Development of ureteric derived collecting system (Homo sapiens)
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Description
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).
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- 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
- 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
- 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
- Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M; ''Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.''; Am J Med Genet A, 2014 PubMed Europe PMC Scholia
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- 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
- 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
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