{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T21:33:44Z","timestamp":1793482424502,"version":"4.5.0"},"reference-count":82,"publisher":"Springer Science and Business Media LLC","issue":"7-8","license":[{"start":{"date-parts":[[2017,7,5]],"date-time":"2017-07-05T00:00:00Z","timestamp":1499212800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB 699"],"award-info":[{"award-number":["SFB 699"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pflugers Arch - Eur J Physiol"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1007\/s00424-017-2013-z","type":"journal-article","created":{"date-parts":[[2017,7,5]],"date-time":"2017-07-05T00:21:47Z","timestamp":1499214107000},"page":"927-936","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Nail-patella syndrome"],"prefix":"10.1007","volume":"469","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5283-4846","authenticated-orcid":false,"given":"Ralph","family":"Witzgall","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,7,5]]},"reference":[{"key":"2013_CR1","first-page":"350","volume":"92","author":"M Ben-Bassat","year":"1971","unstructured":"Ben-Bassat M, Cohen L, Rosenfeld J (1971) The glomerular basement membrane in the nail-patella syndrome. Arch Pathol 92:350\u2013355","journal-title":"Arch Pathol"},{"key":"2013_CR2","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1007\/s00467-002-0911-5","volume":"17","author":"EMHF Bongers","year":"2002","unstructured":"Bongers EMHF, Gubler M-C, Knoers NVAM (2002) Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 17:703\u2013712","journal-title":"Pediatr Nephrol"},{"key":"2013_CR3","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1038\/sj.ejhg.5201446","volume":"13","author":"EMHF Bongers","year":"2005","unstructured":"Bongers EMHF, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJC, Huygen PLM, Cruysberg JRM, Toolens PAMP, Prins JB, Krabbe PFM, Borm GF, Schoots J, van Bokhoven H, van Remortele AMF, Hoefsloot LH, van Kampen A, Knoers NVAM (2005) Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 13:935\u2013946","journal-title":"Eur J Hum Genet"},{"key":"2013_CR4","doi-asserted-by":"crossref","unstructured":"Bongers EMHF, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NVAM (2008) Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 16:1240\u20131244","DOI":"10.1038\/ejhg.2008.83"},{"key":"2013_CR5","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 M-C, 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":"2013_CR6","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1681\/ASN.2010050518","volume":"22","author":"O Boyer","year":"2011","unstructured":"Boyer O, Benoit G, Gribouval O, Nevo F, T\u00eate M-J, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Grunfeld J-P, Legendre C, Joly D, Rieu P, Mohsin N, Hannedouche T, Moal V, Gubler M-C, Broutin I, Mollet G, Antignac C (2011) Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol 22:239\u2013245","journal-title":"J Am Soc Nephrol"},{"key":"2013_CR7","doi-asserted-by":"crossref","unstructured":"Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O et al (2013) LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol 24:1216\u20131222","DOI":"10.1681\/ASN.2013020171"},{"key":"2013_CR8","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/0002-9343(50)90098-2","volume":"8","author":"AM Brixey Jr","year":"1950","unstructured":"Brixey AM Jr, Burke RM (1950) Arthro-onychodysplasia. Hereditary syndrome involving deformity of head of radius, absence of patellas, posterior iliac spurs, dystrophy of finger nails. Am J Med 8:738\u2013744","journal-title":"Am J Med"},{"key":"2013_CR9","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.505","volume":"42","author":"EJ Brown","year":"2010","unstructured":"Brown EJ, Schl\u00f6ndorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR (2010) Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 42:72\u201376","journal-title":"Nat Genet"},{"key":"2013_CR10","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1681\/ASN.2012080788","volume":"24","author":"T Burghardt","year":"2013","unstructured":"Burghardt T, Kastner J, Suleiman H, Rivera-Milla E, Stepanova N, Lottaz C, Kubitza M, B\u00f6ger CA, Schmidt S, Gorski M, de Vries U, Schmidt H, Hertting I, Kopp J, Rascle A, Moser M, Heid IM, Warth R, Spang R, Wegener J, Mierke CT, Englert C, Witzgall R (2013) LMX1B is essential for the maintenance of differentiated podocytes in adult kidneys. J Am Soc Nephrol 24:1830\u20131848","journal-title":"J Am Soc Nephrol"},{"key":"2013_CR11","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1097\/00000441-196408000-00002","volume":"248","author":"P Carbonara","year":"1964","unstructured":"Carbonara P, Alpert M (1964) Hereditary osteo-onycho-dysplasia (HOOD). Am J Med Sci 248:139\u2013151","journal-title":"Am J Med Sci"},{"key":"2013_CR12","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/ng0598-51","volume":"19","author":"H Chen","year":"1998","unstructured":"Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, Gan L, Lee B, Johnson RL (1998) Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 19:51\u201355","journal-title":"Nat Genet"},{"key":"2013_CR13","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/ajcp\/54.6.845","volume":"54","author":"E Pozo del","year":"1970","unstructured":"del Pozo E, Lapp H (1970) Ultrastructure of the kidney in the nephropathy of the nail-patella syndrome. Am J Clin Pathol 54:845\u2013851","journal-title":"Am J Clin Pathol"},{"key":"2013_CR14","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/S0272-6386(82)80060-7","volume":"1","author":"NK Dombros","year":"1982","unstructured":"Dombros NK, A. (1982) Nail patella-like renal lesions in the absence of skeletal abnormalities. Am J Kidney Dis 1:237\u2013240","journal-title":"Am J Kidney Dis"},{"key":"2013_CR15","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/ng0598-47","volume":"19","author":"SD Dreyer","year":"1998","unstructured":"Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19:47\u201350","journal-title":"Nat Genet"},{"key":"2013_CR16","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1093\/hmg\/9.7.1067","volume":"9","author":"SD Dreyer","year":"2000","unstructured":"Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B (2000) LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet 9:1067\u20131074","journal-title":"Hum Mol Genet"},{"key":"2013_CR17","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ygeno.2004.06.002","volume":"84","author":"JA Dunston","year":"2004","unstructured":"Dunston JA, Hamlington JD, Zaveri J, Sweeney E, Sibbring J, Tran C, Malbroux M, O'Neill JP, Mountford R, McIntosh I (2004) The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. Genomics 84:565\u2013576","journal-title":"Genomics"},{"key":"2013_CR18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1046\/j.1529-8817.2004.00133.x","volume":"69","author":"JA Dunston","year":"2005","unstructured":"Dunston JA, Lin S, Park JW, Malbroux M, McIntosh I (2005) Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. Ann Hum Genet 69:1\u20138","journal-title":"Ann Hum Genet"},{"key":"2013_CR19","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1172\/JCI17423","volume":"111","author":"V Eremina","year":"2003","unstructured":"Eremina V, Sood M, Haigh J, Nagy A, Lajoie G, Ferrara N, Gerber H-P, Kikkawa Y, Miner JH, Quaggin SE (2003) Glomerular-specific alterations of VEGF-A expression lead to distinct congenital and acquired renal diseases. J Clin Invest 111:707\u2013716","journal-title":"J Clin Invest"},{"key":"2013_CR20","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/j.1440-169X.2012.01331.x","volume":"54","author":"JM Feenstra","year":"2012","unstructured":"Feenstra JM, Kanaya K, Pira CU, Hoffmann SE, Eppey RJ, Oberg KC (2012) Detection of genes regulated by Lmx1b during limb dorsalization. Develop Growth Differ 54:451\u2013462","journal-title":"Develop Growth Differ"},{"key":"2013_CR21","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1148\/47.5.517","volume":"47","author":"EE Fong","year":"1946","unstructured":"Fong EE (1946) \u201cIliac horns\u201d (symmetrical bilateral central posterior iliac processes). Radiology 47:517\u2013518","journal-title":"Radiology"},{"key":"2013_CR22","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1038\/344876a0","volume":"344","author":"G Freyd","year":"1990","unstructured":"Freyd G, Kim SK, Horvitz HR (1990) Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11. Nature 344:876\u2013879","journal-title":"Nature"},{"key":"2013_CR23","doi-asserted-by":"crossref","first-page":"22676","DOI":"10.1074\/jbc.M110.122929","volume":"285","author":"P Garg","year":"2010","unstructured":"Garg P, Verma R, Cook L, Soofi A, Venkatareddy M, George B, Mizuno K, Gurniak C, Witke W, Holzman LB (2010) Actin-depolymerizing factor cofilin-1 is necessary in maintaining mature podocyte architecture. J Biol Chem 285:22676\u201322688","journal-title":"J Biol Chem"},{"key":"2013_CR24","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1101\/gad.6.11.2165","volume":"6","author":"MS German","year":"1992","unstructured":"German MS, Wang J, Chadwick RB, Rutter WJ (1992) Synergistic activation of the insulin gene by a LIM-homeodomain protein and a basic helix-loop-helix protein: building a functional insulin minienhancer complex. Genes Dev 6:2165\u20132176","journal-title":"Genes Dev"},{"key":"2013_CR25","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1002\/dvdy.22357","volume":"239","author":"WXW Gu","year":"2010","unstructured":"Gu WXW, Kania A (2010) Identification of genes controlled by LMX1B in E13.5 limbs. Dev Dyn 239:2246\u20132255","journal-title":"Dev Dyn"},{"key":"2013_CR26","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/S0140-6736(50)90636-2","volume":"255","author":"CF Hawkins","year":"1950","unstructured":"Hawkins CF, Smith OE (1950) Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet 255:803\u2013808","journal-title":"Lancet"},{"key":"2013_CR27","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0002-9440(10)63638-3","volume":"163","author":"L Heidet","year":"2003","unstructured":"Heidet L, Bongers EMHF, Sich M, Zhang S-Y, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NVAM, Gubler M-C (2003) In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. Am J Pathol 163:145\u2013155","journal-title":"Am J Pathol"},{"key":"2013_CR28","doi-asserted-by":"crossref","first-page":"4161","DOI":"10.1242\/dev.00621","volume":"130","author":"I Hiratani","year":"2003","unstructured":"Hiratani I, Yamamoto N, Mochizuki T, Ohmori S-Y, Taira M (2003) Selective degradation of excess Ldb1 by Rnf12\/RLIM confers proper Ldb1 expression levels and Xlim-1\/Ldb1 stoichiometry in Xenopus organizer functions. Development 130:4161\u20134175","journal-title":"Development"},{"key":"2013_CR29","doi-asserted-by":"crossref","first-page":"e53122","DOI":"10.1371\/journal.pone.0053122","volume":"8","author":"EJ Hoekstra","year":"2013","unstructured":"Hoekstra EJ, Mesman S, de Munnik WA, Smidt MP (2013) LMX1B is part of a transcriptional complex with PSPC1 and PSF. PLoS One 8:e53122","journal-title":"PLoS One"},{"key":"2013_CR30","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1016\/S0002-9440(10)65483-1","volume":"155","author":"H Holth\u00f6fer","year":"1999","unstructured":"Holth\u00f6fer H, Ahola H, Solin M-L, Wang S, Palmen T, Luimula P, Miettinen A, Kerjaschki D (1999) Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney. Am J Pathol 155:1681\u20131687","journal-title":"Am J Pathol"},{"key":"2013_CR31","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1046\/j.1523-1755.1999.00719.x","volume":"56","author":"LB Holzman","year":"1999","unstructured":"Holzman LB, St. John PL, Kovari IA, Verma R, Holthofer H, Abrahamson DR (1999) Nephrin localizes to the slit pore of the glomerular epithelial cell. Kidney Int 56:1481\u20131491","journal-title":"Kidney Int"},{"key":"2013_CR32","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1172\/JCI27400","volume":"116","author":"TB Huber","year":"2006","unstructured":"Huber TB, Kwoh C, Wu H, Asanuma K, G\u00f6del M, Hartleben B, Blumer KJ, Miner JH, Mundel P, Shaw AS (2006) Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin. J Clin Invest 116:1337\u20131345","journal-title":"J Clin Invest"},{"key":"2013_CR33","first-page":"155","volume":"33","author":"K Ikeda","year":"1990","unstructured":"Ikeda K, Yokoyama H, Tomosugi N, Kida H, Ooshima A, Kobayashi K (1990) Primary glomerular fibrosis: a new nephropathy caused by diffuse intra-glomerular increase in atypical type III collagen fibers. Clin Nephrol 33:155\u2013159","journal-title":"Clin Nephrol"},{"key":"2013_CR34","doi-asserted-by":"crossref","unstructured":"Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S et al (2014) LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. Nephrol Dial Transplant 29:81\u201388","DOI":"10.1093\/ndt\/gft359"},{"key":"2013_CR35","doi-asserted-by":"crossref","first-page":"3488","DOI":"10.1128\/MCB.17.7.3488","volume":"17","author":"JD Johnson","year":"1997","unstructured":"Johnson JD, Zhang W, Rudnick A, Rutter WJ, German MS (1997) Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity. Mol Cell Biol 17:3488\u20133496","journal-title":"Mol Cell Biol"},{"key":"2013_CR36","doi-asserted-by":"crossref","first-page":"5688","DOI":"10.1128\/MCB.17.10.5688","volume":"17","author":"LW Jurata","year":"1997","unstructured":"Jurata LW, Gill GN (1997) Functional analysis of the nuclear LIM domain interactor NLI. Mol Cell Biol 17:5688\u20135698","journal-title":"Mol Cell Biol"},{"key":"2013_CR37","doi-asserted-by":"crossref","first-page":"2470","DOI":"10.1172\/JCI119431","volume":"99","author":"R Kalluri","year":"1997","unstructured":"Kalluri R, Shield CF III, Todd P, Hudson BG, Neilson EG (1997) Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest 99:2470\u20132478","journal-title":"J Clin Invest"},{"key":"2013_CR38","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 H-Q, Mathis BJ, Rodr\u00edguez-P\u00e9rez J-C, Allen PG, Beggs AH, Pollak MR (2000) Mutations in ACTN4, encoding a-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 24:251\u2013256","journal-title":"Nat Genet"},{"key":"2013_CR39","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1038\/344879a0","volume":"344","author":"O Karlsson","year":"1990","unstructured":"Karlsson O, Thor S, Norberg T, Ohlsson H, Edlund T (1990) Insulin gene enhancer binding protein Isl-1 is a member of a novel class of proteins containing both a homeo- and a Cys-His domain. Nature 344:879\u2013882","journal-title":"Nature"},{"key":"2013_CR40","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","volume":"1","author":"M Kestil\u00e4","year":"1998","unstructured":"Kestil\u00e4 M, Lenkkeri U, M\u00e4nnikk\u00f6 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\u2014nephrin\u2014is mutated in congenital nephrotic syndrome. Mol Cell 1:575\u2013582","journal-title":"Mol Cell"},{"key":"2013_CR41","first-page":"594","volume":"23","author":"W Kieser","year":"1939","unstructured":"Kieser W (1939) Flughaut beim Menschen. Ihre Beziehung zum Status dysraphicus und ihre Erblichkeit Z menschl Vererb Konstitutionslehre 23:594\u2013619","journal-title":"Ihre Beziehung zum Status dysraphicus und ihre Erblichkeit Z menschl Vererb Konstitutionslehre"},{"key":"2013_CR42","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":"2013_CR43","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1002\/dvdy.21514","volume":"237","author":"D Krawchuk","year":"2008","unstructured":"Krawchuk D, Kania A (2008) Identification of genes controlled by LMX1B in the developing mouse limb bud. Dev Dyn 237:1183\u20131192","journal-title":"Dev Dyn"},{"key":"2013_CR44","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1016\/S0140-6736(00)81043-0","volume":"228","author":"AM Lester","year":"1936","unstructured":"Lester AM (1936) A familial dyschondroplasia associated with anonychia and other deformities. Lancet 228:1519\u20131521","journal-title":"Lancet"},{"key":"2013_CR45","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/S0140-6736(00)64875-4","volume":"150","author":"EM Little","year":"1897","unstructured":"Little EM (1897) Congenital absence or delayed development of the patella. Lancet 150:781\u2013784","journal-title":"Lancet"},{"key":"2013_CR46","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1038\/sj.ki.5002469","volume":"72","author":"MM L\u00f6wik","year":"2007","unstructured":"L\u00f6wik MM, Groenen PJTA, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP (2007) Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int 72:1198\u20131203","journal-title":"Kidney Int"},{"key":"2013_CR47","first-page":"79","volume":"12","author":"M Marini","year":"2003","unstructured":"Marini M, Bongers EMHF, Cusano R, di Duca M, Seri M, Knoers NVAM, Ravazzolo R (2003) Confirmation of CLIM2\/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. Int J Mol Med 12:79\u201382","journal-title":"Int J Mol Med"},{"key":"2013_CR48","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/sj.ejhg.5201405","volume":"13","author":"M Marini","year":"2005","unstructured":"Marini M, Giacopelli F, Seri M, Ravazzolo R (2005) Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in nail-patella syndrome. Eur J Hum Genet 13:789\u2013792","journal-title":"Eur J Hum Genet"},{"key":"2013_CR49","doi-asserted-by":"crossref","unstructured":"Marini M, Bocciardi R, Gimelli S, di Duca M, Divizia MT, Baban A et al (2010) A spectrum of LMX1B mutations in nail-patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected patients. Genet Med 12:431\u2013439","DOI":"10.1097\/GIM.0b013e3181e21afa"},{"key":"2013_CR50","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1038\/308428a0","volume":"308","author":"W McGinnis","year":"1984","unstructured":"McGinnis W, Levine MS, Hafen E, Kuroiwa A, Gehring WJ (1984) A conserved DNA sequence in homeotic genes of the Drosophila Antennapedia and bithorax complexes. Nature 308:428\u2013433","journal-title":"Nature"},{"key":"2013_CR51","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1086\/302165","volume":"63","author":"I McIntosh","year":"1998","unstructured":"McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B (1998) Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 63:1651\u20131658","journal-title":"Am J Hum Genet"},{"key":"2013_CR52","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1083\/jcb.127.3.879","volume":"127","author":"JH Miner","year":"1994","unstructured":"Miner JH, Sanes JR (1994) Collagen IV a3, a4, and a5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches. J Cell Biol 127:879\u2013891","journal-title":"J Cell Biol"},{"key":"2013_CR53","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1172\/JCI0213954","volume":"109","author":"JH Miner","year":"2002","unstructured":"Miner JH, Morello R, Andrews KL, Li C, Antignac C, Shaw AS, Lee B (2002) Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest 109:1065\u20131072","journal-title":"J Clin Invest"},{"key":"2013_CR54","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/84853","volume":"27","author":"R Morello","year":"2001","unstructured":"Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B (2001) Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 27:205\u2013208","journal-title":"Nat Genet"},{"key":"2013_CR55","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1001\/archinte.1973.00320080107015","volume":"131","author":"T Morita","year":"1973","unstructured":"Morita T, Laughlin LO, Kawano K, Kimmelstiel P, Suzuki Y, Churg J (1973) Nail-patella syndrome. Light and electron microscopic studies of the kidney. Arch Intern Med 131:271\u2013277","journal-title":"Arch Intern Med"},{"key":"2013_CR56","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1242\/dev.00225","volume":"130","author":"M Mukhopadhyay","year":"2003","unstructured":"Mukhopadhyay M, Teufel A, Yamashita T, Agulnick AD, Chen L, Downs KM, Schindler A, Grinberg A, Huang S-P, Dorward D, Westphal H (2003) Functional ablation of the mouse Ldb1 gene results in severe patterning defects during gastrulation. Development 130:495\u2013505","journal-title":"Development"},{"key":"2013_CR57","doi-asserted-by":"crossref","first-page":"2535","DOI":"10.1242\/dev.01844","volume":"132","author":"N Nishioka","year":"2005","unstructured":"Nishioka N, Nagano S, Nakayama R, Kiyonari H, Ijiri T, Taniguchi K, Shawlot W, Hayashizaki Y, Westphal H, Behringer RR, Matsuda Y, Sakoda S, Kondoh H, Sasaki H (2005) Ssdp1 regulates head morphogenesis of mouse embryos by activating the Lim1-Ldb1 complex. Development 132:2535\u20132546","journal-title":"Development"},{"key":"2013_CR58","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/416099a","volume":"416","author":"HP Ostendorff","year":"2002","unstructured":"Ostendorff HP, Peirano RI, Peters MA, Schl\u00fcter A, Bossenz M, Scheffner M, Bach I (2002) Ubiquitination-dependent cofactor exchange on LIM homeodomain transcription factors. Nature 416:99\u2013103","journal-title":"Nature"},{"key":"2013_CR59","first-page":"465","volume":"15","author":"W \u00d6sterreicher","year":"1930","unstructured":"\u00d6sterreicher W (1930) Gemeinsame Vererbung von Anonychie bzw. Onychatrophie, Patellardefekt und Luxatio radii. Dominantes Auftreten in 5 Generationen. Z Konstitutionslehre 15:465\u2013476","journal-title":"Z Konstitutionslehre"},{"key":"2013_CR60","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/(SICI)1526-968X(200001)26:1<15::AID-GENE5>3.0.CO;2-V","volume":"26","author":"CL Pressman","year":"2000","unstructured":"Pressman CL, Chen H, Johnson RL (2000) Lmx1b, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye. Genesis 26:15\u201325","journal-title":"Genesis"},{"key":"2013_CR61","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/10.1.1","volume":"10","author":"H Putaala","year":"2001","unstructured":"Putaala H, Soininen R, Kilpel\u00e4inen P, Wartiovaara J, Tryggvason K (2001) The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum Mol Genet 10:1\u20138","journal-title":"Hum Mol Genet"},{"key":"2013_CR62","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.yexcr.2008.10.012","volume":"315","author":"A Rascle","year":"2009","unstructured":"Rascle A, Neumann T, Raschta A-S, Neumann A, Heining E, Kastner J et al (2009) The LIM-homeodomain transcription factor LMX1B regulates expression of NF-kappa B target genes. Exp Cell Res 315:76\u201396","journal-title":"Exp Cell Res"},{"key":"2013_CR63","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1111\/j.1469-1809.1955.tb01356.x","volume":"19","author":"JH Renwick","year":"1955","unstructured":"Renwick JH, Lawler SD (1955) Genetical linkage between the ABO and nail-patella loci. Ann Hum Genet 19:312\u2013331","journal-title":"Ann Hum Genet"},{"key":"2013_CR64","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/0092-8674(95)90103-5","volume":"83","author":"RD Riddle","year":"1995","unstructured":"Riddle RD, Ensini M, Nelson C, Tsuchida T, Jessell TM, Tabin C (1995) Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb. Cell 83:631\u2013640","journal-title":"Cell"},{"key":"2013_CR65","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1055\/s-0029-1232044","volume":"75","author":"W Roeckerath","year":"1951","unstructured":"Roeckerath W (1951) Heredit\u00e4re Osteo-onycho-dysplasie. Fortschr Geb Rontgenstr 75:700\u2013712","journal-title":"Fortschr Geb Rontgenstr"},{"key":"2013_CR66","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1172\/JCI0213961","volume":"109","author":"C Rohr","year":"2002","unstructured":"Rohr C, Prestel J, Heidet L, Hosser H, Kriz W, Johnson RL, Antignac C, Witzgall R (2002) The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest 109:1073\u20131082","journal-title":"J Clin Invest"},{"key":"2013_CR67","doi-asserted-by":"crossref","first-page":"7962","DOI":"10.1073\/pnas.96.14.7962","volume":"96","author":"V Ruotsalainen","year":"1999","unstructured":"Ruotsalainen V, Ljungberg P, Wartiovaara J, Lenkkeri U, Kestil\u00e4 M, Jalanko H, Holmberg C, Tryggvason K (1999) Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A 96:7962\u20137967","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2013_CR68","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/ajmg.1320190321","volume":"19","author":"JR Salcedo","year":"1984","unstructured":"Salcedo JR (1984) An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred. Am J Med Genet 19:579\u2013584","journal-title":"Am J Med Genet"},{"key":"2013_CR69","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1203\/01.PDR.0000157674.63621.2C","volume":"57","author":"U Sato","year":"2005","unstructured":"Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T (2005) Functional characterization of LMX1B mutations associated with nail-patella syndrome. Pediatr Res 57:783\u2013788","journal-title":"Pediatr Res"},{"key":"2013_CR70","doi-asserted-by":"crossref","unstructured":"Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA et al (2007) Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome. Am J Med Genet 143A:1071\u20131081","DOI":"10.1002\/ajmg.a.31685"},{"key":"2013_CR71","doi-asserted-by":"crossref","first-page":"4115","DOI":"10.1073\/pnas.81.13.4115","volume":"81","author":"MP Scott","year":"1984","unstructured":"Scott MP, Weiner AJ (1984) Structural relationships among genes that control development: sequence homology between the Antennapedia, Ultrabithorax, and fushi tarazu loci of Drosophila. Proc Natl Acad Sci U S A 81:4115\u20134119","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2013_CR72","first-page":"285","volume":"4","author":"M Seri","year":"1999","unstructured":"Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B (1999) Identification of LMX1B gene point mutations in Italian patients affected with nail-patella syndrome. Int J Mol Med 4:285\u2013290","journal-title":"Int J Mol Med"},{"key":"2013_CR73","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.ydbio.2007.01.020","volume":"304","author":"H Suleiman","year":"2007","unstructured":"Suleiman H, Heudobler D, Raschta A-S, Zhao Y, Zhao Q, Hertting I, Vitzthum H, Moeller MJ, Holzman LB, Rachel R, Johnson R, Westphal H, Rascle A, Witzgall R (2007) The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes. Dev Biol 304:701\u2013712","journal-title":"Dev Biol"},{"key":"2013_CR74","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/jmg.40.3.153","volume":"40","author":"E Sweeney","year":"2003","unstructured":"Sweeney E, Fryer A, Mountford R, Green A, McIntosh I (2003) Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet 40:153\u2013162","journal-title":"J Med Genet"},{"key":"2013_CR75","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1159\/000424812","volume":"117","author":"K Tryggvason","year":"2001","unstructured":"Tryggvason K (2001) Mutations in type IV collagen genes and Alport phenotypes. Contrib Nephrol 117:154\u2013171","journal-title":"Contrib Nephrol"},{"key":"2013_CR76","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1001\/jama.1933.02740120020008","volume":"100","author":"JW Turner","year":"1933","unstructured":"Turner JW (1933) An hereditary arthrodysplasia associated with hereditary dystrophy of the nails. J Am Med Assoc 100:882\u2013884","journal-title":"J Am Med Assoc"},{"key":"2013_CR77","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1038\/378716a0","volume":"378","author":"A Vogel","year":"1995","unstructured":"Vogel A, Rodriguez C, Warnken W, Izpis\u00faa Belmonte JC (1995) Dorsal cell fate specified by chick Lmx1 during vertebrate limb development. Nature 378:716\u2013720","journal-title":"Nature"},{"key":"2013_CR78","doi-asserted-by":"crossref","first-page":"4915","DOI":"10.1529\/biophysj.108.131722","volume":"95","author":"SM Volkmer Ward","year":"2008","unstructured":"Volkmer Ward SM, Weins A, Pollak MR, Weitz DA (2008) Dynamic viscoelasticity of actin cross-linked with wild-type and disease-causing mutant alpha-actinin-4. Biophys J 95:4915\u20134923","journal-title":"Biophys J"},{"key":"2013_CR79","doi-asserted-by":"crossref","unstructured":"Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE (1998) Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 7:1091\u20131098","DOI":"10.1093\/hmg\/7.7.1091"},{"key":"2013_CR80","doi-asserted-by":"crossref","unstructured":"Weins A, Kenlan P, Herbert S, Le TC, Villegas I, Kaplan BS, Appel GB, Pollak MR (2005) Mutational and biological analysis of \u03b1-actinin-4 in focal segmental glomerulosclerosis. J Am Soc Nephrol 16:3694\u20133701","DOI":"10.1681\/ASN.2005070706"},{"key":"2013_CR81","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/0092-8674(94)90076-0","volume":"79","author":"Y Zhuang","year":"1994","unstructured":"Zhuang Y, Soriano P, Weintraub H (1994) The helix-loop-helix gene E2A is required for B cell formation. Cell 79:875\u2013884","journal-title":"Cell"},{"key":"2013_CR82","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1080\/01913120390239971","volume":"27","author":"CW Zuppan","year":"2003","unstructured":"Zuppan CW, Weeks DA, Cutler D (2003) Nail-patella glomerulopathy without associated constitutional abnormalities. Ultrastruct Pathol 27:357\u2013361","journal-title":"Ultrastruct Pathol"}],"container-title":["Pfl\u00fcgers Archiv - European Journal of Physiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00424-017-2013-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00424-017-2013-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00424-017-2013-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T10:33:17Z","timestamp":1501669997000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00424-017-2013-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,5]]},"references-count":82,"journal-issue":{"issue":"7-8","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["2013"],"URL":"https:\/\/doi.org\/10.1007\/s00424-017-2013-z","relation":{},"ISSN":["0031-6768","1432-2013"],"issn-type":[{"value":"0031-6768","type":"print"},{"value":"1432-2013","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,5]]}}}