Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis

by Marijn F. Stokman, Marijn F. Stokman, Sophie Saunier, Alexandre Benmerah
Published 2021-05-01

Diagnosis support systems for rare diseases: a scoping review

by Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier, Anita Burgun
Published 2020-04-01

Inversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration.

by Iben R Veland, Rodrick Montjean, Lorraine Eley, Lotte B Pedersen, Albrecht Schwab, Judith Goodship, Karsten Kristiansen, Stine F Pedersen, Sophie Saunier, Søren T Christensen
Published 2013-01-01

Targeting of beta-arrestin2 to the centrosome and primary cilium: role in cell proliferation control.

by Anahi Molla-Herman, Cedric Boularan, Rania Ghossoub, Mark G H Scott, Anne Burtey, Marion Zarka, Sophie Saunier, Jean-Paul Concordet, Stefano Marullo, Alexandre Benmerah
Published 2008-01-01

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling

by Kenneth B. Schou, Johanne B. Mogensen, Stine K. Morthorst, Brian S. Nielsen, Aiste Aleliunaite, Andrea Serra-Marques, Nicoline Fürstenberg, Sophie Saunier, Albane A. Bizet, Iben R. Veland, Anna Akhmanova, Søren T. Christensen, Lotte B. Pedersen
Published 2017-01-01

Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.

by Claas Wodarczyk, Gianfranco Distefano, Isaline Rowe, Massimiliano Gaetani, Barbara Bricoli, Mordi Muorah, Andrea Spitaleri, Valeria Mannella, Piero Ricchiuto, Monika Pema, Maddalena Castelli, Ariel E Casanova, Luca Mollica, Manuela Banzi, Manila Boca, Corinne Antignac, Sophie Saunier, Giovanna Musco, Alessandra Boletta
Published 2010-09-01

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.

by Wesley R Lewis, Erik B Malarkey, Douglas Tritschler, Raqual Bower, Raymond C Pasek, Jonathan D Porath, Susan E Birket, Sophie Saunier, Corinne Antignac, Michael R Knowles, Margaret W Leigh, Maimoona A Zariwala, Anil K Challa, Robert A Kesterson, Steven M Rowe, Iain A Drummond, John M Parant, Friedhelm Hildebrandt, Mary E Porter, Bradley K Yoder, Nicolas F Berbari
Published 2016-07-01

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

by Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier
Published 2016-03-01