This pathway describes the gene signalling pathway active in the development of the ureteric collection system in human kidney development. Mutations in essential genes within this pathway can lead to development of CAKUT (congenital anomalies of the kidney and urinary tract).fdec94c94ae4found only in mouse so farCyclinD1c0ae0be9aae4c4efound only in mouse so farfound only in mouse so farN-MYCfound only in mouse so faralso known as KAL-1, KAL1c7bf3ee33e33d99a43e33found only in mouse so fare33face33found only in mouse so farbfbc0ae09b39c57bbcce8c9ede7bbca40Evidence in mouse onlyf5abbcb51bbcbbccf3b39ce8ce3ecabbccf3e16ce8be8db3a40bfbb39b39de7bbcbbcbbcbbcbbcce8signaling pathwayPW:0000003Pathway Ontologykidney diseaseDOID:557Human Disease OntologyCAKUTDOID:0080205Human Disease Ontology18787044PubMedFras1, 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 Genet2008Pitera JEScambler PJWoolf AS15838507PubMedIdentification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.Nat Genet2005Jadeja SSmyth IPitera JETaylor MSvan Haelst MBentley EMcGregor LHopkins JChalepakis GPhilip NPerez Aytes AWatt FMDarling SMJackson IWoolf ASScambler PJ27597235PubMedPlanar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.Kidney Int2016Brzóska HŁd'Esposito AMKolatsi-Joannou MPatel VIgarashi PLei YFinnell RHLythgoe MFWoolf ASPapakrivopoulou ELong DA29194579PubMedTargeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.Clin Genet2018Rasmussen MSunde LNielsen MLRamsing MPetersen AHjortshøj TDOlsen TETabor AHertz JMJohnsen ISperling LPetersen OBJensen UBMøller FGPetersen MBLildballe DL28739660PubMedA Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.Genetics2017Brophy PDRasmussen MParida MBonde GDarbro BWHong XClarke JCPeterson KADenegre JSchneider MSussman CRSunde LLildballe DLHertz JMCornell RAMurray SAManak JR29100091PubMedMutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.Am J Hum Genet2017De Tomasi LDavid PHumbert CSilbermann FArrondel CTores FFouquet SDesgrange ANiel OBole-Feysot CNitschké PRoume JCordier MPPietrement CIsidor BKhau Van Kien PGonzales MSaint-Frison MHMartinovic JNovo RPiard JCabrol CVerma ICPuri RJournel HAziza JGavard LSaid-Menthon MHHeidet LSaunier SJeanpierre C29100090PubMedExome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.Am J Hum Genet2017Sanna-Cherchi SKhan KWestland RKrithivasan PFievet LRasouly HMIonita-Laza ICapone VPFasel DAKiryluk KKamalakaran SBodria MOtto EASampson MGGillies CEVega-Warner VVukojevic KPediaditakis IMakar GSMitrotti AVerbitsky MMartino JLiu QNa YJGoj VArdissino GGigante MGesualdo LJanezcko MZaniew MMendelsohn CLShril SHildebrandt Fvan Wijk JAEArapovic ASaraga MAllegri LIzzi CScolari FTasic VGhiggeri GMLatos-Bielenska AMaterna-Kiryluk AMane SGoldstein DBLifton RPKatsanis NDavis EEGharavi AG28566479PubMedTargeted Exome Sequencing Identifies<i>PBX1</i>as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.J Am Soc Nephrol2017Heidet LMorinière VHenry CDe Tomasi LReilly MLHumbert CAlibeu OFourrage CBole-Feysot CNitschké PTores FBras MJeanpierre MPietrement CGaillard DGonzales MNovo RSchaefer ERoume JMartinovic JMalan VSalomon RSaunier SAntignac CJeanpierre C9719154PubMedProteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney.Nephrol Dial Transplant1998Duke VQuinton RGordon IBouloux PMWoolf AS10340754PubMedAnosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.Dev Dyn1999Hardelin JPJulliard AKMoniot BSoussi-Yanicostas NVerney CSchwanzel-Fukuda MAyer-Le Lievre CPetit C16971658PubMedPrevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.J Am Soc Nephrol2006Weber SMoriniere VKnüppel TCharbit MDusek JGhiggeri GMJankauskiené AMir SMontini GPeco-Antic AWühl EZurowska AMMehls OAntignac CSchaefer FSalomon R9425907PubMedMutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.Nat Genet1998Kohlhase JWischermann AReichenbach HFroster UEngel W12766769PubMedFraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.Nat Genet2003McGregor LMakela VDarling SMVrontou SChalepakis GRoberts CSmart NRutland PPrescott NHopkins JBentley EShaw ARoberts EMueller RJadeja SPhilip NNelson JFrancannet CPerez-Aytes AMegarbane AKerr BWainwright BWoolf ASWinter RMScambler PJ9361030PubMedClustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.Hum Mol Genet1997Abdelhak SKalatzis VHeilig RCompain SSamson DVincent CLevi-Acobas FCruaud CLe Merrer MMathieu MKönig RVigneron JWeissenbach JPetit CWeil D17462874PubMedFrem3, a member of the 12 CSPG repeats-containing extracellular matrix protein family, is a basement membrane protein with tissue distribution patterns distinct from those of Fras1, Frem2, and QBRICK/Frem1.Matrix Biol2007Kiyozumi DSugimoto NNakano ISekiguchi K16880404PubMedBreakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.Proc Natl Acad Sci U S A2006Kiyozumi DSugimoto NSekiguchi K16396903PubMedGLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis.Development2006Hu MCMo RBhella SWilson CWChuang PTHui CCRosenblum ND26604140PubMedUrogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.Hum Mol Genet2016Blake JHu DCain JERosenblum ND29079659PubMedNovel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.J Am Soc Nephrol2018van der Ven ATVivante AHildebrandt F15141091PubMedSIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.Proc Natl Acad Sci U S A2004Ruf RGXu PXSilvius DOtto EABeekmann FMuerb UTKumar SNeuhaus TJKemper MJRaymond RM JrBrophy PDBerkman JGattas MHyland VRuf EMSchwartz CChang EHSmith RJStratakis CAWeil DPetit CHildebrandt F17537792PubMedThe ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression.Development2007Linton JMMartin GRReichardt LF19809516PubMedGLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells.PLoS One2009Cain JEIslam EHaxho FChen LBridgewater DNieuwenhuis EHui CCRosenblum ND17785448PubMedA Hox-Eya-Pax complex regulates early kidney developmental gene expression.Mol Cell Biol2007Gong KQYallowitz ARSun HDressler GRWellik DM23064016PubMedSprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.J Am Soc Nephrol2012Pitera JEWoolf ASBasson MAScambler PJ17522159PubMedReduction of BMP4 activity by gremlin 1 enables ureteric bud outgrowth and GDNF/WNT11 feedback signalling during kidney branching morphogenesis.Development2007Michos OGonçalves ALopez-Rios JTiecke ENaillat FBeier KGalli AVainio SZeller R15327782PubMedThe transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter.Mech Dev2004Brodbeck SBesenbeck BEnglert C11203700PubMedGdf11 is a negative regulator of chondrogenesis and myogenesis in the developing chick limb.Dev Biol2001Gamer LWCox KASmall CRosen V29945868PubMedHedgehog-GLI signaling in<i>Foxd1-</i>positive stromal cells promotes murine nephrogenesis via TGFβ signaling.Development2018Rowan CJLi WMartirosyan HErwood SHu DKim YKSheybani-Deloui SMulder JBlake JChen LRosenblum ND12060755PubMedHoxa 11 is upstream of Integrin alpha8 expression in the developing kidney.Proc Natl Acad Sci U S A2002Valerius MTPatterson LTFeng YPotter SS12414726PubMedActivin type IIA and IIB receptors mediate Gdf11 signaling in axial vertebral patterning.Genes Dev2002Oh SPYeo CYLee YSchrewe HWhitman MLi E