Development of ureteric derived collecting system (WP5053)

Homo sapiens

Authors

Friederike Ehrhart and Eric Weitz

Activity

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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 sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

CAKUT Pallister-Hall syndrome Kallmann syndrome Fraser syndrome kidney disease

Pathway Ontology

signaling pathway

References

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2. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Nat Genet. 1998 Jan;18(1):81–3. PubMed Europe PMC Scholia
3. Proteinuria, hypertension and chronic renal failure in X-linked Kallmann’s syndrome, a defined genetic cause of solitary functioning kidney. Duke V, Quinton R, Gordon I, Bouloux PM, Woolf AS. Nephrol Dial Transplant. 1998 Aug;13(8):1998–2003. PubMed Europe PMC Scholia
4. Stromal cells mediate retinoid-dependent functions essential for renal development. Mendelsohn C, Batourina E, Fung S, Gilbert T, Dodd J. Development. 1999 Mar;126(6):1139–48. PubMed Europe PMC Scholia
5. 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. Hardelin JP, Julliard AK, Moniot B, Soussi-Yanicostas N, Verney C, Schwanzel-Fukuda M, et al. Dev Dyn. 1999 May;215(1):26–44. PubMed Europe PMC Scholia
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8. Hoxa 11 is upstream of Integrin alpha8 expression in the developing kidney. Valerius MT, Patterson LT, Feng Y, Potter SS. Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8090–5. PubMed Europe PMC Scholia
9. Activin type IIA and IIB receptors mediate Gdf11 signaling in axial vertebral patterning. Oh SP, Yeo CY, Lee Y, Schrewe H, Whitman M, Li E. Genes Dev. 2002 Nov 1;16(21):2749–54. PubMed Europe PMC Scholia
10. 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
11. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090–5. PubMed Europe PMC Scholia
12. 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
13. 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
14. 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
15. 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
16. 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
17. 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
18. 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
19. 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
20. 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
21. 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
22. 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
23. Mutations in GRIP1 cause Fraser syndrome. Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, et al. J Med Genet. 2012 May;49(5):303–6. PubMed Europe PMC Scholia
24. 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
25. Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum. Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M. Am J Med Genet A. 2014 Mar;164A(3):837–40. PubMed Europe PMC Scholia
26. 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
27. 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
28. 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
29. 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