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

Por Schou, Kenneth B., Mogensen, Johanne B., Morthorst, Stine K., Nielsen, Brian S., Aleliunaite, Aiste, Serra-Marques, Andrea, Fürstenberg, Nicoline, Saunier, Sophie, Bizet, Albane A., Veland, Iben R., Akhmanova, Anna, Christensen, Søren T., Pedersen, Lotte B.
Publicado no Nat Commun (2017)

A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS

Por Cong, Evelyne Huynh, Bizet, Albane A., Boyer, Olivia, Woerner, Stéphanie, Gribouval, Olivier, Filhol, Emilie, Arrondel, Christelle, Thomas, Sophie, Silbermann, Flora, Canaud, Guillaume, Hachicha, Jamil, Ben Dhia, Nasr, Peraldi, Marie-Noëlle, Harzallah, Kais, Iftene, Daouia, Daniel, Laurent, Willems, Marjolaine, Noel, Laure-Hélène, Bole-Feysot, Christine, Nitschké, Patrick, Gubler, Marie-Claire, Mollet, Géraldine, Saunier, Sophie, Antignac, Corinne
Publicado no J Am Soc Nephrol (2014)

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Por Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel
Publicado em 2012

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Por Schmidts, Miriam, Frank, Valeska, Eisenberger, Tobias, al Turki, Saeed, Bizet, Albane A., Antony, Dinu, Rix, Suzanne, Decker, Christian, Bachmann, Nadine, Bald, Martin, Vinke, Tobias, Toenshoff, Burkhard, Donato, Natalia Di, Neuhann, Theresa, Hartley, Jane L., Maher, Eamonn R., Bogdanović, Radovan, Peco-Antić, Amira, Mache, Christoph, Hurles, Matthew E., Joksić, Ivana, Guć-Šćekić, Marija, Dobricic, Jelena, Brankovic-Magic, Mirjana, Bolz, Hanno J., Pazour, Gregory J., Beales, Philip L., Scambler, Peter J., Saunier, Sophie, Mitchison, Hannah M., Bergmann, Carsten
Publicado no Hum Mutat (2013)

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

Por Bizet, Albane A., Becker-Heck, Anita, Ryan, Rebecca, Weber, Kristina, Filhol, Emilie, Krug, Pauline, Halbritter, Jan, Delous, Marion, Lasbennes, Marie-Christine, Linghu, Bolan, Oakeley, Edward J., Zarhrate, Mohammed, Nitschké, Patrick, Garfa-Traore, Meriem, Serluca, Fabrizio, Yang, Fan, Bouwmeester, Tewis, Pinson, Lucile, Cassuto, Elisabeth, Dubot, Philippe, Elshakhs, Neveen A. Soliman, Sahel, José A., Salomon, Rémi, Drummond, Iain A., Gubler, Marie-Claire, Antignac, Corinne, Chibout, Salahdine, Szustakowski, Joseph D., Hildebrandt, Friedhelm, Lorentzen, Esben, Sailer, Andreas W., Benmerah, Alexandre, Saint-Mezard, Pierre, Saunier, Sophie
Publicado no Nat Commun (2015)

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Por Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, Hildebrandt, Friedhelm
Publicado em 2013