{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:49:54Z","timestamp":1790819394855,"version":"4.1.0"},"publisher-location":"Cham","reference-count":146,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783319514352","type":"print"},{"value":"9783319514369","type":"electronic"}],"license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017]]},"DOI":"10.1007\/978-3-319-51436-9_10","type":"book-chapter","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T08:44:17Z","timestamp":1492073057000},"page":"257-279","source":"Crossref","is-referenced-by-count":10,"title":["Genetic Syndromes Affecting Kidney Development"],"prefix":"10.1007","author":[{"given":"Abhijeet","family":"Pal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly J","family":"Reidy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,4,14]]},"reference":[{"key":"10_CR1","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1002\/ajmg.a.33293","volume":"152a","author":"M Aguinaga","year":"2010","unstructured":"Aguinaga M, Zenteno JC, Perez-Cano H, Moran V (2010) Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet Part A 152a:781\u2013783. doi: 10.1002\/ajmg.a.33293","journal-title":"Am J Med Genet Part A"},{"key":"10_CR2","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1159\/000112058","volume":"119","author":"O Altug-Teber","year":"2007","unstructured":"Altug-Teber O et al (2007) Specific transcriptional changes in human fetuses with autosomal trisomies. Cytogenet Genome Res 119:171\u2013184. doi: 10.1159\/000112058","journal-title":"Cytogenet Genome Res"},{"key":"10_CR3","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1016\/j.ydbio.2006.08.051","volume":"299","author":"MA Basson","year":"2006","unstructured":"Basson MA et al (2006) Branching morphogenesis of the ureteric epithelium during kidney development is coordinated by the opposing functions of GDNF and Sprouty1. Dev Biol 299:466\u2013477. doi: 10.1016\/j.ydbio.2006.08.051","journal-title":"Dev Biol"},{"key":"10_CR4","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1242\/dev.095851","volume":"141","author":"JM Basta","year":"2014","unstructured":"Basta JM, Robbins L, Kiefer SM, Dorsett D, Rauchman M (2014) Sall1 balances self-renewal and differentiation of renal progenitor cells. Development 141:1047\u20131058. doi: 10.1242\/dev.095851","journal-title":"Development"},{"key":"10_CR5","doi-asserted-by":"publisher","first-page":"F245","DOI":"10.1152\/ajprenal.00186.2011","volume":"301","author":"CM Bates","year":"2011","unstructured":"Bates CM (2011) Role of fibroblast growth factor receptor signaling in kidney development. Am J Physiol Renal Physiol 301:F245\u2013F251. doi: 10.1152\/ajprenal.00186.2011","journal-title":"Am J Physiol Renal Physiol"},{"key":"10_CR6","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.biocel.2006.06.007","volume":"39","author":"P Bernard","year":"2007","unstructured":"Bernard P, Harley VR (2007) Wnt4 action in gonadal development and sex determination. Int J Biochem Cell Biol 39:31\u201343. doi: 10.1016\/j.biocel.2006.06.007","journal-title":"Int J Biochem Cell Biol"},{"key":"10_CR7","doi-asserted-by":"publisher","first-page":"2889","DOI":"10.1016\/j.biocel.2008.06.006","volume":"40","author":"P Bernard","year":"2008","unstructured":"Bernard P, Sim H, Knower K, Vilain E, Harley V (2008) Human SRY inhibits beta-catenin-mediated transcription. Int J Biochem Cell Biol 40:2889\u20132900. doi: 10.1016\/j.biocel.2008.06.006","journal-title":"Int J Biochem Cell Biol"},{"key":"10_CR8","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.mce.2011.09.009","volume":"351","author":"A Berthon","year":"2012","unstructured":"Berthon A, Martinez A, Bertherat J, Val P (2012) Wnt\/beta-catenin signalling in adrenal physiology and tumour development. Mol Cell Endocrinol 351:87\u201395. doi: 10.1016\/j.mce.2011.09.009","journal-title":"Mol Cell Endocrinol"},{"key":"10_CR9","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1056\/NEJMoa040533","volume":"351","author":"A Biason-Lauber","year":"2004","unstructured":"Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ (2004) A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman. N Engl J Med 351:792\u2013798. doi: 10.1056\/NEJMoa040533","journal-title":"N Engl J Med"},{"key":"10_CR10","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1093\/humrep\/del360","volume":"22","author":"A Biason-Lauber","year":"2007","unstructured":"Biason-Lauber A et al (2007) WNT4 deficiency\u2014a clinical phenotype distinct from the classic Mayer\u2013Rokitansky\u2013Kuster\u2013Hauser syndrome: a case report. Hum Reprod 22:224\u2013229. doi: 10.1093\/humrep\/del360","journal-title":"Hum Reprod"},{"key":"10_CR11","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1086\/316945","volume":"68","author":"C Bingham","year":"2001","unstructured":"Bingham C et al (2001) Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68:219\u2013224. doi: 10.1086\/316945","journal-title":"Am J Hum Genet"},{"key":"10_CR12","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.semcdb.2014.07.011","volume":"36","author":"J Blake","year":"2014","unstructured":"Blake J, Rosenblum ND (2014) Renal branching morphogenesis: morphogenetic and signaling mechanisms. Semin Cell Dev Biol 36:2\u201312. doi: 10.1016\/j.semcdb.2014.07.011","journal-title":"Semin Cell Dev Biol"},{"key":"10_CR13","doi-asserted-by":"publisher","first-page":"2166","DOI":"10.1093\/hmg\/ddp149","volume":"18","author":"CS Bonnet","year":"2009","unstructured":"Bonnet CS et al (2009) Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis. Hum Mol Genet 18:2166\u20132176. doi: 10.1093\/hmg\/ddp149","journal-title":"Hum Mol Genet"},{"key":"10_CR14","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V","volume":"71","author":"LD Botto","year":"1997","unstructured":"Botto LD et al (1997) The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 71:8\u201315","journal-title":"Am J Med Genet"},{"key":"10_CR15","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.ydbio.2008.02.010","volume":"317","author":"D Bridgewater","year":"2008","unstructured":"Bridgewater D et al (2008) Canonical WNT\/beta-catenin signaling is required for ureteric branching. Dev Biol 317:83\u201394. doi: 10.1016\/j.ydbio.2008.02.010","journal-title":"Dev Biol"},{"key":"10_CR16","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/ng1294-328","volume":"8","author":"PT Brook-Carter","year":"1994","unstructured":"Brook-Carter PT et al (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease\u2014a contiguous gene syndrome. Nat Genet 8:328\u2013332. doi: 10.1038\/ng1294-328","journal-title":"Nat Genet"},{"key":"10_CR17","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1159\/000345577","volume":"4","author":"E Brosens","year":"2013","unstructured":"Brosens E et al (2013) VACTERL association etiology: the impact of de novo and rare copy number variations. Mol Syndromol 4:20\u201326. doi: 10.1159\/000345577","journal-title":"Mol Syndromol"},{"key":"10_CR18","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1016\/j.devcel.2005.05.016","volume":"9","author":"TJ Carroll","year":"2005","unstructured":"Carroll TJ, Park JS, Hayashi S, Majumdar A, McMahon AP (2005) Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system. Dev Cell 9:283\u2013292. doi: 10.1016\/j.devcel.2005.05.016","journal-title":"Dev Cell"},{"key":"10_CR19","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1007\/s00467-014-2962-9","volume":"30","author":"G Caruana","year":"2015","unstructured":"Caruana G et al (2015) Copy-number variation associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 30:487\u2013495. doi: 10.1007\/s00467-014-2962-9","journal-title":"Pediatr Nephrol"},{"issue":"10","key":"10_CR20","doi-asserted-by":"publisher","first-page":"e25641","DOI":"10.1371\/journal.pone.0025641","volume":"6","author":"Anne-Amandine Chassot","year":"2011","unstructured":"Chassot AA et al (2011) RSPO1\/\u03b2-catenin signaling pathway regulates oogonia differentiation and entry into meiosis in the mouse fetal ovary. PLoS One 6. doi: 10.1371\/journal.pone.0025641","journal-title":"PLoS ONE"},{"key":"10_CR21","doi-asserted-by":"publisher","first-page":"1725","DOI":"10.1007\/s00439-012-1181-3","volume":"131","author":"R Chatterjee","year":"2012","unstructured":"Chatterjee R et al (2012) Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations. Hum Genet 131:1725\u20131738. doi: 10.1007\/s00439-012-1181-3","journal-title":"Hum Genet"},{"key":"10_CR22","doi-asserted-by":"publisher","first-page":"1961","DOI":"10.2741\/1671","volume":"10","author":"L Chen","year":"2005","unstructured":"Chen L, Deng CX (2005) Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci J Virtual Libr 10:1961\u20131976","journal-title":"Front Biosci J Virtual Libr"},{"key":"10_CR23","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1016\/S0092-8674(00)80481-X","volume":"91","author":"R Chen","year":"1997","unstructured":"Chen R, Amoui M, Zhang Z, Mardon G (1997) Dachshund and eyes absent proteins form a complex and function synergistically to induce ectopic eye development in Drosophila. Cell 91:893\u2013903","journal-title":"Cell"},{"key":"10_CR24","doi-asserted-by":"publisher","first-page":"5031","DOI":"10.1242\/dev.00697","volume":"130","author":"HT Cheng","year":"2003","unstructured":"Cheng HT et al (2003) Gamma-secretase activity is dispensable for mesenchyme-to-epithelium transition but required for podocyte and proximal tubule formation in developing mouse kidney. Development 130:5031\u20135042. doi: 10.1242\/dev.00697","journal-title":"Development"},{"key":"10_CR25","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1038\/nrneph.2014.232","volume":"11","author":"RL Clissold","year":"2014","unstructured":"Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C (2014) HNF1B-associated renal and extra-renal disease\u2014an expanding clinical spectrum. Nat Rev Nephrol 11:102\u2013112. doi: 10.1038\/nrneph.2014.232","journal-title":"Nat Rev Nephrol"},{"key":"10_CR26","doi-asserted-by":"publisher","first-page":"252","DOI":"10.4161\/org.6.4.12680","volume":"6","author":"F Costantini","year":"2010","unstructured":"Costantini F (2010) GDNF\/Ret signaling and renal branching morphogenesis: from mesenchymal signals to epithelial cell behaviors. Organogenesis 6:252\u2013262. doi: 10.4161\/org.6.4.12680","journal-title":"Organogenesis"},{"key":"10_CR27","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1002\/bies.20357","volume":"28","author":"F Costantini","year":"2006","unstructured":"Costantini F, Shakya R (2006) GDNF\/Ret signaling and the development of the kidney. Bioessays 28:117\u2013127. doi: 10.1002\/bies.20357","journal-title":"Bioessays"},{"key":"10_CR28","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1056\/NEJMra055323","volume":"355","author":"PB Crino","year":"2006","unstructured":"Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med 355:1345\u20131356. doi: 10.1056\/NEJMra055323","journal-title":"N Engl J Med"},{"key":"10_CR29","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.molcel.2012.06.009","volume":"47","author":"CC Dibble","year":"2012","unstructured":"Dibble CC et al (2012) TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Mol Cell 47:535\u2013546. doi: 10.1016\/j.molcel.2012.06.009","journal-title":"Mol Cell"},{"key":"10_CR30","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1016\/j.pcl.2015.03.005","volume":"62","author":"FJ DiMario","year":"2015","unstructured":"DiMario FJ, Sahin M, Ebrahimi-Fakhari D (2015) Tuberous sclerosis complex. Pediatr Clin N Am 62:633\u2013648. doi: 10.1016\/j.pcl.2015.03.005","journal-title":"Pediatr Clin N Am"},{"key":"10_CR31","doi-asserted-by":"publisher","first-page":"e15","DOI":"10.1159\/000320891","volume":"118","author":"BP Dixon","year":"2011","unstructured":"Dixon BP, Hulbert JC, Bissler JJ (2011) Tuberous sclerosis complex renal disease. Nephron Exp Nephrol 118:e15\u2013e20. doi: 10.1159\/000320891","journal-title":"Nephron Exp Nephrol"},{"key":"10_CR32","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1136\/jmg.2005.032854","volume":"43","author":"EL Edghill","year":"2006","unstructured":"Edghill EL, Bingham C, Ellard S, Hattersley AT (2006) Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 43:84\u201390. doi: 10.1136\/jmg.2005.032854","journal-title":"J Med Genet"},{"issue":"3","key":"10_CR33","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1053\/jpsu.2003.50081","volume":"38","author":"J. Gillick","year":"2003","unstructured":"Gillick J, Mooney E, Giles S, Bannigan J, Puri P (2003) Notochord anomalies in the adriamycin rat model: a morphologic and molecular basis for the VACTERL association. J Pediatr Surg 38, 469\u2013473; discussion 469\u2013473. doi: 10.1053\/jpsu.2003.50081","journal-title":"Journal of Pediatric Surgery"},{"key":"10_CR34","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1038\/sj.emboj.7600160","volume":"23","author":"L Gresh","year":"2004","unstructured":"Gresh L et al (2004) A transcriptional network in polycystic kidney disease. EMBO J 23:1657\u20131668. doi: 10.1038\/sj.emboj.7600160","journal-title":"EMBO J"},{"key":"10_CR35","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1681\/asn.2013070764","volume":"26","author":"Q Guo","year":"2015","unstructured":"Guo Q et al (2015) Adam10 mediates the choice between principal cells and intercalated cells in the kidney. J Am Soc Nephrol JASN 26:149\u2013159. doi: 10.1681\/asn.2013070764","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR36","doi-asserted-by":"publisher","first-page":"2077","DOI":"10.1016\/j.juro.2009.12.095","volume":"183","author":"DS Hains","year":"2010","unstructured":"Hains DS et al (2010) High incidence of vesicoureteral reflux in mice with Fgfr2 deletion in kidney mesenchyma. J Urol 183:2077\u20132084. doi: 10.1016\/j.juro.2009.12.095","journal-title":"J Urol"},{"key":"10_CR37","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1136\/jmedgenet-2012-101288","volume":"50","author":"GR Handrigan","year":"2013","unstructured":"Handrigan GR et al (2013) Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet 50:163\u2013173. doi: 10.1136\/jmedgenet-2012-101288","journal-title":"J Med Genet"},{"key":"10_CR38","doi-asserted-by":"publisher","first-page":"1604","DOI":"10.1093\/cercor\/bhm191","volume":"18","author":"SJ Harrison","year":"2008","unstructured":"Harrison SJ, Nishinakamura R, Monaghan AP (2008) Sall1 regulates mitral cell development and olfactory nerve extension in the developing olfactory bulb. Cereb Cortex (New York, N.Y.: 1991) 18:1604\u20131617. doi: 10.1093\/cercor\/bhm191","journal-title":"Cereb Cortex (New York, N.Y.: 1991)"},{"key":"10_CR39","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1093\/hmg\/ddn325","volume":"18","author":"TR Hartman","year":"2009","unstructured":"Hartman TR et al (2009) The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. Hum Mol Genet 18:151\u2013163. doi: 10.1093\/hmg\/ddn325","journal-title":"Hum Mol Genet"},{"key":"10_CR40","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.2215\/cjn.06810909","volume":"5","author":"L Heidet","year":"2010","unstructured":"Heidet L et al (2010) Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol CJASN 5:1079\u20131090. doi: 10.2215\/cjn.06810909","journal-title":"Clin J Am Soc Nephrol CJASN"},{"key":"10_CR41","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1038\/ejhg.2013.58","volume":"21","author":"A Hilger","year":"2013","unstructured":"Hilger A et al (2013) De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER\/VACTERL association. Eur J Hum Genet EJHG 21:1377\u20131382. doi: 10.1038\/ejhg.2013.58","journal-title":"Eur J Hum Genet EJHG"},{"key":"10_CR42","doi-asserted-by":"publisher","first-page":"2089","DOI":"10.1093\/hmg\/ddm156","volume":"16","author":"P Hill","year":"2007","unstructured":"Hill P, Wang B, Ruther U (2007) The molecular basis of Pallister Hall associated polydactyly. Hum Mol Genet 16:2089\u20132096. doi: 10.1093\/hmg\/ddm156","journal-title":"Hum Mol Genet"},{"key":"10_CR43","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1002\/dvdy.24389","volume":"245","author":"EA Hines","year":"2016","unstructured":"Hines EA et al (2016) Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis. Dev Dyn Off Publ Am Assoc Anat 245:497\u2013507. doi: 10.1002\/dvdy.24389","journal-title":"Dev Dyn Off Publ Am Assoc Anat"},{"key":"10_CR44","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1007\/s00383-014-3529-3","volume":"30","author":"AD Hofmann","year":"2014","unstructured":"Hofmann AD, Duess JW, Puri P (2014) Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung\u2019s disease: a systematic review. Pediatr Surg Int 30:757\u2013761. doi: 10.1007\/s00383-014-3529-3","journal-title":"Pediatr Surg Int"},{"key":"10_CR45","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1038\/ng1297-384","volume":"17","author":"Y Horikawa","year":"1997","unstructured":"Horikawa Y et al (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17:384\u2013385. doi: 10.1038\/ng1297-384","journal-title":"Nat Genet"},{"key":"10_CR46","doi-asserted-by":"publisher","first-page":"800","DOI":"10.1086\/513322","volume":"80","author":"BE Hoskins","year":"2007","unstructured":"Hoskins BE et al (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 80:800\u2013804. doi: 10.1086\/513322","journal-title":"Am J Hum Genet"},{"key":"10_CR47","doi-asserted-by":"publisher","first-page":"1429","DOI":"10.1038\/ki.2013.508","volume":"85","author":"DY Hwang","year":"2014","unstructured":"Hwang DY et al (2014) Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int 85:1429\u20131433. doi: 10.1038\/ki.2013.508","journal-title":"Kidney Int"},{"key":"10_CR48","doi-asserted-by":"publisher","first-page":"F494","DOI":"10.1152\/ajprenal.00416.2006","volume":"293","author":"DM Iglesias","year":"2007","unstructured":"Iglesias DM et al (2007) Canonical WNT signaling during kidney development. Am J Physiol Renal Physiol 293:F494\u2013F500. doi: 10.1152\/ajprenal.00416.2006","journal-title":"Am J Physiol Renal Physiol"},{"key":"10_CR49","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1038\/ncb839","volume":"4","author":"K Inoki","year":"2002","unstructured":"Inoki K, Li Y, Zhu T, Wu J, Guan K-L (2002) TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol 4:648\u2013657. doi: 10.1038\/ncb839","journal-title":"Nat Cell Biol"},{"key":"10_CR50","doi-asserted-by":"publisher","first-page":"2144","DOI":"10.2337\/diacare.21.12.2144","volume":"21","author":"N Iwasaki","year":"1998","unstructured":"Iwasaki N et al (1998) Liver and kidney function in Japanese patients with maturity-onset diabetes of the young. Diabetes Care 21:2144\u20132148","journal-title":"Diabetes Care"},{"key":"10_CR51","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1136\/jmg.2010.088526","volume":"48","author":"C Jeanpierre","year":"2011","unstructured":"Jeanpierre C et al (2011) RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. J Med Genet 48:497\u2013504. doi: 10.1136\/jmg.2010.088526","journal-title":"J Med Genet"},{"key":"10_CR52","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1080\/15513810600788764","volume":"25","author":"N Kakkar","year":"2006","unstructured":"Kakkar N, Menon S, Radotra BD (2006) Histomorphology of renal dysplasia\u2014an autopsy study. Fetal Pediatr Pathol 25:73\u201386. doi: 10.1080\/15513810600788764","journal-title":"Fetal Pediatr Pathol"},{"key":"10_CR53","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1038\/nrneph.2013.102","volume":"9","author":"BM Kamath","year":"2013","unstructured":"Kamath BM, Spinner NB, Rosenblum ND (2013) Renal involvement and the role of Notch signalling in Alagille syndrome. Nat Rev Nephrol 9:409\u2013418. doi: 10.1038\/nrneph.2013.102","journal-title":"Nat Rev Nephrol"},{"key":"10_CR54","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1002\/ajmg.a.34369","volume":"158A","author":"BM Kamath","year":"2012","unstructured":"Kamath BM et al (2012) Renal anomalies in Alagille syndrome: a disease-defining feature. Am J Med Genet A 158A:85\u201389. doi: 10.1002\/ajmg.a.34369","journal-title":"Am J Med Genet A"},{"key":"10_CR55","doi-asserted-by":"publisher","first-page":"2584","DOI":"10.1681\/asn.2013080896","volume":"25","author":"S Kanda","year":"2014","unstructured":"Kanda S et al (2014) Sall1 maintains nephron progenitors and nascent nephrons by acting as both an activator and a repressor. J Am Soc Nephrol JASN 25:2584\u20132595. doi: 10.1681\/asn.2013080896","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR56","doi-asserted-by":"publisher","first-page":"2221","DOI":"10.1093\/hmg\/ddg233","volume":"12","author":"SM Kiefer","year":"2003","unstructured":"Kiefer SM et al (2003) Expression of a truncated Sall1 transcriptional repressor is responsible for Townes\u2013Brocks syndrome birth defects. Hum Mol Genet 12:2221\u20132227. doi: 10.1093\/hmg\/ddg233","journal-title":"Hum Mol Genet"},{"key":"10_CR57","doi-asserted-by":"publisher","first-page":"3099","DOI":"10.1242\/dev.037812","volume":"137","author":"SM Kiefer","year":"2010","unstructured":"Kiefer SM et al (2010) Sall1-dependent signals affect Wnt signaling and ureter tip fate to initiate kidney development. Development 137:3099\u20133106. doi: 10.1242\/dev.037812","journal-title":"Development"},{"key":"10_CR58","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1034\/j.1399-0004.2001.590503.x","volume":"59","author":"J Kim","year":"2001","unstructured":"Kim J, Kim P, Hui CC (2001a) The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet 59:306\u2013315","journal-title":"Clin Genet"},{"key":"10_CR59","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1053\/jpsu.2001.20722","volume":"36","author":"PC Kim","year":"2001","unstructured":"Kim PC, Mo R, Hui CC (2001b) Murine models of VACTERL syndrome: role of sonic hedgehog signaling pathway. J Pediatr Surg 36:381\u2013384","journal-title":"J Pediatr Surg"},{"issue":"2","key":"10_CR60","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1159\/000448293","volume":"134","author":"J. Chris Kingswood","year":"2016","unstructured":"Kingswood JC et al (2016) Review of the tuberous sclerosis renal guidelines from the 2012 consensus conference: current data and future study. Nephron 133. doi: 10.1159\/000448293","journal-title":"Nephron"},{"key":"10_CR61","doi-asserted-by":"publisher","first-page":"1917","DOI":"10.1681\/asn.2013101103","volume":"25","author":"S Kohl","year":"2014","unstructured":"Kohl S et al (2014) Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol JASN 25:1917\u20131922. doi: 10.1681\/asn.2013101103","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR62","unstructured":"Kohlhase J (1993) In: Pagon RA et al (eds) GeneReviews(R). University of Washington, Seattle University of Washington, Seattle"},{"key":"10_CR63","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1681\/ASN.V12102175","volume":"12","author":"M Kolatsi-Joannou","year":"2001","unstructured":"Kolatsi-Joannou M et al (2001) Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol JASN 12:2175\u20132180","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR64","doi-asserted-by":"publisher","first-page":"a011213","DOI":"10.1101\/cshperspect.a011213","volume":"4","author":"R Kopan","year":"2012","unstructured":"Kopan R (2012) Notch signaling. Cold Spring Harb Perspect Biol 4:a011213. doi: 10.1101\/cshperspect.a011213","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"10_CR65","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1101\/gad.14.11.1343","volume":"14","author":"LT Krebs","year":"2000","unstructured":"Krebs LT et al (2000) Notch signaling is essential for vascular morphogenesis in mice. Genes Dev 14:1343\u20131352","journal-title":"Genes Dev"},{"key":"10_CR66","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1056\/NEJMoa1001671","volume":"363","author":"DA Krueger","year":"2010","unstructured":"Krueger DA et al (2010) Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 363:1801\u20131811. doi: 10.1056\/NEJMoa1001671","journal-title":"N Engl J Med"},{"key":"10_CR67","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1002\/mrd.20491","volume":"74","author":"D Lahiri","year":"2007","unstructured":"Lahiri D et al (2007) Nephropathy and defective spermatogenesis in mice transgenic for a single isoform of the Wilms\u2019 tumour suppressor protein, WT1-KTS, together with one disrupted Wt1 allele. Mol Reprod Dev 74:300\u2013311. doi: 10.1002\/mrd.20491","journal-title":"Mol Reprod Dev"},{"key":"10_CR68","doi-asserted-by":"publisher","first-page":"5764","DOI":"10.1128\/mcb.01645-09","volume":"30","author":"K Landgraf","year":"2010","unstructured":"Landgraf K et al (2010) Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development. Mol Cell Biol 30:5764\u20135775. doi: 10.1128\/mcb.01645-09","journal-title":"Mol Cell Biol"},{"key":"10_CR69","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1038\/ki.2015.140","volume":"88","author":"J Lefebvre","year":"2015","unstructured":"Lefebvre J et al (2015) Alternatively spliced isoforms of WT1 control podocyte-specific gene expression. Kidney Int 88:321\u2013331. doi: 10.1038\/ki.2015.140","journal-title":"Kidney Int"},{"key":"10_CR70","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1042\/bc20090098","volume":"102","author":"Y Li","year":"2010","unstructured":"Li Y, Manaligod J, Weeks D (2010) EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. Biol Cell 102:277\u2013292. doi: 10.1042\/bc20090098","journal-title":"Biol Cell"},{"key":"10_CR71","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1242\/dev.042226","volume":"137","author":"L Lokmane","year":"2010","unstructured":"Lokmane L, Heliot C, Garcia-Villalba P, Fabre M, Cereghini S (2010) vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Development 137:347\u2013357. doi: 10.1242\/dev.042226","journal-title":"Development"},{"key":"10_CR72","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1016\/j.devcel.2012.01.006","volume":"22","author":"J Lopez-Rios","year":"2012","unstructured":"Lopez-Rios J et al (2012) GLI3 constrains digit number by controlling both progenitor proliferation and BMP-dependent exit to chondrogenesis. Dev Cell 22:837\u2013848. doi: 10.1016\/j.devcel.2012.01.006","journal-title":"Dev Cell"},{"key":"10_CR73","doi-asserted-by":"publisher","first-page":"2582","DOI":"10.1002\/ajmg.a.37238","volume":"167a","author":"M Lubinsky","year":"2015","unstructured":"Lubinsky M (2015) The VACTERL Association as a disturbance of cell fate determination. Am J Med Genet Part A 167a:2582\u20132588. doi: 10.1002\/ajmg.a.37238","journal-title":"Am J Med Genet Part A"},{"key":"10_CR74","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.2215\/cjn.10221012","volume":"8","author":"L Madariaga","year":"2013","unstructured":"Madariaga L et al (2013) Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin J Am Soc Nephrol CJASN 8:1179\u20131187. doi: 10.2215\/cjn.10221012","journal-title":"Clin J Am Soc Nephrol CJASN"},{"key":"10_CR75","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.ajhg.2007.08.005","volume":"82","author":"H Mandel","year":"2008","unstructured":"Mandel H et al (2008) SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet 82:39\u201347. doi: 10.1016\/j.ajhg.2007.08.005","journal-title":"Am J Hum Genet"},{"key":"10_CR76","doi-asserted-by":"publisher","first-page":"2029","DOI":"10.12688\/f1000research.9045.1","volume":"5","author":"Zhiguo Mao","year":"2016","unstructured":"Mao Z, Chong J, Ong ACM (2016) Autosomal dominant polycystic kidney disease: recent advances in clinical management. F1000Research 5. doi: 10.12688\/f1000research.9045.1","journal-title":"F1000Research"},{"key":"10_CR77","doi-asserted-by":"publisher","first-page":"888","DOI":"10.1002\/jcb.20582","volume":"96","author":"PJ Marie","year":"2005","unstructured":"Marie PJ, Coffin JD, Hurley MM (2005) FGF and FGFR signaling in chondrodysplasias and craniosynostosis. J Cell Biochem 96:888\u2013896. doi: 10.1002\/jcb.20582","journal-title":"J Cell Biochem"},{"key":"10_CR78","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1053\/jpsu.2000.7763","volume":"35","author":"G Martucciello","year":"2000","unstructured":"Martucciello G, Ceccherini I, Lerone M, Jasonni V (2000) Special basic science review: pathogenesis of Hirschsprung\u2019s disease. J Pediatr Surg 35:1017\u20131025. doi: 10.1053\/jpsu.2000.7763","journal-title":"J Pediatr Surg"},{"key":"10_CR79","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1007\/s00467-013-2625-2","volume":"29","author":"A Materna-Kiryluk","year":"2014","unstructured":"Materna-Kiryluk A et al (2014) The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1. Pediatr Nephrol 29:257\u2013267. doi: 10.1007\/s00467-013-2625-2","journal-title":"Pediatr Nephrol"},{"key":"10_CR80","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1097\/01.mnh.0000049802.69874.c0","volume":"12","author":"B McCright","year":"2003","unstructured":"McCright B (2003) Notch signaling in kidney development. Curr Opin Nephrol Hypertens 12:5\u201310. doi: 10.1097\/01.mnh.0000049802.69874.c0","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"10_CR81","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1242\/dev.128.4.491","volume":"128","author":"B McCright","year":"2001","unstructured":"McCright B et al (2001) Defects in development of the kidney, heart and eye vasculature in mice homozygous for a hypomorphic Notch2 mutation. Development 128:491\u2013502","journal-title":"Development"},{"key":"10_CR82","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1101\/gad.5.6.1042","volume":"5","author":"DB Mendel","year":"1991","unstructured":"Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR (1991) HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro. Genes Dev 5:1042\u20131056","journal-title":"Genes Dev"},{"key":"10_CR83","doi-asserted-by":"publisher","first-page":"e1000809","DOI":"10.1371\/journal.pgen.1000809","volume":"6","author":"O Michos","year":"2010","unstructured":"Michos O et al (2010) Kidney development in the absence of Gdnf and Spry1 requires Fgf10. PLoS Genet 6:e1000809. doi: 10.1371\/journal.pgen.1000809","journal-title":"PLoS Genet"},{"key":"10_CR84","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/j.yjmcc.2016.02.008","volume":"92","author":"Y Morita","year":"2016","unstructured":"Morita Y et al (2016) Sall1 transiently marks undifferentiated heart precursors and regulates their fate. J Mol Cell Cardiol 92:158\u2013162. doi: 10.1016\/j.yjmcc.2016.02.008","journal-title":"J Mol Cell Cardiol"},{"key":"10_CR85","doi-asserted-by":"publisher","first-page":"F12","DOI":"10.1152\/ajprenal.00597.2007","volume":"295","author":"AA Morrison","year":"2008","unstructured":"Morrison AA, Viney RL, Saleem MA, Ladomery MR (2008) New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes. Am J Physiol Renal Physiol 295:F12\u2013F17. doi: 10.1152\/ajprenal.00597.2007","journal-title":"Am J Physiol Renal Physiol"},{"issue":"7","key":"10_CR86","doi-asserted-by":"publisher","first-page":"e1003630","DOI":"10.1371\/journal.pgen.1003630","volume":"9","author":"Steven C. Munger","year":"2013","unstructured":"Munger SC, Natarajan A, Looger LL, Ohler U, Capel B (2013) Fine time course expression analysis identifies cascades of activation and repression and maps a putative regulator of mammalian sex determination. PLoS Genet 9. doi: 10.1371\/journal.pgen.1003630","journal-title":"PLoS Genetics"},{"key":"10_CR87","unstructured":"North American Pediatric Renal Trials and Collaborative Studies\u00a0(2011) NAPRTCS 2011 annual dialysis report. The National Institute of Diabetes and Digestive and Kidney Diseases, pp 1\u201326"},{"key":"10_CR88","doi-asserted-by":"crossref","first-page":"5151","DOI":"10.1242\/dev.129.22.5151","volume":"129","author":"D Natarajan","year":"2002","unstructured":"Natarajan D, Marcos-Gutierrez C, Pachnis V, de Graaff E (2002) Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis. Development 129:5151\u20135160","journal-title":"Development"},{"key":"10_CR89","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1159\/000345725","volume":"4","author":"ES Ngan","year":"2013","unstructured":"Ngan ES, Kim KH, Hui CC (2013) Sonic hedgehog signaling and VACTERL association. Mol Syndromol 4:32\u201345. doi: 10.1159\/000345725","journal-title":"Mol Syndromol"},{"key":"10_CR90","doi-asserted-by":"crossref","first-page":"3105","DOI":"10.1242\/dev.128.16.3105","volume":"128","author":"R Nishinakamura","year":"2001","unstructured":"Nishinakamura R et al (2001) Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development 128:3105\u20133115","journal-title":"Development"},{"key":"10_CR91","doi-asserted-by":"publisher","first-page":"3096","DOI":"10.1128\/mcb.00491-14","volume":"34","author":"M Nishita","year":"2014","unstructured":"Nishita M et al (2014) Role of Wnt5a-Ror2 signaling in morphogenesis of the metanephric mesenchyme during ureteric budding. Mol Cell Biol 34:3096\u20133105. doi: 10.1128\/mcb.00491-14","journal-title":"Mol Cell Biol"},{"key":"10_CR92","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1242\/dev.127175","volume":"143","author":"LL O\u2019Brien","year":"2016","unstructured":"O\u2019Brien LL et al (2016) Differential regulation of mouse and human nephron progenitors by the Six family of transcriptional regulators. Development 143:595\u2013608. doi: 10.1242\/dev.127175","journal-title":"Development"},{"key":"10_CR93","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1016\/j.devcel.2012.07.008","volume":"23","author":"JS Park","year":"2012","unstructured":"Park JS et al (2012) Six2 and Wnt regulate self-renewal and commitment of nephron progenitors through shared gene regulatory networks. Dev Cell 23:637\u2013651. doi: 10.1016\/j.devcel.2012.07.008","journal-title":"Dev Cell"},{"key":"10_CR94","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1002\/(sici)1098-1004(1999)14:2<115::aid-humu3>3.0.co;2-2","volume":"14","author":"MR Passos-Bueno","year":"1999","unstructured":"Passos-Bueno MR et al (1999) Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 14:115\u2013125. doi: 10.1002\/(sici)1098-1004(1999)14:2<115::aid-humu3>3.0.co;2-2","journal-title":"Hum Mutat"},{"key":"10_CR95","doi-asserted-by":"publisher","first-page":"2379","DOI":"10.1093\/hmg\/ddg240","volume":"12","author":"CE Patek","year":"2003","unstructured":"Patek CE et al (2003) Murine Denys\u2013Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis. Hum Mol Genet 12:2379\u20132394. doi: 10.1093\/hmg\/ddg240","journal-title":"Hum Mol Genet"},{"key":"10_CR96","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1016\/j.biocel.2010.12.016","volume":"43","author":"E Pavlakis","year":"2011","unstructured":"Pavlakis E, Chiotaki R, Chalepakis G (2011) The role of Fras1\/Frem proteins in the structure and function of basement membrane. Int J Biochem Cell Biol 43:487\u2013495. doi: 10.1016\/j.biocel.2010.12.016","journal-title":"Int J Biochem Cell Biol"},{"key":"10_CR97","doi-asserted-by":"publisher","first-page":"10786","DOI":"10.1038\/ncomms10786","volume":"7","author":"M Pema","year":"2016","unstructured":"Pema M et al (2016) mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex. Nat Commun 7:10786. doi: 10.1038\/ncomms10786","journal-title":"Nat Commun"},{"key":"10_CR98","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1016\/S0092-8674(00)80480-8","volume":"91","author":"F Pignoni","year":"1997","unstructured":"Pignoni F et al (1997) The eye-specification proteins So and Eya form a complex and regulate multiple steps in Drosophila eye development. Cell 91:881\u2013891","journal-title":"Cell"},{"key":"10_CR99","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1097\/MD.0b013e31819cf5da","volume":"88","author":"A Pini Prato","year":"2009","unstructured":"Pini Prato A et al (2009) Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. Medicine 88:83\u201390. doi: 10.1097\/MD.0b013e31819cf5da","journal-title":"Medicine"},{"key":"10_CR100","doi-asserted-by":"publisher","first-page":"3953","DOI":"10.1093\/hmg\/ddn297","volume":"17","author":"JE Pitera","year":"2008","unstructured":"Pitera JE, Scambler PJ, Woolf AS (2008) Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. Hum Mol Genet 17:3953\u20133964. doi: 10.1093\/hmg\/ddn297","journal-title":"Hum Mol Genet"},{"key":"10_CR101","doi-asserted-by":"publisher","first-page":"1790","DOI":"10.1681\/asn.2012020146","volume":"23","author":"JE Pitera","year":"2012","unstructured":"Pitera JE, Woolf AS, Basson MA, Scambler PJ (2012) Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. J Am Soc Nephrol JASN 23:1790\u20131796. doi: 10.1681\/asn.2012020146","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR102","first-page":"4766","volume":"58","author":"TL Plank","year":"1998","unstructured":"Plank TL, Yeung RS, Henske EP (1998) Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res 58:4766\u20134770","journal-title":"Cancer Res"},{"key":"10_CR103","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/j.ydbio.2005.12.034","volume":"291","author":"DP Poladia","year":"2006","unstructured":"Poladia DP et al (2006) Role of fibroblast growth factor receptors 1 and 2 in the metanephric mesenchyme. Dev Biol 291:325\u2013339. doi: 10.1016\/j.ydbio.2005.12.034","journal-title":"Dev Biol"},{"key":"10_CR104","doi-asserted-by":"publisher","first-page":"1777","DOI":"10.1038\/sj.ki.5001853","volume":"70","author":"SK Rakowski","year":"2006","unstructured":"Rakowski SK et al (2006) Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney Int 70:1777\u20131782. doi: 10.1038\/sj.ki.5001853","journal-title":"Kidney Int"},{"key":"10_CR105","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1016\/j.semnephrol.2009.03.009","volume":"29","author":"KJ Reidy","year":"2009","unstructured":"Reidy KJ, Rosenblum ND (2009) Cell and molecular biology of kidney development. Semin Nephrol 29:321\u2013337. doi: 10.1016\/j.semnephrol.2009.03.009","journal-title":"Semin Nephrol"},{"key":"10_CR106","doi-asserted-by":"publisher","first-page":"e1002382","DOI":"10.1371\/journal.pbio.1002382","volume":"14","author":"P Riccio","year":"2016","unstructured":"Riccio P, Cebrian C, Zong H, Hippenmeyer S, Costantini F (2016) Ret and Etv4 promote directed movements of progenitor cells during renal branching morphogenesis. PLoS Biol 14:e1002382. doi: 10.1371\/journal.pbio.1002382","journal-title":"PLoS Biol"},{"key":"10_CR107","doi-asserted-by":"publisher","first-page":"8090","DOI":"10.1073\/pnas.0308475101","volume":"101","author":"RG Ruf","year":"2004","unstructured":"Ruf RG et al (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1\u2013SIX1\u2013DNA complexes. Proc Natl Acad Sci USA 101:8090\u20138095. doi: 10.1073\/pnas.0308475101","journal-title":"Proc Natl Acad Sci USA"},{"key":"10_CR108","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1681\/asn.2014050489","volume":"26","author":"CE Sadowski","year":"2015","unstructured":"Sadowski CE et al (2015) A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol JASN 26:1279\u20131289. doi: 10.1681\/asn.2014050489","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR109","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1038\/ki.2013.417","volume":"85","author":"P Saisawat","year":"2014","unstructured":"Saisawat P et al (2014) Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int 85:1310\u20131317. doi: 10.1038\/ki.2013.417","journal-title":"Kidney Int"},{"key":"10_CR110","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/j.ydbio.2005.05.029","volume":"284","author":"G Sajithlal","year":"2005","unstructured":"Sajithlal G, Zou D, Silvius D, Xu PX (2005) Eya 1 acts as a critical regulator for specifying the metanephric mesenchyme. Dev Biol 284:323\u2013336. doi: 10.1016\/j.ydbio.2005.05.029","journal-title":"Dev Biol"},{"key":"10_CR111","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1016\/j.ajhg.2012.10.007","volume":"91","author":"S Sanna-Cherchi","year":"2012","unstructured":"Sanna-Cherchi S et al (2012) Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet 91:987\u2013997. doi: 10.1016\/j.ajhg.2012.10.007","journal-title":"Am J Hum Genet"},{"key":"10_CR112","doi-asserted-by":"publisher","first-page":"2686","DOI":"10.1242\/dev.123968","volume":"142","author":"J Schneider","year":"2015","unstructured":"Schneider J, Arraf AA, Grinstein M, Yelin R, Schultheiss TM (2015) Wnt signaling orients the proximal-distal axis of chick kidney nephrons. Development 142:2686\u20132695. doi: 10.1242\/dev.123968","journal-title":"Development"},{"key":"10_CR113","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1242\/dev.122.6.1919","volume":"122","author":"A Schuchardt","year":"1996","unstructured":"Schuchardt A, D\u2019Agati V, Pachnis V, Costantini F (1996) Renal agenesis and hypodysplasia in ret-k-mutant mice result from defects in ureteric bud development. Development 122:1919\u20131929","journal-title":"Development"},{"key":"10_CR114","first-page":"200","volume":"5","author":"A Seyedzadeh","year":"2008","unstructured":"Seyedzadeh A, Kompani F, Esmailie E, Samadzadeh S, Farshchi B (2008) High-grade vesicoureteral reflux in Pfeiffer syndrome. Urol J 5:200\u2013202","journal-title":"Urol J"},{"key":"10_CR115","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.devcel.2004.11.008","volume":"8","author":"R Shakya","year":"2005","unstructured":"Shakya R, Watanabe T, Costantini F (2005) The role of GDNF\/Ret signaling in ureteric bud cell fate and branching morphogenesis. Dev Cell 8:65\u201374. doi: 10.1016\/j.devcel.2004.11.008","journal-title":"Dev Cell"},{"key":"10_CR116","doi-asserted-by":"publisher","first-page":"5466","DOI":"10.1073\/pnas.0509694103","volume":"103","author":"JM Shillingford","year":"2006","unstructured":"Shillingford JM et al (2006) The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci USA 103:5466\u20135471. doi: 10.1073\/pnas.0509694103","journal-title":"Proc Natl Acad Sci USA"},{"key":"10_CR117","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1007\/s00467-010-1689-5","volume":"26","author":"BJ Siroky","year":"2011","unstructured":"Siroky BJ, Yin H, Bissler JJ (2011) Clinical and molecular insights into tuberous sclerosis complex renal disease. Pediatr Nephrol 26:839\u2013852. doi: 10.1007\/s00467-010-1689-5","journal-title":"Pediatr Nephrol"},{"key":"10_CR118","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/j.devcel.2010.01.011","volume":"18","author":"K Si-Tayeb","year":"2010","unstructured":"Si-Tayeb K, Lemaigre FP, Duncan SA (2010) Organogenesis and development of the liver. Dev Cell 18:175\u2013189. doi: 10.1016\/j.devcel.2010.01.011","journal-title":"Dev Cell"},{"key":"10_CR119","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1007\/s00467-010-1629-4","volume":"26","author":"R Song","year":"2011","unstructured":"Song R, Yosypiv IV (2011) Genetics of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 26:353\u2013364. doi: 10.1007\/s00467-010-1629-4","journal-title":"Pediatr Nephrol"},{"key":"10_CR120","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1038\/372679a0","volume":"372","author":"K Stark","year":"1994","unstructured":"Stark K, Vainio S, Vassileva G, McMahon AP (1994) Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4. Nature 372:679\u2013683. doi: 10.1038\/372679a0","journal-title":"Nature"},{"key":"10_CR121","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/j.ejmg.2014.04.014","volume":"57","author":"C Stoll","year":"2014","unstructured":"Stoll C, Dott B, Alembik Y, Roth MP (2014) Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT). Eur J Med Genet 57:322\u2013328. doi: 10.1016\/j.ejmg.2014.04.014","journal-title":"Eur J Med Genet"},{"key":"10_CR122","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1016\/j.ejmg.2015.11.003","volume":"58","author":"C Stoll","year":"2015","unstructured":"Stoll C, Dott B, Alembik Y, Roth MP (2015) Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet 58:674\u2013680. doi: 10.1016\/j.ejmg.2015.11.003","journal-title":"Eur J Med Genet"},{"key":"10_CR123","doi-asserted-by":"publisher","first-page":"14003","DOI":"10.1038\/boneres.2014.3","volume":"2","author":"N Su","year":"2014","unstructured":"Su N, Jin M, Chen L (2014) Role of FGF\/FGFR signaling in skeletal development and homeostasis: learning from mouse models. Bone Res 2:14003. doi: 10.1038\/boneres.2014.3","journal-title":"Bone Res"},{"key":"10_CR124","doi-asserted-by":"publisher","first-page":"1897","DOI":"10.1007\/s00018-012-1144-9","volume":"70","author":"E Tadjuidje","year":"2013","unstructured":"Tadjuidje E, Hegde RS (2013) The eyes absent proteins in development and disease. Cell Mol Life Sci 70:1897\u20131913. doi: 10.1007\/s00018-012-1144-9","journal-title":"Cell Mol Life Sci"},{"key":"10_CR125","doi-asserted-by":"crossref","first-page":"2785","DOI":"10.1242\/dev.126.12.2785","volume":"126","author":"S Taraviras","year":"1999","unstructured":"Taraviras S et al (1999) Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system. Development 126:2785\u20132797","journal-title":"Development"},{"key":"10_CR126","doi-asserted-by":"publisher","first-page":"13571","DOI":"10.1073\/pnas.202476899","volume":"99","author":"AR Tee","year":"2002","unstructured":"Tee AR et al (2002) Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA 99:13571\u201313576. doi: 10.1073\/pnas.202476899","journal-title":"Proc Natl Acad Sci USA"},{"key":"10_CR127","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1007\/s00467-011-1826-9","volume":"26","author":"R Thomas","year":"2011","unstructured":"Thomas R et al (2011) HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. Pediatr Nephrol 26:897\u2013903. doi: 10.1007\/s00467-011-1826-9","journal-title":"Pediatr Nephrol"},{"key":"10_CR128","doi-asserted-by":"publisher","first-page":"5643","DOI":"10.1073\/pnas.091584598","volume":"98","author":"H Uyttendaele","year":"2001","unstructured":"Uyttendaele H, Ho J, Rossant J, Kitajewski J (2001) Vascular patterning defects associated with expression of activated Notch4 in embryonic endothelium. Proc Natl Acad Sci USA 98:5643\u20135648. doi: 10.1073\/pnas.091584598","journal-title":"Proc Natl Acad Sci USA"},{"key":"10_CR129","first-page":"279","volume":"16","author":"SJ Vainio","year":"2003","unstructured":"Vainio SJ (2003) Nephrogenesis regulated by Wnt signaling. J Nephrol 16:279\u2013285","journal-title":"J Nephrol"},{"key":"10_CR130","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1093\/hmg\/7.6.1053","volume":"7","author":"M Slegtenhorst van","year":"1998","unstructured":"van Slegtenhorst M et al (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7:1053\u20131057","journal-title":"Hum Mol Genet"},{"key":"10_CR131","doi-asserted-by":"publisher","first-page":"2171","DOI":"10.1172\/jci80877","volume":"125","author":"M Verbitsky","year":"2015","unstructured":"Verbitsky M et al (2015) Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest 125:2171\u20132178. doi: 10.1172\/jci80877","journal-title":"J Clin Invest"},{"key":"10_CR132","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1681\/asn.2012010097","volume":"24","author":"A Vivante","year":"2013","unstructured":"Vivante A et al (2013) Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling. J Am Soc Nephrol JASN 24:550\u2013558. doi: 10.1681\/asn.2012010097","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR133","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1002\/dvdy.24234","volume":"244","author":"T Volckaert","year":"2015","unstructured":"Volckaert T, De Langhe SP (2015) Wnt and FGF mediated epithelial-mesenchymal crosstalk during lung development. Dev Dyn Off Publ Am Assoc Anat 244:342\u2013366. doi: 10.1002\/dvdy.24234","journal-title":"Dev Dyn Off Publ Am Assoc Anat"},{"key":"10_CR134","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1002\/humu.20310","volume":"27","author":"DM Warthen","year":"2006","unstructured":"Warthen DM et al (2006) Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat 27:436\u2013443. doi: 10.1002\/humu.20310","journal-title":"Hum Mutat"},{"key":"10_CR135","doi-asserted-by":"publisher","first-page":"2864","DOI":"10.1681\/asn.2006030277","volume":"17","author":"S Weber","year":"2006","unstructured":"Weber S et al (2006) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol JASN 17:2864\u20132870. doi: 10.1681\/asn.2006030277","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR136","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1681\/asn.2006111282","volume":"19","author":"S Weber","year":"2008","unstructured":"Weber S et al (2008) SIX2 and BMP4 mutations associate with anomalous kidney development. J Am Soc Nephrol JASN 19:891\u2013903. doi: 10.1681\/asn.2006111282","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR137","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4807","author":"Q Xi","year":"2016","unstructured":"Xi Q et al (2016) Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. Prenat Diagn. doi: 10.1002\/pd.4807","journal-title":"Prenat Diagn"},{"key":"10_CR138","doi-asserted-by":"publisher","first-page":"11974","DOI":"10.1073\/pnas.94.22.11974","volume":"94","author":"PX Xu","year":"1997","unstructured":"Xu PX, Cheng J, Epstein JA, Maas RL (1997) Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function. Proc Natl Acad Sci USA 94:11974\u201311979","journal-title":"Proc Natl Acad Sci USA"},{"key":"10_CR139","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1038\/12722","volume":"23","author":"PX Xu","year":"1999","unstructured":"Xu PX et al (1999) Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 23:113\u2013117. doi: 10.1038\/12722","journal-title":"Nat Genet"},{"key":"10_CR140","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1016\/j.devcel.2014.10.015","volume":"31","author":"J Xu","year":"2014","unstructured":"Xu J et al (2014) Eya1 interacts with Six2 and Myc to regulate expansion of the nephron progenitor pool during nephrogenesis. Dev Cell 31:434\u2013447. doi: 10.1016\/j.devcel.2014.10.015","journal-title":"Dev Cell"},{"key":"10_CR141","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1093\/hmg\/8.5.723","volume":"8","author":"Y Xue","year":"1999","unstructured":"Xue Y et al (1999) Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Mol Genet 8:723\u2013730","journal-title":"Hum Mol Genet"},{"key":"10_CR142","doi-asserted-by":"publisher","first-page":"2508","DOI":"10.1097\/01.ASN.0000029587.47950.25","volume":"13","author":"BK Yoder","year":"2002","unstructured":"Yoder BK, Hou X, Guay-Woodford LM (2002) The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol JASN 13:2508\u20132516","journal-title":"J Am Soc Nephrol JASN"},{"key":"10_CR143","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1002\/bdra.23278","volume":"100","author":"C Zeidler","year":"2014","unstructured":"Zeidler C et al (2014) Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER\/VACTERL features without limb anomalies. Birth Defects Res A Clin Mol Teratol 100:750\u2013759. doi: 10.1002\/bdra.23278","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"10_CR144","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.ydbio.2004.09.002","volume":"276","author":"H Zhao","year":"2004","unstructured":"Zhao H et al (2004) Role of fibroblast growth factor receptors 1 and 2 in the ureteric bud. Dev Biol 276:403\u2013415. doi: 10.1016\/j.ydbio.2004.09.002","journal-title":"Dev Biol"},{"issue":"2","key":"10_CR145","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1016\/j.ydbio.2006.06.049","volume":"298","author":"Dan Zou","year":"2006","unstructured":"Zou D, Silvius D, Rodrigo-Blomqvist S, Enerb\u00e4ck S, Xu PX (2006) Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear. Dev Biol 298. doi: 10.1016\/j.ydbio.2006.06.049","journal-title":"Developmental Biology"},{"key":"10_CR146","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.jtbi.2015.04.015","volume":"379","author":"VS Zubkov","year":"2015","unstructured":"Zubkov VS et al (2015) A spatially-averaged mathematical model of kidney branching morphogenesis. J Theor Biol 379:24\u201337. doi: 10.1016\/j.jtbi.2015.04.015","journal-title":"J Theor Biol"}],"container-title":["Results and Problems in Cell Differentiation","Kidney Development and Disease"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-319-51436-9_10","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T13:19:15Z","timestamp":1658927955000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-319-51436-9_10"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"ISBN":["9783319514352","9783319514369"],"references-count":146,"URL":"https:\/\/doi.org\/10.1007\/978-3-319-51436-9_10","relation":{},"ISSN":["0080-1844","1861-0412"],"issn-type":[{"value":"0080-1844","type":"print"},{"value":"1861-0412","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}