wing","year":"2003","unstructured":"Wing MR, Bourdon DM, Harden TK (2003) PLC-epsilon: a shared effector protein in Ras-, Rho-, and G alpha beta gamma-mediated signaling. Mol Interv 3:273\u2013280","journal-title":"Mol Interv"},{"key":"505_CR45","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/978-3-540-34891-7_7","volume":"179","author":"A Dietrich","year":"2007","unstructured":"Dietrich A, Gudermann T (2007) Trpc6. Handbook Exp Pharmacol 179:125\u2013141","journal-title":"Handbook Exp Pharmacol"},{"key":"505_CR46","doi-asserted-by":"crossref","first-page":"F93","DOI":"10.1152\/ajprenal.00345.2007","volume":"294","author":"H Chaib","year":"2008","unstructured":"Chaib H, Hoskins BE, Ashraf S, Goyal M, Wiggins RC, Hildebrandt F (2008) Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3. Am J Physiol Renal Physiol 294:F93\u2013F99","journal-title":"Am J Physiol Renal Physiol"},{"key":"505_CR47","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","volume":"13","author":"M Zenker","year":"2004","unstructured":"Zenker M, Aigner T, Wendler O, Tralau T, Muntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wuhl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dotsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 13:2625\u20132632","journal-title":"Hum Mol Genet"},{"key":"505_CR48","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/ajmg.a.30310","volume":"130A","author":"M Zenker","year":"2004","unstructured":"Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dotsch J, Reis A, Muntefering H, Neumann LM (2004) Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A 130A:138\u2013145","journal-title":"Am J Med Genet A"},{"key":"505_CR49","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1007\/s00467-008-0748-7","volume":"23","author":"HJ Choi","year":"2008","unstructured":"Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI (2008) Variable phenotype of Pierson syndrome. Pediatr Nephrol 23:995\u20131000","journal-title":"Pediatr Nephrol"},{"key":"505_CR50","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/sj.ki.5001679","volume":"70","author":"K Hasselbacher","year":"2006","unstructured":"Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nurnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Broking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nurnberg P, Zenker M, Hildebrandt F (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 70:1008\u20131012","journal-title":"Kidney Int"},{"key":"505_CR51","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s00467-007-0624-x","volume":"23","author":"M Kagan","year":"2008","unstructured":"Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M (2008) A milder variant of Pierson syndrome. Pediatr Nephrol 23:323\u2013327","journal-title":"Pediatr Nephrol"},{"key":"505_CR52","doi-asserted-by":"crossref","first-page":"3283","DOI":"10.1093\/ndt\/gfl463","volume":"21","author":"V Matejas","year":"2006","unstructured":"Matejas V, Al-Gazali L, Amirlak I, Zenker M (2006) A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant 21:3283\u20133286","journal-title":"Nephrol Dial Transplant"},{"key":"505_CR53","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/1097-0029(20001101)51:3<214::AID-JEMT2>3.0.CO;2-J","volume":"51","author":"P Tunggal","year":"2000","unstructured":"Tunggal P, Smyth N, Paulsson M, Ott MC (2000) Laminins: structure and genetic regulation. Microsc Res Tech 51:214\u2013227","journal-title":"Microsc Res Tech"},{"key":"505_CR54","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.matbio.2003.10.006","volume":"22","author":"PD Yurchenco","year":"2004","unstructured":"Yurchenco PD, Amenta PS, Patton BL (2004) Basement membrane assembly, stability and activities observed through a developmental lens. Matrix Biol 22:521\u2013538","journal-title":"Matrix Biol"},{"key":"505_CR55","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1146\/annurev.cellbio.20.010403.094555","volume":"20","author":"JH Miner","year":"2004","unstructured":"Miner JH, Yurchenco PD (2004) Laminin functions in tissue morphogenesis. Annu Rev Cell Dev Biol 20:255\u2013284","journal-title":"Annu Rev Cell Dev Biol"},{"key":"505_CR56","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/S1357-2725(99)00030-8","volume":"31","author":"JH Miner","year":"1999","unstructured":"Miner JH, Patton BL (1999) Laminin-11. Int J Biochem Cell Biol 31:811\u2013816","journal-title":"Int J Biochem Cell Biol"},{"key":"505_CR57","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1083\/jcb.200603073","volume":"175","author":"N Sachs","year":"2006","unstructured":"Sachs N, Kreft M, van den Bergh Weerman MA, Beynon AJ, Peters TA, Weening JJ, Sonnenberg A (2006) Kidney failure in mice lacking the tetraspanin CD151. J Cell Biol 175:33\u201339","journal-title":"J Cell Biol"},{"key":"505_CR58","doi-asserted-by":"crossref","first-page":"2217","DOI":"10.1182\/blood-2004-04-1512","volume":"104","author":"V Karamatic Crew","year":"2004","unstructured":"Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ (2004) CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood 104:2217\u20132223","journal-title":"Blood"},{"key":"505_CR59","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/ng0895-400","volume":"10","author":"PG Noakes","year":"1995","unstructured":"Noakes PG, Miner JH, Gautam M, Cunningham JM, Sanes JR, Merlie JP (1995) The renal glomerulus of mice lacking s-laminin\/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. Nat Genet 10:400\u2013406","journal-title":"Nat Genet"},{"key":"505_CR60","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1016\/j.ydbio.2007.10.047","volume":"313","author":"K Kanasaki","year":"2008","unstructured":"Kanasaki K, Kanda Y, Palmsten K, Tanjore H, Lee SB, Lebleu VS, Gattone VH Jr, Kalluri R (2008) Integrin beta1-mediated matrix assembly and signaling are critical for the normal development and function of the kidney glomerulus. Dev Biol 313:584\u2013593","journal-title":"Dev Biol"},{"key":"505_CR61","doi-asserted-by":"crossref","first-page":"2272","DOI":"10.1172\/JCI28414","volume":"116","author":"G Jarad","year":"2006","unstructured":"Jarad G, Cunningham J, Shaw AS, Miner JH (2006) Proteinuria precedes podocyte abnormalities inLamb2-\/- mice, implicating the glomerular basement membrane as an albumin barrier. J Clin Invest 116:2272\u20132279","journal-title":"J Clin Invest"},{"key":"505_CR62","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1681\/ASN.2005090921","volume":"17","author":"C El-Aouni","year":"2006","unstructured":"El-Aouni C, Herbach N, Blattner SM, Henger A, Rastaldi MP, Jarad G, Miner JH, Moeller MJ, St-Arnaud R, Dedhar S, Holzman LB, Wanke R, Kretzler M (2006) Podocyte-specific deletion of integrin-linked kinase results in severe glomerular basement membrane alterations and progressive glomerulosclerosis. J Am Soc Nephrol 17:1334\u20131344","journal-title":"J Am Soc Nephrol"},{"key":"505_CR63","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/ki.2008.69","volume":"73","author":"S Lehtonen","year":"2008","unstructured":"Lehtonen S (2008) Connecting the interpodocyte slit diaphragm and actin dynamics: emerging role for the nephrin signaling complex. Kidney Int 73:903\u2013905","journal-title":"Kidney Int"},{"key":"505_CR64","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1038\/ng.232","volume":"40","author":"WH Kao","year":"2008","unstructured":"Kao WH, Klag MJ, Meoni LA, Reich D, Berthier-Schaad Y, Li M, Coresh J, Patterson N, Tandon A, Powe NR, Fink NE, Sadler JH, Weir MR, Abboud HE, Adler SG, Divers J, Iyengar SK, Freedman BI, Kimmel PL, Knowler WC, Kohn OF, Kramp K, Leehey DJ, Nicholas SB, Pahl MV, Schelling JR, Sedor JR, Thornley-Brown D, Winkler CA, Smith MW, Parekh RS (2008) MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet 40:1185\u20131192","journal-title":"Nat Genet"},{"key":"505_CR65","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1038\/ng.226","volume":"40","author":"JB Kopp","year":"2008","unstructured":"Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, Bowden DW, Oleksyk T, McKenzie LM, Kajiyama H, Ahuja TS, Berns JS, Briggs W, Cho ME, Dart RA, Kimmel PL, Korbet SM, Michel DM, Mokrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 40:1175\u20131184","journal-title":"Nat Genet"},{"key":"505_CR66","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1086\/324267","volume":"69","author":"KE Heath","year":"2001","unstructured":"Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May\u2013Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 69:1033\u20131045","journal-title":"Am J Hum Genet"},{"key":"505_CR67","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ki.2008.650","volume":"75","author":"E Machuca","year":"2009","unstructured":"Machuca E, Hummel A, Nevo F, Dantal J, Martinez F, Al-Sabban E, Baudouin V, Abel L, Grunfeld JP, Antignac C (2009) Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int 75:727\u2013735","journal-title":"Kidney Int"}],"container-title":["Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-009-0505-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00109-009-0505-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-009-0505-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T16:08:17Z","timestamp":1710518897000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00109-009-0505-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8,1]]},"references-count":67,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["505"],"URL":"https:\/\/doi.org\/10.1007\/s00109-009-0505-9","relation":{},"ISSN":["0946-2716","1432-1440"],"issn-type":[{"value":"0946-2716","type":"print"},{"value":"1432-1440","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,1]]}}}