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Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, de Angelis MH, Ćomić J, Doğan ÖA, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Ćalışkan S, Weber R, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Wu K, Antony D, Matschkal J, Schaaf C, Renders L, Schmaderer C, Meitinger T, Heemann U, Köttgen A, Arnold S, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: saunier s. medRxiv [Preprint]. 2023 Mar 22:2023.03.21.23287206. doi: 10.1101/2023.03.21.23287206. medRxiv. 2023. PMID: 36993625 Free PMC article. Updated. Preprint.
Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.
Wodarczyk C, Distefano G, Rowe I, Gaetani M, Bricoli B, Muorah M, Spitaleri A, Mannella V, Ricchiuto P, Pema M, Castelli M, Casanova AE, Mollica L, Banzi M, Boca M, Antignac C, Saunier S, Musco G, Boletta A. Wodarczyk C, et al. Among authors: saunier s. PLoS One. 2010 Sep 14;5(9):e12719. doi: 10.1371/journal.pone.0012719. PLoS One. 2010. PMID: 20856870 Free PMC article.
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T. Thomas S, et al. Among authors: saunier s. Hum Mutat. 2014 Jan;35(1):137-46. doi: 10.1002/humu.22470. Hum Mutat. 2014. PMID: 24166846 Free PMC article.
Matrix metalloproteinase 13 (MMP13) and tissue inhibitor of matrix metalloproteinase 1 (TIMP1), regulated by the MAPK pathway, are both necessary for Madin-Darby canine kidney tubulogenesis.
Hellman NE, Spector J, Robinson J, Zuo X, Saunier S, Antignac C, Tobias JW, Lipschutz JH. Hellman NE, et al. Among authors: saunier s. J Biol Chem. 2008 Feb 15;283(7):4272-82. doi: 10.1074/jbc.M708027200. Epub 2007 Nov 26. J Biol Chem. 2008. PMID: 18039671 Free article.
Familial juvenile nephronophthisis.
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C. Konrad M, et al. Among authors: saunier s. J Mol Med (Berl). 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. J Mol Med (Berl). 1998. PMID: 9587065 Review.
99 results