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Annuaire des publications

AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy
2016
Astra Dinculescu , Rachel M. Stupay , Wen-Tao Deng, Frank M. Dyka, Seok-Hong Min, Sanford L. Boye, Vince A. Chiodo, Carolina E. Abrahan, Ping Zhu, Qiuhong Li, Enrica Strettoi, Elena Novelli, Kerstin Nagel-Wolfrum, [ ... ], William W. Hauswirth
PLoS ONE 11(2): e0148874
Génétique
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0148874
Vue
Adaptive Gaze Strategies for Locomotion with Constricted Visual Field
2017
Colas N. Authié, Alain Berthoz, José-Alain Sahel, Avinoam B. Safran
Front Hum Neurosci. 2017; 11: 387. Published online 2017 Jul 27
Vision
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529417/pdf/fnhum-11-00387.pdf
Vue
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
2016
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač
Eur J Hum Genet. 2016 Jul 27.
Génétique
http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/ejhg201699a.html
Vue
Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction
Baptiste Libé-Philippot, Vincent Michel, Jacques Boutet de Monvel, Sébastien Le Gal, Typhaine Dupont, Paul Avan, Christine Métin, Nicolas Michalski, Christine Petit
Proc Natl Acad Sci U S A. 2017 Jul 25;114(30):7765-7774
Audition
http://www.pnas.org/content/114/30/7765.long
Vue
CEP78 is mutated in a distinct type of Usher syndrome
2016
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen
J Med Genet jmedgenet-2016-104166
Génétique
http://jmg.bmj.com/content/early/2016/09/14/jmedgenet-2016-104166.abstract
Vue
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
2017
Vincent Michel, Kevin T Booth, Pranav Patni, Matteo Cortese, Hela Azaiez, Amel Bahloul, Kimia Kahrizi, Ménélik Labbé, Alice Emptoz, Andrea Lelli, Julie Dégardin, Typhaine Dupont, Asadollah Aghaie, Danuta Oficjalska‐Pham, Serge Picaud, Hossein Najmabadi, Richard J Smith, Michael R Bowl, Steven DM Brown, Paul Avan, Christine Petit, Aziz El‐Amraoui
EMBO Mol Med. 2017 Dec;9(12):1711-1731.
Audition
http://embomolmed.embopress.org/content/9/12/1711.long
Vue
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.
2016
Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch-Grau M, Aghaie A, Perfettini I, Dupont T, Avan P, El-Amraoui A, Petit C.
J Cell Biol. 2016 Jan 18;212(2):231-44.
Génétique
Vue
Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments
2018
Alix Trouillet, Elisabeth Dubus, Julie Dégardin, Amrit Estivalet, Ivana Ivkovic, David Godefroy, Diego García-Ayuso, Manuel Simonutti, Iman Sahly, José A. Sahel, Aziz El-Amraoui, Christine Petit, Serge Picaud
Scientific Reportsvolume 8, Article number: 1968 (2018)
Vision
Vision
https://www.nature.com/articles/s41598-018-20171-0
Vue
Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery
Amel Bahloul, Elise Pepermans, Bertrand Raynal, Nicolas Wolff, Florence Cordier, Patrick England, Sylvie Nouaille, Bruno Baron, Aziz El‐Amraoui, Jean‐Pierre Hardelin, Dominique Durand, Christine Petit
FEBS Lett. 2017 Aug;591(15):2299-2310
Génétique
https://febs.onlinelibrary.wiley.com/doi/abs/10.1002/1873-3468.12729
Vue
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
2016
Abdi S, Bahloul A, Behlouli A, Hardelin JP, Makrelouf M, Boudjelida K, Louha M, Cheknene A, Belouni R, Rous Y, Merad Z, Selmane D, Hasbelaoui M, Bonnet C, Zenati A, Petit C.
PLoS One. 2016 Sep 1;11(9):e0161893.
Génétique
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161893
Vue
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G
2017
Alice Emptoz, Vincent Michel, Andrea Lelli, Omar Akil, Jacques Boutet de Monvel, Ghizlene Lahlou, Anaïs Meyer, Typhaine Dupont, Sylvie Nouaille, Elody Ey, Filipa Franca de Barros, Mathieu Beraneck, Didier Dulon, Jean-Pierre Hardelin, Lawrence Lustig, Paul Avan, Christine Petit, Saaid Safieddine
Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9695-9700
Vestibule
http://www.pnas.org/content/114/36/9695.long
Vue
Monitoring the evolution of boron doped porous diamond electrode on flexible retinal implant by OCT and in vivo impedance spectroscopy.
2016
Hébert C, Cottance M, Degardin J, Scorsone E, Rousseau L, Lissorgues G, Bergonzo P, Picaud S.
Mater Sci Eng C Mater Biol Appl. 2016 Dec 1;69:77-84.
Vision
http://www.sciencedirect.com/science/article/pii/S0928493116306014
Vue
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
2016
Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C.
Am J Hum Genet. 2016 Jun 2;98(6):1266-70
Génétique
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738386/
Vue
Quantitative and Topographical Analysis of the Losses of Cone Photoreceptors and Retinal Ganglion Cells Under Taurine Depletion.
2016
Hadj-Saïd W, Froger N, Ivkovic I, Jiménez-López M, Dubus É, Dégardin-Chicaud J, Simonutti M, Quénol C, Neveux N, Villegas-Pérez MP, Agudo-Barriuso M, Vidal-Sanz M, Sahel JA, Picaud S, García-Ayuso D.
Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4692-703.
Vision
https://www.ncbi.nlm.nih.gov/pubmed/27607415
Vue
Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians
2017
Matteo Cortese, Samantha Papal, Francisco Pisciottano, Ana Belén Elgoyhen, Jean-Pierre Hardelin, Christine Petit, Lucia Florencia Franchini, Aziz El-Amraoui
Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):2054-2059
http://www.pnas.org/content/114/8/2054.long
Vue
The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals
2016
Tongchao Li Nikolaos Giagtzoglou Daniel F Eberl Sonal Nagarkar Jaiswal Tiantian Cai Dorothea Godt Andrew K Groves Hugo J Bellen
eLife 2016;5:e15258
Génétique
https://elifesciences.org/content/5/e15258/article-info
Vue
Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment
2017
Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit
J Cell Biol. 2017 Jun 5;216(6):1849-1864
Génétique
http://jcb.rupress.org/content/216/6/1849.long
Vue

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