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).

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

regulatory pathway

Disease Ontology

CAKUT

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. 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
4. 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
5. 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