Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

por Delous, Marion, Hellman, Nathan E., Gaudé, Helori-Maël, Silbermann, Flora, Le Bivic, André, Salomon, Rémi, Antignac, Corinne, Saunier, Sophie
Publicado 2009

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

por Mahuzier, Alexia, Gaudé, Helori-Mael, Grampa, Valentina, Anselme, Isabelle, Silbermann, Flora, Leroux-Berger, Margot, Delacour, Delphine, Ezan, Jerome, Montcouquiol, Mireille, Saunier, Sophie, Schneider-Maunoury, Sylvie, Vesque, Christine
Publicado 2012

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

por Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.
Publicado 2020

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

por Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie
Publicado 2016

Agonists of prostaglandin E(2) receptors as potential first in class treatment for nephronophthisis and related ciliopathies

por Garcia, Hugo, Serafin, Alice S., Silbermann, Flora, Porée, Esther, Viau, Amandine, Mahaut, Clémentine, Billot, Katy, Birgy, Éléonore, Garfa-Traore, Meriem, Roy, Stéphanie, Ceccarelli, Salomé, Mehraz, Manon, Rodriguez, Pamela C., Deleglise, Bérangère, Furio, Laetitia, Jabot-Hanin, Fabienne, Cagnard, Nicolas, Del Nery, Elaine, Fila, Marc, Sin-Monnot, Soraya, Antignac, Corinne, Lyonnet, Stanislas, Krug, Pauline, Salomon, Rémi, Annereau, Jean-Philippe, Benmerah, Alexandre, Delous, Marion, Briseño-Roa, Luis, Saunier, Sophie
Publicado 2022