Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

por Saunier, S, Gaudé, HM, Montjean, R, Silbermann, F, Grampa, V, Burcklé, C, Montenont, E, Delous, M, Vesque, C, Jeanpierre, C, Antignac, C, Terzi, F, Schneider-Maunoury, S
Publicado 2012

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

por Grampa, V, Delous, M, Silbermann, F, Oyde, G, Krug, P, Filhol, E, Alessandri, JL, Sigaudy, S, Bouvier, R, Zabot, MT, Antignac, C, Gubler, M, Attié-Bitach, T, Benmerah, A, Jeanpierre, C, Saunier, S
Publicado 2015

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration

por Becker-Heck, A, Bizet, A, Ryan, R, Krug, P, Filhol, E, Linghu, B, Oakeley, E, Serluca, F, Legendre, F, Dörner, N, Lasbennes, MC, Duca, J, Yang, F, Damask, A, Klickstein, L, Labow, M, Schebesta, M, Bouwmeester, T, Valette, H, Pinson, L, Goubaux, B, Dubot, P, Salomon, R, Antignac, C, Gubler, M, Jeanpierre, C, Chibout, S, Bole-Feysot, C, Nitschké, P, Benmerah, A, Szustakowski, JD, Sailer, AW, Saunier, S, Saint-Mezard, P
Publicado 2015