Development of ureteric derived collecting system (WP5053)
Homo sapiens
This pathway describes the gene signaling 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).
Authors
Friederike Ehrhart and Eric WeitzActivity
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Cited In
- Overlap of vitamin A and vitamin D target genes with CAKUT-related processes (2022).
- Discovering Common Pathogenic Mechanisms of COVID-19 and Parkinson Disease: An Integrated Bioinformatics Analysis (2022).
- A System Biology Approach Reveals New Targets for Human Thyroid Gland Toxicity in Embryos and Adult Individuals (2024).
- Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort (2024).
- Transcriptome analysis of newly established carboplatin-resistant ovarian cancer cell model reveals genes shared by drug resistance and drug-induced EMT (2023).
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
CAKUT Fraser syndrome Pallister-Hall syndrome Kallmann syndrome kidney diseasePathway Ontology
signaling pathwayReferences
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- Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, et al. Nat Genet. 2003 Jun;34(2):203–8. PubMed Europe PMC Scholia
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- The transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter. Brodbeck S, Besenbeck B, Englert C. Mech Dev. 2004 Oct;121(10):1211–22. PubMed Europe PMC Scholia
- Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, et al. Nat Genet. 2005 May;37(5):520–5. PubMed Europe PMC Scholia
- GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis. Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, Hui CC, et al. Development. 2006 Feb;133(3):569–78. PubMed Europe PMC Scholia
- Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. Kiyozumi D, Sugimoto N, Sekiguchi K. Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):11981–6. PubMed Europe PMC Scholia
- Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, et al. J Am Soc Nephrol. 2006 Oct;17(10):2864–70. PubMed Europe PMC Scholia
- 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. Kiyozumi D, Sugimoto N, Nakano I, Sekiguchi K. Matrix Biol. 2007 Jul;26(6):456–62. PubMed Europe PMC Scholia
- Reduction of BMP4 activity by gremlin 1 enables ureteric bud outgrowth and GDNF/WNT11 feedback signalling during kidney branching morphogenesis. Michos O, Gonçalves A, Lopez-Rios J, Tiecke E, Naillat F, Beier K, et al. Development. 2007 Jul;134(13):2397–405. PubMed Europe PMC Scholia
- The ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression. Linton JM, Martin GR, Reichardt LF. Development. 2007 Jul;134(13):2501–9. PubMed Europe PMC Scholia
- A Hox-Eya-Pax complex regulates early kidney developmental gene expression. Gong KQ, Yallowitz AR, Sun H, Dressler GR, Wellik DM. Mol Cell Biol. 2007 Nov;27(21):7661–8. PubMed Europe PMC Scholia
- Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. Pitera JE, Scambler PJ, Woolf AS. Hum Mol Genet. 2008 Dec 15;17(24):3953–64. PubMed Europe PMC Scholia
- GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells. Cain JE, Islam E, Haxho F, Chen L, Bridgewater D, Nieuwenhuis E, et al. PLoS One. 2009 Oct 7;4(10):e7313. PubMed Europe PMC Scholia
- Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome. Pitera JE, Woolf AS, Basson MA, Scambler PJ. J Am Soc Nephrol. 2012 Nov;23(11):1790–6. PubMed Europe PMC Scholia
- Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. Blake J, Hu D, Cain JE, Rosenblum ND. Hum Mol Genet. 2016 Feb 1;25(3):437–47. PubMed Europe PMC Scholia
- Planar cell polarity genes Celsr1 and Vangl2 are necessary for kidney growth, differentiation, and rostrocaudal patterning. Brzóska HŁ, d’Esposito AM, Kolatsi-Joannou M, Patel V, Igarashi P, Lei Y, et al. Kidney Int. 2016 Dec;90(6):1274–84. PubMed Europe PMC Scholia
- Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, et al. J Am Soc Nephrol. 2017 Oct;28(10):2901–14. PubMed Europe PMC Scholia
- A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, et al. Genetics. 2017 Sep;207(1):215–28. PubMed Europe PMC Scholia
- Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. van der Ven AT, Vivante A, Hildebrandt F. J Am Soc Nephrol. 2018 Jan;29(1):36–50. PubMed Europe PMC Scholia
- Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, et al. Am J Hum Genet. 2017 Nov 2;101(5):789–802. PubMed Europe PMC Scholia
- Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. De Tomasi L, David P, Humbert C, Silbermann F, Arrondel C, Tores F, et al. Am J Hum Genet. 2017 Nov 2;101(5):803–14. PubMed Europe PMC Scholia
- Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies. Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, et al. Clin Genet. 2018 Apr;93(4):860–9. PubMed Europe PMC Scholia
- Hedgehog-GLI signaling in Foxd1-positive stromal cells promotes murine nephrogenesis via TGFβ signaling. Rowan CJ, Li W, Martirosyan H, Erwood S, Hu D, Kim YK, et al. Development. 2018 Jul 9;145(13):dev159947. PubMed Europe PMC Scholia