Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
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
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Journal Article
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
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
Published in Nature communications (21.10.2015)
Published in Nature communications (21.10.2015)
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KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling
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
Published in Nature communications (30.01.2017)
Published in Nature communications (30.01.2017)
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Journal Article
Overexpression of CD109 in the Epidermis Differentially Regulates ALK1 Versus ALK5 Signaling and Modulates Extracellular Matrix Synthesis in the Skin
Vorstenbosch, Joshua, Nguyen, Christopher M., Zhou, Shufeng, Seo, You Jung, Siblini, Aya, Finnson, Kenneth W., Bizet, Albane A., Tran, Simon D., Philip, Anie
Published in Journal of investigative dermatology (01.03.2017)
Published in Journal of investigative dermatology (01.03.2017)
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Journal Article
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
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
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Journal Article
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis
Girard, Muriel, Bizet, Albane A., Lachaux, Alain, Gonzales, Emmanuel, Filhol, Emilie, Collardeau-Frachon, Sophie, Jeanpierre, Cécile, Henry, Charline, Fabre, Monique, Viremouneix, Loic, Galmiche, Louise, Debray, Dominique, Bole-Feysot, Christine, Nitschke, Patrick, Pariente, Danièle, Guettier, Catherine, Lyonnet, Stanislas, Heidet, Laurence, Bertholet, Aurelia, Jacquemin, Emmanuel, Henrion-Caude, Alexandra, Saunier, Sophie
Published in Human mutation (01.10.2016)
Published in Human mutation (01.10.2016)
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Journal Article
The TGF-β co-receptor, CD109, promotes internalization and degradation of TGF-β receptors
Bizet, Albane A., Liu, Kai, Tran-Khanh, Nicolas, Saksena, Anshuman, Vorstenbosch, Joshua, Finnson, Kenneth W., Buschmann, Michael D., Philip, Anie
Published in Biochimica et biophysica acta (01.05.2011)
Published in Biochimica et biophysica acta (01.05.2011)
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CD109-mediated degradation of TGF-β receptors and inhibition of TGF-β responses involve regulation of SMAD7 and Smurf2 localization and function
Bizet, Albane A., Tran-Khanh, Nicolas, Saksena, Anshuman, Liu, Kai, Buschmann, Michael D., Philip, Anie
Published in Journal of cellular biochemistry (01.01.2012)
Published in Journal of cellular biochemistry (01.01.2012)
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Journal Article
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS
Huynh Cong, Evelyne, 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
Published in Journal of the American Society of Nephrology (01.11.2014)
Published in Journal of the American Society of Nephrology (01.11.2014)
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Journal Article
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
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, Di Donato, Natalia, 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
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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Journal Article
CD109 release from the cell surface in human keratinocytes regulates TGF-β receptor expression, TGF-β signalling and STAT3 activation: relevance to psoriasis
Litvinov, Ivan V., Bizet, Albane A., Binamer, Yousef, Jones, David A., Sasseville, Denis, Philip, Anie
Published in Experimental dermatology (01.08.2011)
Published in Experimental dermatology (01.08.2011)
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Journal Article
Identification of CD109 as part of the TGF-β receptor system in human keratinocytes
Finnson, Kenneth W, Tam, Betty Y.Y, Liu, Kai, Marcoux, Anne, Lepage, Pierre, Roy, Stephane, Bizet, Albane A, Philip, Anie
Published in The FASEB journal (01.07.2006)
Published in The FASEB journal (01.07.2006)
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Journal Article
A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS
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
Published in Journal of the American Society of Nephrology (01.11.2014)
Published in Journal of the American Society of Nephrology (01.11.2014)
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Journal Article
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis: HUMAN MUTATION
Girard, Muriel, Bizet, Albane A., Lachaux, Alain, Gonzales, Emmanuel, Filhol, Emilie, Collardeau-Frachon, Sophie, Jeanpierre, Cécile, Henry, Charline, Fabre, Monique, Viremouneix, Loic, Galmiche, Louise, Debray, Dominique, Bole-Feysot, Christine, Nitschke, Patrick, Pariente, Danièle, Guettier, Catherine, Lyonnet, Stanislas, Heidet, Laurence, Bertholet, Aurelia, Jacquemin, Emmanuel, Henrion-Caude, Alexandra, Saunier, Sophie
Published in Human mutation (01.10.2016)
Published in Human mutation (01.10.2016)
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Journal Article
CD109 release from the cell surface in human keratinocytes regulates TGF-β receptor expression, TGF-β signalling and STAT3 activation: relevance to psoriasis: CD109 and TGF-β signaling in psoriasis
Litvinov, Ivan V., Bizet, Albane A., Binamer, Yousef, Jones, David A., Sasseville, Denis, Philip, Anie
Published in Experimental dermatology (01.08.2011)
Published in Experimental dermatology (01.08.2011)
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Journal Article
Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis
Saunier, S, Bizet, AA, Silbermann, F, Filhol, E, Blisnick, T, Henneveu, A, Montenont, E, Perrault, I, Boyle-Feysot, C, Rozet, J-M, Bastin, P, Arts, HH, Antignac, C, Benmerah, AR
Published in Cilia (London) (16.11.2012)
Published in Cilia (London) (16.11.2012)
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Journal Article
Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
Perrault, I, Saunier, S, Hanein, S, Filhol, E, Bizet, A, Collins, F, Salih, M, Silva, E, Baudouin, V, Oud, M, Shannon, N, Le Merrer, M, Pietrement, C, Beales, P, Arts, H, Munnich, A, Kaplan, J, Antignac, C, Cormier Daire, V, Rozet, JM
Published in Cilia (16.11.2012)
Published in Cilia (16.11.2012)
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