Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.

Delmaghani, Sedigheh; Defourny, Jean; Aghaie, Asadollah; Beurg, Maryline; Dulon, Didier; Thelen, Nicolas; Perfettini, Isabelle; Zelles, Tibor; Aller, Mate; Meyer, Anaïs; Emptoz, Alice; Giraudet, Fabrice; Leibovici, Michel; Dartevelle, Sylvie; Soubigou, Guillaume; Thiry, Marc; Vizi, E Sylvester; Safieddine, Saaid; Hardelin, Jean-Pierre; Avan, Paul; Petit, Christine.

Cell ; 163(4): 894-906, 2015 Nov 05.

Artigo em Inglês | MEDLINE | ID: mdl-26544938

2.

Deafness: from genetic architecture to gene therapy.

Petit, Christine; Bonnet, Crystel; Safieddine, Saaïd.

Nat Rev Genet ; 24(10): 665-686, 2023 10.

Artigo em Inglês | MEDLINE | ID: mdl-37173518

3.

Genes Involved in the Development and Physiology of Both the Peripheral and Central Auditory Systems.

Michalski, Nicolas; Petit, Christine.

Annu Rev Neurosci ; 42: 67-86, 2019 07 08.

Artigo em Inglês | MEDLINE | ID: mdl-30699050

4.

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.

Proc Natl Acad Sci U S A ; 120(26): e2221744120, 2023 06 27.

Artigo em Inglês | MEDLINE | ID: mdl-37339214

5.

Wrapping up stereocilia rootlets.

Boutet de Monvel, Jacques; Petit, Christine.

Cell ; 141(5): 748-50, 2010 May 28.

Artigo em Inglês | MEDLINE | ID: mdl-20510920

6.

Novel pathogenic WHRN variant causing hearing loss in a moroccan family.

AitRaise, Imane; Amalou, Ghita; Redouane, Salaheddine; Charoute, Hicham; Snoussi, Khalid; Abdelghaffar, Houria; Bonnet, Crystel; Petit, Christine; Barakat, Abdelhamid.

Mol Biol Rep ; 50(12): 10663-10669, 2023 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-37924449

7.

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; Bizaguet, Eric; Coez, Arnaud; Aschard, Hugues; Michalski, Nicolas; Lefevre, Gaëlle M; Aubois, Anne; Avan, Paul; Bonnet, Crystel; Petit, Christine.

Proc Natl Acad Sci U S A ; 117(49): 31278-31289, 2020 12 08.

Artigo em Inglês | MEDLINE | ID: mdl-33229591

8.

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.

AitRaise, Imane; Amalou, Ghita; Bakhchane, Amina; Bousfiha, Amale; Abdelghaffar, Houria; Majida, Charif; Bonnet, Crystel; Petit, Christine; Barakat, Abdelhamid.

Biochem Genet ; 2023 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-37777971

9.

Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.

Salame, Malak; Bonnet, Crystel; Moctar, Ely Cheikh Mohamed; Brahim, Selma Mohamed; Dedy, Abdallahi; Vetah, Ledour Abdel; Veten, Fatimetou; Hamed, Cheikh Tijani; Petit, Christine; Houmeida, Ahmed.

Eur Arch Otorhinolaryngol ; 280(9): 4057-4063, 2023 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-36928321

10.

Central auditory deficits associated with genetic forms of peripheral deafness.

Michalski, Nicolas; Petit, Christine.

Hum Genet ; 141(3-4): 335-345, 2022 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-34435241

11.

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.

AitRaise, Imane; Amalou, Ghita; Bousfiha, Amale; Charoute, Hicham; Rouba, Hassan; Abdelghaffar, Houria; Bonnet, Crystel; Petit, Christine; Barakat, Adbelhamid.

Mol Biol Rep ; 49(5): 3949-3954, 2022 May.

Artigo em Inglês | MEDLINE | ID: mdl-35301649

12.

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage.

Defourny, Jean; Aghaie, Alain; Perfettini, Isabelle; Avan, Paul; Delmaghani, Sedigheh; Petit, Christine.

Proc Natl Acad Sci U S A ; 116(16): 8010-8017, 2019 04 16.

Artigo em Inglês | MEDLINE | ID: mdl-30936319

13.

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.

Avan, Paul; Le Gal, Sébastien; Michel, Vincent; Dupont, Typhaine; Hardelin, Jean-Pierre; Petit, Christine; Verpy, Elisabeth.

Proc Natl Acad Sci U S A ; 116(51): 25948-25957, 2019 12 17.

Artigo em Inglês | MEDLINE | ID: mdl-31776257

14.

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

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.

Proc Natl Acad Sci U S A ; 116(10): 4496-4501, 2019 03 05.

Artigo em Inglês | MEDLINE | ID: mdl-30782832

15.

Examining Resident Power Building in a Place-Based Initiative.

Sabado, Parichart; D'Anna, Laura; Fong, Gisele; Petit, Christine; Wood, Jefferson.

Health Promot Pract ; 23(6): 955-962, 2022 11.

Artigo em Inglês | MEDLINE | ID: mdl-34628971

16.

Phylogenetic analysis of Harmonin homology domains.

Colcombet-Cazenave, Baptiste; Druart, Karen; Bonnet, Crystel; Petit, Christine; Spérandio, Olivier; Guglielmini, Julien; Wolff, Nicolas.

BMC Bioinformatics ; 22(1): 190, 2021 Apr 14.

Artigo em Inglês | MEDLINE | ID: mdl-33853521

17.

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.

Elrharchi, Soukaina; Riahi, Zied; Salime, Sara; Charoute, Hicham; Elkhattabi, Lamiae; Boulouiz, Redouane; Kabine, Mostafa; Bonnet, Crystel; Petit, Christine; Barakat, Abdelhamid.

Hum Hered ; 85(1): 35-39, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-33486474

18.

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.

Fakin, Ana; Bonnet, Crystel; Kurtenbach, Anne; Mohand-Said, Saddek; Zobor, Ditta; Stingl, Katarina; Testa, Francesco; Simonelli, Francesca; Sahel, José-Alain; Audo, Isabelle; Zrenner, Eberhart; Hawlina, Marko; Petit, Christine.

Int J Mol Sci ; 22(19)2021 Sep 26.

Artigo em Inglês | MEDLINE | ID: mdl-34638692

19.

Viral Transfer of Mini-Otoferlins Partially Restores the Fast Component of Exocytosis and Uncovers Ultrafast Endocytosis in Auditory Hair Cells of Otoferlin Knock-Out Mice.

Tertrais, Margot; Bouleau, Yohan; Emptoz, Alice; Belleudy, Séverin; Sutton, R Bryan; Petit, Christine; Safieddine, Saaid; Dulon, Didier.

J Neurosci ; 39(18): 3394-3411, 2019 05 01.

Artigo em Inglês | MEDLINE | ID: mdl-30833506

20.

Auditory distortions: origins and functions.

Avan, Paul; Büki, Béla; Petit, Christine.

Physiol Rev ; 93(4): 1563-619, 2013 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-24137017

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