Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

por Bahloul, Amel, Michel, Vincent, Hardelin, Jean-Pierre, Nouaille, Sylvie, Hoos, Sylviane, Houdusse, Anne, England, Patrick, Petit, Christine
Publicado 2010

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

por Dahmani, Malika, Ammar-Khodja, Fatima, Bonnet, Crystel, Lefèvre, Gaelle M., Hardelin, Jean-Pierre, Ibrahim, Hassina, Mallek, Zahia, Petit, Christine
Publicado 2015

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

por Ammar-Khodja, Fatima, Bonnet, Crystel, Dahmani, Malika, Ouhab, Sofiane, Lefèvre, Gaelle M, Ibrahim, Hassina, Hardelin, Jean-Pierre, Weil, Dominique, Louha, Malek, Petit, Christine
Publicado 2015

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions

por Verpy, Elisabeth, Weil, Dominique, Leibovici, Michel, Goodyear, Richard J., Hamard, Ghislaine, Houdon, Carine, Lefèvre, Gaelle M., Hardelin, Jean-Pierre, Richardson, Guy P., Avan, Paul, Petit, Christine
Publicado 2008

Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery

por Bahloul, Amel, Pepermans, Elise, Raynal, Bertrand, Wolff, Nicolas, Cordier, Florence, England, Patrick, Nouaille, Sylvie, Baron, Bruno, El‐Amraoui, Aziz, Hardelin, Jean‐Pierre, Durand, Dominique, Petit, Christine
Publicado 2017

Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells

por Michel, Vincent, Pepermans, Elise, Boutet de Monvel, Jacques, England, Patrick, Nouaille, Sylvie, Aghaie, Alain, Delhommel, Florent, Wolff, Nicolas, Perfettini, Isabelle, Hardelin, Jean-Pierre, Petit, Christine, Bahloul, Amel
Publicado 2020

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

por Behlouli, Asma, Bonnet, Crystel, Abdi, Samia, Bouaita, Aïcha, Lelli, Andrea, Hardelin, Jean-Pierre, Schietroma, Cataldo, Rous, Yahia, Louha, Malek, Cheknane, Ahmed, Lebdi, Hayet, Boudjelida, Kamel, Makrelouf, Mohamed, Zenati, Akila, Petit, Christine
Publicado 2014

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

por Akil, Omar, Dyka, Frank, Calvet, Charlotte, Emptoz, Alice, Lahlou, Ghizlene, Nouaille, Sylvie, Boutet de Monvel, Jacques, Hardelin, Jean-Pierre, Hauswirth, William W., Avan, Paul, Petit, Christine, Safieddine, Saaid, Lustig, Lawrence R.
Publicado 2019

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells

por Bahloul, Amel, Simmler, Marie-Christine, Michel, Vincent, Leibovici, Michel, Perfettini, Isabelle, Roux, Isabelle, Weil, Dominique, Nouaille, Sylvie, Zuo, Jian, Zadro, Cristina, Licastro, Danilo, Gasparini, Paolo, Avan, Paul, Hardelin, Jean-Pierre, Petit, Christine
Publicado 2009

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

por Pepermans, Elise, Michel, Vincent, Goodyear, Richard, Bonnet, Crystel, Abdi, Samia, Dupont, Typhaine, Gherbi, Souad, Holder, Muriel, Makrelouf, Mohamed, Hardelin, Jean-Pierre, Marlin, Sandrine, Zenati, Akila, Richardson, Guy, Avan, Paul, Bahloul, Amel, Petit, Christine
Publicado 2014

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

por Abdi, Samia, Bahloul, Amel, Behlouli, Asma, Hardelin, Jean-Pierre, Makrelouf, Mohamed, Boudjelida, Kamel, Louha, Malek, Cheknene, Ahmed, Belouni, Rachid, Rous, Yahia, Merad, Zahida, Selmane, Djamel, Hasbelaoui, Mokhtar, Bonnet, Crystel, Zenati, Akila, Petit, Christine
Publicado 2016

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

por Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Lahbib, Saida, Bouyacoub, Yosra, Bechraoui, Rym, Marrakchi, Jihène, Hardelin, Jean-Pierre, Louha, Malek, Largueche, Leila, Ben Yahia, Salim, Kheirallah, Moncef, Elmatri, Leila, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine
Publicado 2015

Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells

por Michalski, Nicolas, Michel, Vincent, Caberlotto, Elisa, Lefèvre, Gaelle M., van Aken, Alexander F. J., Tinevez, Jean-Yves, Bizard, Emilie, Houbron, Christophe, Weil, Dominique, Hardelin, Jean-Pierre, Richardson, Guy P., Kros, Corné J., Martin, Pascal, Petit, Christine
Publicado 2009

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

por 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
Publicado 2012

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

por Dodé, Catherine, Teixeira, Luis, Levilliers, Jacqueline, Fouveaut, Corinne, Bouchard, Philippe, Kottler, Marie-Laure, Lespinasse, James, Lienhardt-Roussie, Anne, Mathieu, Michèle, Moerman, Alexandre, Morgan, Graeme, Murat, Arnaud, Toublanc, Jean-Edmont, Wolczynski, Slawomir, Delpech, Marc, Petit, Christine, Young, Jacques, Hardelin, Jean-Pierre
Publicado 2006

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

por Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Louha, Malek, Bouyacoub, Yosra, Laroussi, Nadia, Chargui, Mariem, Kefi, Rym, Jonard, Laurence, Dorboz, Imen, Hardelin, Jean-Pierre, Salah, Sihem Belhaj, Levilliers, Jacqueline, Weil, Dominique, McElreavey, Kenneth, Boespflug, Odile Tanguy, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine
Publicado 2014

Otoferlin acts as a Ca(2+) sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses

por Michalski, Nicolas, Goutman, Juan D, Auclair, Sarah Marie, Boutet de Monvel, Jacques, Tertrais, Margot, Emptoz, Alice, Parrin, Alexandre, Nouaille, Sylvie, Guillon, Marc, Sachse, Martin, Ciric, Danica, Bahloul, Amel, Hardelin, Jean-Pierre, Sutton, Roger Bryan, Avan, Paul, Krishnakumar, Shyam S, Rothman, James E, Dulon, Didier, Safieddine, Saaid, Petit, Christine
Publicado 2017

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

por Hanchate, Naresh Kumar, Giacobini, Paolo, Lhuillier, Pierre, Parkash, Jyoti, Espy, Cécile, Fouveaut, Corinne, Leroy, Chrystel, Baron, Stéphanie, Campagne, Céline, Vanacker, Charlotte, Collier, Francis, Cruaud, Corinne, Meyer, Vincent, García-Piñero, Alfons, Dewailly, Didier, Cortet-Rudelli, Christine, Gersak, Ksenija, Metz, Chantal, Chabrier, Gérard, Pugeat, Michel, Young, Jacques, Hardelin, Jean-Pierre, Prevot, Vincent, Dodé, Catherine
Publicado 2012

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

por 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
Publicado 2016

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

por Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise
Publicado 2011