{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T08:25:10Z","timestamp":1759479910034},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"JSPS KAKENHI","award":["26462421"],"award-info":[{"award-number":["26462421"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Urol"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s12894-017-0300-9","type":"journal-article","created":{"date-parts":[[2017,12,2]],"date-time":"2017-12-02T07:22:53Z","timestamp":1512199373000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Involvement of the bone morphogenic protein\/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism"],"prefix":"10.1186","volume":"17","author":[{"given":"Kentaro","family":"Mizuno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Nakane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidenori","family":"Nishio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinobu","family":"Moritoki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideyuki","family":"Kamisawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Kurokawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taiki","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryosuke","family":"Ando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuji","family":"Maruyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahiro","family":"Yasui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaro","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,12,2]]},"reference":[{"key":"300_CR1","doi-asserted-by":"crossref","first-page":"1917","DOI":"10.1681\/ASN.2013101103","volume":"25","author":"S Kohl","year":"2014","unstructured":"Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, et al. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2014;25:1917\u201322.","journal-title":"J Am Soc Nephrol"},{"key":"300_CR2","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s00467-013-2684-4","volume":"29","author":"A Vivante","year":"2014","unstructured":"Vivante A, Kohl S, Hwang DY, Dworschak GC, Hildebrandt F. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol. 2014;29:695\u2013704.","journal-title":"Pediatr Nephrol"},{"key":"300_CR3","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s00467-011-1939-1","volume":"27","author":"J Harambat","year":"2012","unstructured":"Harambat J, van Stralen KJ, Kim JJ, Tizard EJ. Epidemiology of chronic kidney disease in children. Pediatr Nephrol. 2012;27:363\u201373.","journal-title":"Pediatr Nephrol"},{"key":"300_CR4","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1046\/j.1523-1755.2002.00188.x","volume":"61","author":"I Ichikawa","year":"2002","unstructured":"Ichikawa I, Kuwayama F, Pope JC 4th, Stephens FD, Miyazaki Y. Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. Kidney Int. 2002;61:889\u201398.","journal-title":"Kidney Int"},{"key":"300_CR5","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1681\/ASN.2015080962","volume":"28","author":"A Vivante","year":"2017","unstructured":"Vivante A, Hwang DY, Kohl S, Chen J, Shril S, Schulz J, et al. Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract. J Am Soc Nephrol. 2017;28:69\u201375.","journal-title":"J Am Soc Nephrol"},{"key":"300_CR6","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/MD.0b013e31819cf5da","volume":"88","author":"A Pini Prato","year":"2009","unstructured":"Pini Prato A, Musso M, Ceccherini I, Mattioli G, Giunta C, Ghiggeri GM, et al. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. Medicine (Baltimore). 2009;88:83\u201390.","journal-title":"Medicine (Baltimore)"},{"key":"300_CR7","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1038\/ki.2013.417","volume":"85","author":"P Saisawat","year":"2014","unstructured":"Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, et al. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int. 2014;85:1310\u20137.","journal-title":"Kidney Int"},{"key":"300_CR8","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1159\/000444033","volume":"6","author":"F Hadziselimovic","year":"2016","unstructured":"Hadziselimovic F. Involvement of fibroblast growth factors and their receptors in epididymo-testicular descent and maldescent. Mol Syndromol. 2016;6:261\u20137.","journal-title":"Mol Syndromol"},{"key":"300_CR9","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1038\/ki.2013.508","volume":"85","author":"DY Hwang","year":"2014","unstructured":"Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, et al. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 2014;85:1429\u201333.","journal-title":"Kidney Int"},{"key":"300_CR10","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/10364","volume":"22","author":"S Nef","year":"1999","unstructured":"Nef S, Parada LF. Cryptorchidism in mice mutant for Insl3. Nat Genet. 1999;22:295\u20139.","journal-title":"Nat Genet"},{"key":"300_CR11","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1210\/mend.13.5.0272","volume":"13","author":"S Zimmermann","year":"1999","unstructured":"Zimmermann S, Steding G, Emmen JM, Brinkmann AO, Nayernia K, Holstein AF, et al. Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. Mol Endocrinol. 1999;13:681\u201391.","journal-title":"Mol Endocrinol"},{"key":"300_CR12","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1016\/j.juro.2014.10.097","volume":"193","author":"JS Barthold","year":"2015","unstructured":"Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskj\u00f6ld A, Olivant Fisher A, et al. Phenotype-specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. J Urol. 2015;193:1637\u201345.","journal-title":"J Urol"},{"key":"300_CR13","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1007\/s00439-012-1181-3","volume":"131","author":"R Chatterjee","year":"2012","unstructured":"Chatterjee R, Ramos E, Hoffman M, VanWinkle J, Martin DR, Davis TK, et al. 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. 2012;131:1725\u201338.","journal-title":"Hum Genet"},{"key":"300_CR14","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.juro.2014.02.044","volume":"192","author":"K Mizuno","year":"2014","unstructured":"Mizuno K, Kojima Y, Kamisawa H, Moritoki Y, Nishio H, Nakane A, et al. Elucidation of distinctive genomic DNA structures in patients with 46,XX testicular disorders of sex development using genome-wide analyses. J Urol. 2014;192:535\u201341.","journal-title":"J Urol"},{"key":"300_CR15","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1681\/ASN.2012121148","volume":"24","author":"RA Gbadegesin","year":"2013","unstructured":"Gbadegesin RA, Brophy PD, Adeyemo A, Hall G, Gupta IR, Hains D, et al. TNXB mutations can cause vesicoureteral reflux. J Am Soc Nephrol. 2013;24:1313\u201322.","journal-title":"J Am Soc Nephrol"},{"key":"300_CR16","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1056\/NEJMoa1214479","volume":"369","author":"S Sanna-Cherchi","year":"2012","unstructured":"Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med. 2012;369:621\u20139.","journal-title":"N Engl J Med"},{"key":"300_CR17","doi-asserted-by":"crossref","first-page":"3929","DOI":"10.1172\/JCI75943","volume":"124","author":"GM Aloisio","year":"2014","unstructured":"Aloisio GM, Nakada Y, Saatcioglu HD, Pe\u00f1a CG, Baker MD, Tarnawa ED, et al. PAX7 expression defines germline stem cells in the adult testis. J Clin Invest. 2014;124:3929\u201344.","journal-title":"J Clin Invest"},{"key":"300_CR18","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/stem.1853","volume":"33","author":"YL Yamaguchi","year":"2015","unstructured":"Yamaguchi YL, Tanaka SS, Kumagai M, Fujimoto Y, Terabayashi T, Matsui Y, et al. Sall4 is essential for mouse primordial germ cell specification by suppressing somatic cell program genes. Stem Cells. 2015;33:289\u2013300.","journal-title":"Stem Cells"},{"key":"300_CR19","doi-asserted-by":"crossref","first-page":"e68508","DOI":"10.1371\/journal.pone.0068508","volume":"8","author":"D Toyoda","year":"2013","unstructured":"Toyoda D, Taguchi A, Chiga M, Ohmori T, Nishinakamura R. Sall4 is transiently expressed in the caudal Wolffian duct and the ureteric bud, but dispensable for kidney development. PLoS One. 2013;8:e68508.","journal-title":"PLoS One"},{"key":"300_CR20","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1681\/ASN.2011060566","volume":"23","author":"P Tripathi","year":"2012","unstructured":"Tripathi P, Wang Y, Casey AM, Chen F. Absence of canonical Smad signaling in ureteral and bladder mesenchyme causes ureteropelvic junction obstruction. J Am Soc Nephrol. 2012;23:618\u201328.","journal-title":"J Am Soc Nephrol"},{"key":"300_CR21","doi-asserted-by":"crossref","unstructured":"Ciller IM, Palanisamy SK, Ciller UA, McFarlane JR. Postnatal expression of bone morphogenetic proteins and their receptors in the mouse testis. Physiol Res. 2016; [Epub ahead of print]","DOI":"10.33549\/physiolres.933193"},{"key":"300_CR22","doi-asserted-by":"crossref","first-page":"e104503","DOI":"10.1371\/journal.pone.0104503","volume":"9","author":"J Yan","year":"2014","unstructured":"Yan J, Zhang L, Xu J, Sultana N, Hu J, Cai X, et al. Smad4 regulates ureteral smooth muscle cell differentiation during mouse embryogenesis. PLoS One. 2014;9:e104503.","journal-title":"PLoS One"},{"key":"300_CR23","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/nrm3434","volume":"13","author":"J Massagu\u00e9","year":"2012","unstructured":"Massagu\u00e9 J. TGFbeta signalling in context. Nat Rev Mol Cell Biol. 2012;13:616\u201330.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"300_CR24","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.jpedsurg.2007.09.079","volume":"43","author":"Y Liang","year":"2008","unstructured":"Liang Y, Shen D, Cai W. Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-brocks syndrome: a case report and review of the literature. J Pediatr Surg. 2008;43:391\u20133.","journal-title":"J Pediatr Surg"},{"key":"300_CR25","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1002\/ajmg.a.31399","volume":"140","author":"A Slavotinek","year":"2006","unstructured":"Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A. 2006;140:1909\u201314.","journal-title":"Am J Med Genet A"},{"key":"300_CR26","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1146\/annurev.cellbio.22.010305.104340","volume":"22","author":"GR Dressler","year":"2006","unstructured":"Dressler GR. The cellular basis of kidney development. Annu Rev Cell Dev Biol. 2006;22:509\u201329.","journal-title":"Annu Rev Cell Dev Biol"},{"key":"300_CR27","doi-asserted-by":"crossref","first-page":"112","DOI":"10.3390\/cells4020112","volume":"4","author":"M Krause","year":"2015","unstructured":"Krause M, Rak-Raszewska A, Pietila I, Quaggin SE, Vainio S. Signaling during kidney development. Cell. 2015;4:112\u201332.","journal-title":"Cell"},{"key":"300_CR28","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1007\/s00467-013-2606-5","volume":"29","author":"TK Davis","year":"2014","unstructured":"Davis TK, Hoshi M, Jain S. To bud or not to bud: the RET perspective in CAKUT. Pediatr Nephrol. 2014;29:597\u2013608.","journal-title":"Pediatr Nephrol"},{"key":"300_CR29","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/iub.1115","volume":"65","author":"C Itman","year":"2013","unstructured":"Itman C, Loveland KL. Smads and cell fate: distinct roles in specification, development, and tumorigenesis in the testis. IUBMB Life. 2013;65:85\u201397.","journal-title":"IUBMB Life"},{"key":"300_CR30","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1073\/pnas.1517994113","volume":"113","author":"LY Chen","year":"2016","unstructured":"Chen LY, Willis WD, Eddy EM. Targeting the Gdnf gene in peritubular myoid cells disrupts undifferentiated spermatogonial cell development. Proc Natl Acad Sci U S A. 2016;113:1829\u201334.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"300_CR31","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/ng.1016","volume":"44","author":"C Le Goff","year":"2012","unstructured":"Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, et al. Mutations at a single codon in mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet. 2012;44:85\u20138.","journal-title":"Nat Genet"},{"key":"300_CR32","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.ajhg.2015.07.001","volume":"97","author":"A Vivante","year":"2015","unstructured":"Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, et al. Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development. Am J Hum Genet. 2015;97:291\u2013301.","journal-title":"Am J Hum Genet"},{"key":"300_CR33","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1007\/s00439-015-1570-5","volume":"134","author":"DY Hwang","year":"2015","unstructured":"Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, et al. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Hum Genet. 2015;134:905\u201316.","journal-title":"Hum Genet"},{"key":"300_CR34","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00439-015-1610-1","volume":"135","author":"A Kosfeld","year":"2016","unstructured":"Kosfeld A, Kreuzer M, Daniel C, Brand F, Sch\u00e4fer AK, Chadt A, et al. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). Hum Genet. 2016;135:69\u201387.","journal-title":"Hum Genet"}],"container-title":["BMC Urology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12894-017-0300-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T15:50:01Z","timestamp":1603468201000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcurol.biomedcentral.com\/articles\/10.1186\/s12894-017-0300-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["300"],"URL":"https:\/\/doi.org\/10.1186\/s12894-017-0300-9","relation":{},"ISSN":["1471-2490"],"issn-type":[{"value":"1471-2490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12]]},"article-number":"112"}}