Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment
Schietroma, Cataldo, Parain, Karine, Estivalet, Amrit, Aghaie, Asadollah, Boutet de Monvel, Jacques, Picaud, Serge, Sahel, José-Alain, Perron, Muriel, El-Amraoui, Aziz, Petit, Christine
Published in The Journal of cell biology (05.06.2017)
Published in The Journal of cell biology (05.06.2017)
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Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice
Sahly, Iman, Dufour, Eric, Schietroma, Cataldo, Michel, Vincent, Bahloul, Amel, Perfettini, Isabelle, Pepermans, Elise, Estivalet, Amrit, Carette, Diane, Aghaie, Asadollah, Ebermann, Inga, Lelli, Andrea, Iribarne, Maria, Hardelin, Jean-Pierre, Weil, Dominique, Sahel, José-Alain, El-Amraoui, Aziz, Petit, Christine
Published in The Journal of cell biology (15.10.2012)
Published in The Journal of cell biology (15.10.2012)
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Journal Article
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
Zeitz, Christina, Méjécase, Cécile, Michiels, Christelle, Condroyer, Christel, Wohlschlegel, Juliette, Foussard, Marine, Antonio, Aline, Démontant, Vanessa, Emmenegger, Lisa, Schalk, Audrey, Neuillé, Marion, Orhan, Elise, Augustin, Sébastien, Bonnet, Crystel, Estivalet, Amrit, Blond, Frédéric, Blanchard, Steven, Andrieu, Camille, Chantot-Bastaraud, Sandra, Léveillard, Thierry, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle
Published in International journal of molecular sciences (01.08.2021)
Published in International journal of molecular sciences (01.08.2021)
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The SNARE protein SNAP-25 is required for normal exocytosis at auditory hair cell ribbon synapses
Calvet, Charlotte, Peineau, Thibault, Benamer, Najate, Cornille, Maxence, Lelli, Andrea, Plion, Baptiste, Lahlou, Ghizlène, Fanchette, Julia, Nouaille, Sylvie, Boutet de Monvel, Jacques, Estivalet, Amrit, Jean, Philippe, Michel, Vincent, Sachse, Martin, Michalski, Nicolas, Avan, Paul, Petit, Christine, Dulon, Didier, Safieddine, Saaid
Published in iScience (22.12.2022)
Published in iScience (22.12.2022)
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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Glucocorticoids Inhibit Basal and Hormone-Induced Serotonin Synthesis in Pancreatic Beta Cells
Hasni Ebou, Moina, Singh-Estivalet, Amrit, Launay, Jean-Marie, Callebert, Jacques, Tronche, François, Ferré, Pascal, Gautier, Jean-François, Guillemain, Ghislaine, Bréant, Bernadette, Blondeau, Bertrand, Riveline, Jean-Pierre
Published in PloS one (2016)
Published in PloS one (2016)
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Novel transgenic mice for inducible gene overexpression in pancreatic cells define glucocorticoid receptor-mediated regulations of beta cells
Blondeau, Bertrand, Sahly, Iman, Massouridès, Emmanuelle, Singh-Estivalet, Amrit, Valtat, Bérengère, Dorchene, Delphine, Jaisser, Frédéric, Bréant, Bernadette, Tronche, Francois
Published in PloS one (17.02.2012)
Published in PloS one (17.02.2012)
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Correction: Glucocorticoids Inhibit Basal and Hormone-Induced Serotonin Synthesis in Pancreatic Beta Cells
Ebou, Moina Hasni, Singh-Estivalet, Amrit, Launay, Jean-Marie, Callebert, Jacques, Tronche, François, Ferré, Pascal, Gautier, Jean-François, Guillemain, Ghislaine, Bréant, Bernadette, Blondeau, Bertrand, Riveline, Jean-Pierre
Published in PloS one (2016)
Published in PloS one (2016)
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Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies
Jean, Philippe, Wong Jun Tai, Fabienne, Singh-Estivalet, Amrit, Lelli, Andrea, Scandola, Cyril, Megharba, Sébastien, Schmutz, Sandrine, Roux, Solène, Mechaussier, Sabrina, Sudres, Muriel, Mouly, Enguerran, Heritier, Anne-Valérie, Bonnet, Crystel, Mallet, Adeline, Novault, Sophie, Libri, Valentina, Petit, Christine, Michalski, Nicolas
Published in Proceedings of the National Academy of Sciences - PNAS (27.06.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (27.06.2023)
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Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis
Boucher, Sophie, Tai, Fabienne Wong Jun, Delmaghani, Sedigheh, Lelli, Andrea, Singh-Estivalet, Amrit, Dupont, Typhaine, Niasme-Grare, Magali, Michel, Vincent, Wolff, Nicolas, Bahloul, Amel, Bouyacoub, Yosra, Bouccara, Didier, Fraysse, Bernard, Deguine, Olivier, Collet, Lionel, Thai-Van, Hung, Ionescu, Eugen, Kemeny, Jean-Louis, Giraudet, Fabrice, Lavieille, Jean-Pierre, Devèze, Arnaud, Roudevitch-Pujol, Anne-Laure, Vincent, Christophe, Renard, Christian, Franco-Vidal, Valérie, Thibult-Apt, Claire, Darrouzet, Vincent, Bizaguett, Eric, Coez, Arnaud, Aschard, Hugues, Michalski, Nicolas, Lefevre, Gaëlle M., Aubois, Anne, Avan, Paul, Bonnet, Crystel, Petit, Christine
Published in Proceedings of the National Academy of Sciences - PNAS (08.12.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (08.12.2020)
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Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment
Salame, Malak, Bonnet, Crystel, Singh-Estivalet, Amrit, Brahim, Selma Mohamed, Roux, Solene, Boussaty, Ely Cheikh, Hadrami, Mouna, Hamed, Cheikh Tijani, Sidi, Abdellahi M’hamed, Veten, Fatimetou, Petit, Christine, Houmeida, Ahmed
Published in Journal of applied genetics (04.09.2024)
Published in Journal of applied genetics (04.09.2024)
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Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments
Trouillet, Alix, Dubus, Elisabeth, Dégardin, Julie, Estivalet, Amrit, Ivkovic, Ivana, Godefroy, David, García-Ayuso, Diego, Simonutti, Manuel, Sahly, Iman, Sahel, José A, El-Amraoui, Aziz, Petit, Christine, Picaud, Serge
Published in Scientific reports (31.01.2018)
Published in Scientific reports (31.01.2018)
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Fetal PGC-1α Overexpression Programs Adult Pancreatic β-Cell Dysfunction
VALTAT, Bérengère, RIVELINE, Jean-Pierre, GAUTIER, Jean-François, BREANT, Bernadette, BLONDEAU, Bertrand, PING ZHANG, SINGH-ESTIVALET, Amrit, ARMANET, Mathieu, VENTECLEF, Nicolas, BESSEICHE, Adrien, KELLY, Daniel P, TRONCHE, François, FERRE, Pascal
Published in Diabetes (New York, N.Y.) (01.04.2013)
Published in Diabetes (New York, N.Y.) (01.04.2013)
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Fetal PGC-1[alpha] overexpression programs adult pancreatic [beta]-cell dysfunction
Valtat, Berengere, Riveline, Jean-Pierre, Zhang, Ping, Singh-Estivalet, Amrit, Armanet, Mathieu, Venteclef, Nicolas, Besseiche, Adrien, Kelly, Daniel P, Tronche, Francois, Ferre, Pascal, Gautier, Jean-Francois, Breant, Bernadette, Blondeau, Bertrand
Published in Diabetes (New York, N.Y.) (01.04.2013)
Published in Diabetes (New York, N.Y.) (01.04.2013)
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Journal Article
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice: Usher 1 retinal pathogenesis
Sahly, Iman, Dufour, Eric, Schietroma, Cataldo, Michel, Vincent, Bahloul, Amel, Perfettini, Isabelle, Pepermans, Elise, Estivalet, Amrit, Carette, Diane, Aghaie, Asadollah, Ebermann, Inga, Lelli, Andrea, Iribarne, Maria, Hardelin, Jean-Pierre, Weil, Dominique, Sahel, José-Alain, El-Amraoui, Aziz, Petit, Christine
Published in The Journal of cell biology (15.10.2012)
Published in The Journal of cell biology (15.10.2012)
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