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Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.
Mekahli D, Decuypere JP, Sammels E, Welkenhuyzen K, Schoeber J, Audrezet MP, Corvelyn A, Dechênes G, Ong AC, Wilmer MJ, van den Heuvel L, Bultynck G, Parys JB, Missiaen L, Levtchenko E, De Smedt H. Mekahli D, et al. Pflugers Arch. 2014 Aug;466(8):1591-604. doi: 10.1007/s00424-013-1394-x. Epub 2013 Nov 6. Pflugers Arch. 2014. PMID: 24193408
An unusual presentation of Denys-Drash syndrome due to bigenic disease.
Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E. Eneman B, et al. Among authors: mekahli d. Pediatrics. 2014 Jan;133(1):e252-6. doi: 10.1542/peds.2013-1524. Epub 2013 Dec 30. Pediatrics. 2014. PMID: 24379226
124 results