GDNF/RET signaling axis (WP4830)

Homo sapiens

Authors

Friederike Ehrhart , Eric Weitz , and Lars Willighagen

Activity

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Cited In

• Overlap of vitamin A and vitamin D target genes with CAKUT-related processes (2022).
• 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

Pathway Ontology

regulatory pathway

References

1. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, et al. Hum Mol Genet. 1997 Dec;6(13):2247–55. PubMed Europe PMC Scholia
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. 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
4. 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
5. 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
6. 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
7. Gata3 acts downstream of beta-catenin signaling to prevent ectopic metanephric kidney induction. Grote D, Boualia SK, Souabni A, Merkel C, Chi X, Costantini F, et al. PLoS Genet. 2008 Dec;4(12):e1000316. PubMed Europe PMC Scholia
8. Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Gimelli S, Caridi G, Beri S, McCracken K, Bocciardi R, Zordan P, et al. Hum Mutat. 2010 Dec;31(12):1352–9. PubMed Europe PMC Scholia
9. 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
10. Duplex kidney formation: developmental mechanisms and genetic predisposition. Kozlov VM, Schedl A. F1000Res. 2020 Jan 6;9:F1000 Faculty Rev-2. PubMed Europe PMC Scholia
11. Expansion of the renal capsular stroma, ureteric bud branching defects and cryptorchidism in mice with Wilms tumor 1 gene deletion in the stromal compartment of the developing kidney. Weiss AC, Rivera-Reyes R, Englert C, Kispert A. J Pathol. 2020 Nov;252(3):290–303. PubMed Europe PMC Scholia