Development of ureteric derived collecting system (Homo sapiens)
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Description
This pathway describes the gene signalling pathway active in the development of the ureteric collection system in human kidney development.
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Ontology Terms
Bibliography
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- Pitera JE, Scambler PJ, Woolf AS; ''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, 2008 PubMed Europe PMC Scholia
- Brodbeck S, Besenbeck B, Englert C; ''The transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter.''; Mech Dev, 2004 PubMed Europe PMC Scholia
- Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F; ''SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.''; Proc Natl Acad Sci U S A, 2004 PubMed Europe PMC Scholia
- Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C; ''Targeted Exome Sequencing IdentifiesPBX1as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.''; J Am Soc Nephrol, 2017 PubMed Europe PMC Scholia
- Duke V, Quinton R, Gordon I, Bouloux PM, Woolf AS; ''Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney.''; Nephrol Dial Transplant, 1998 PubMed Europe PMC Scholia
- Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG; ''Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
- Oh SP, Yeo CY, Lee Y, Schrewe H, Whitman M, Li E; ''Activin type IIA and IIB receptors mediate Gdf11 signaling in axial vertebral patterning.''; Genes Dev, 2002 PubMed Europe PMC Scholia
- Gamer LW, Cox KA, Small C, Rosen V; ''Gdf11 is a negative regulator of chondrogenesis and myogenesis in the developing chick limb.''; Dev Biol, 2001 PubMed Europe PMC Scholia
- McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ; ''Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.''; Nat Genet, 2003 PubMed Europe PMC Scholia
- Michos O, Gonçalves A, Lopez-Rios J, Tiecke E, Naillat F, Beier K, Galli A, Vainio S, Zeller R; ''Reduction of BMP4 activity by gremlin 1 enables ureteric bud outgrowth and GDNF/WNT11 feedback signalling during kidney branching morphogenesis.''; Development, 2007 PubMed Europe PMC Scholia
- Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W; ''Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.''; Nat Genet, 1998 PubMed Europe PMC Scholia
- Valerius MT, Patterson LT, Feng Y, Potter SS; ''Hoxa 11 is upstream of Integrin alpha8 expression in the developing kidney.''; Proc Natl Acad Sci U S A, 2002 PubMed Europe PMC Scholia
- Hardelin JP, Julliard AK, Moniot B, Soussi-Yanicostas N, Verney C, Schwanzel-Fukuda M, Ayer-Le Lievre C, Petit C; ''Anosmin-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 Dyn, 1999 PubMed Europe PMC Scholia
- Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ; ''Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.''; Nat Genet, 2005 PubMed Europe PMC Scholia
- De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, Fouquet S, Desgrange A, Niel O, Bole-Feysot C, Nitschké P, Roume J, Cordier MP, Pietrement C, Isidor B, Khau Van Kien P, Gonzales M, Saint-Frison MH, Martinovic J, Novo R, Piard J, Cabrol C, Verma IC, Puri R, Journel H, Aziza J, Gavard L, Said-Menthon MH, Heidet L, Saunier S, Jeanpierre C; ''Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
- van der Ven AT, Vivante A, Hildebrandt F; ''Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.''; J Am Soc Nephrol, 2018 PubMed Europe PMC Scholia
- Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D; ''Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.''; Hum Mol Genet, 1997 PubMed Europe PMC Scholia
- Gong KQ, Yallowitz AR, Sun H, Dressler GR, Wellik DM; ''A Hox-Eya-Pax complex regulates early kidney developmental gene expression.''; Mol Cell Biol, 2007 PubMed Europe PMC Scholia
- Blake J, Hu D, Cain JE, Rosenblum ND; ''Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
- Cain JE, Islam E, Haxho F, Chen L, Bridgewater D, Nieuwenhuis E, Hui CC, Rosenblum ND; ''GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells.''; PLoS One, 2009 PubMed Europe PMC Scholia
- Rowan CJ, Li W, Martirosyan H, Erwood S, Hu D, Kim YK, Sheybani-Deloui S, Mulder J, Blake J, Chen L, Rosenblum ND; ''Hedgehog-GLI signaling inFoxd1-positive stromal cells promotes murine nephrogenesis via TGFβ signaling.''; Development, 2018 PubMed Europe PMC Scholia
- Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR; ''A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.''; Genetics, 2017 PubMed Europe PMC Scholia
- Kiyozumi D, Sugimoto N, Sekiguchi K; ''Breakdown 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 A, 2006 PubMed Europe PMC Scholia
- Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Møller FG, Petersen MB, Lildballe DL; ''Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.''; Clin Genet, 2018 PubMed Europe PMC Scholia
- Kiyozumi D, Sugimoto N, Nakano I, Sekiguchi K; ''Frem3, 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 Biol, 2007 PubMed Europe PMC Scholia
- Linton JM, Martin GR, Reichardt LF; ''The ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression.''; Development, 2007 PubMed Europe PMC Scholia
- Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R; ''Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.''; J Am Soc Nephrol, 2006 PubMed Europe PMC Scholia
- Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, Hui CC, Rosenblum ND; ''''; , PubMed Europe PMC Scholia
- Pitera JE, Woolf AS, Basson MA, Scambler PJ; ''Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.''; J Am Soc Nephrol, 2012 PubMed Europe PMC Scholia
- Brzóska H�, d'Esposito AM, Kolatsi-Joannou M, Patel V, Igarashi P, Lei Y, Finnell RH, Lythgoe MF, Woolf AS, Papakrivopoulou E, Long DA; ''Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning.''; Kidney Int, 2016 PubMed Europe PMC Scholia
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