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Page 1
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.
Halawi AA, Burgmaier K, Buescher AK, Dursun I, Erger F, Galiano M, Gessner M, Gökce I, Mekahli D, Mir S, Obrycki L, Shroff R, Stabouli S, Szczepanska M, Teixeira A, Weber LT, Wenzel A, Wühl E, Zachwieja K, Dötsch J, Schaefer F, Liebau MC. Halawi AA, et al. Among authors: mekahli d. Kidney Int Rep. 2023 Apr 13;8(7):1449-1454. doi: 10.1016/j.ekir.2023.04.006. eCollection 2023 Jul. Kidney Int Rep. 2023. PMID: 37441483 Free PMC article. No abstract available.
Charcot-Marie-Tooth: are you testing for proteinuria?
De Rechter S, De Waele L, Levtchenko E, Mekahli D. De Rechter S, et al. Among authors: mekahli d. Eur J Paediatr Neurol. 2015 Jan;19(1):1-5. doi: 10.1016/j.ejpn.2014.08.004. Epub 2014 Aug 28. Eur J Paediatr Neurol. 2015. PMID: 25439738 Review.
Pediatric combined liver-kidney transplantation: a 2015 update.
Bacchetta J, Mekahli D, Rivet C, Demède D, Leclerc AL. Bacchetta J, et al. Among authors: mekahli d. Curr Opin Organ Transplant. 2015 Oct;20(5):543-9. doi: 10.1097/MOT.0000000000000225. Curr Opin Organ Transplant. 2015. PMID: 26270957 Review.
Polycystin-2 activation by inositol 1,4,5-trisphosphate-induced Ca2+ release requires its direct association with the inositol 1,4,5-trisphosphate receptor in a signaling microdomain.
Sammels E, Devogelaere B, Mekahli D, Bultynck G, Missiaen L, Parys JB, Cai Y, Somlo S, De Smedt H. Sammels E, et al. Among authors: mekahli d. J Biol Chem. 2010 Jun 11;285(24):18794-805. doi: 10.1074/jbc.M109.090662. Epub 2010 Apr 7. J Biol Chem. 2010. PMID: 20375013 Free PMC article.
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
FOXP1-related intellectual disability syndrome: a recognisable entity.
Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. Meerschaut I, et al. Among authors: mekahli d. J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. J Med Genet. 2017. PMID: 28735298
128 results