Publications by authors named "Christine Petit"

100Publications

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.

Int J Pediatr Otorhinolaryngol 2020 Nov 2:110481. Epub 2020 Nov 2.

Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2020.110481DOI Listing
November 2020

Spontaneous Mouse Behavior in Presence of Dissonance and Acoustic Roughness.

Front Behav Neurosci 2020 8;14:588834. Epub 2020 Oct 8.

Institut de l'Audition, Institut Pasteur, INSERM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnbeh.2020.588834DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578920PMC
October 2020

SpiCee: A Genetic Tool for Subcellular and Cell-Specific Calcium Manipulation.

Cell Rep 2020 Jul;32(3):107934

Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2020.107934DOI Listing
July 2020

Clinical and Haplotypic Variability of Slovenian Patients Homozygous for the c. 11864G>A Nonsense Mutation.

Genes (Basel) 2019 12 5;10(12). Epub 2019 Dec 5.

Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10121015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947556PMC
December 2019

Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness.

Hum Hered 2019 4;84(3):109-116. Epub 2019 Dec 4.

Laboratoire de Génomique et Génétique Humaine, Institut Pasteur du Maroc, Casablanca, Morocco,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000503450DOI Listing
May 2020

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

Proc Natl Acad Sci U S A 2019 12 27;116(51):25948-25957. Epub 2019 Nov 27.

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, INSERM UMRS 1120, 75015 Paris, France;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1902781116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926040PMC
December 2019

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.

Genes (Basel) 2019 11 21;10(12). Epub 2019 Nov 21.

Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10120956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947471PMC
November 2019

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis.

Int J Pediatr Otorhinolaryngol 2020 Feb 9;129:109772. Epub 2019 Nov 9.

Institut de La Vision, UMRS 1120 INSERM/UPMC. Paris 6, Paris, France; Institut Pasteur, Unité de Génétique et Physiologie de L'Audition, Paris, France; Collège de France, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2019.109772DOI Listing
February 2020

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.

Mol Vis 2019 13;25:373-381. Epub 2019 Jul 13.

Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, Université des Sciences de Technologies et de médecine (USTM), Nouakchott, Mauritanie.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639433PMC
April 2020

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Doc Ophthalmol 2019 10 2;139(2):151-160. Epub 2019 Jul 2.

Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10633-019-09704-8DOI Listing
October 2019

SponGee: A Genetic Tool for Subcellular and Cell-Specific cGMP Manipulation.

Cell Rep 2019 06;27(13):4003-4012.e6

Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2019.05.102DOI Listing
June 2019

The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.

Int J Pediatr Otorhinolaryngol 2019 Sep 4;124:157-160. Epub 2019 Jun 4.

Equipe de Génétique, Laboratoire de Biologie Cellulaire et Moléculaire, Faculté des Sciences Biologiques, Université des Sciences et de la Technologie Houari Boumediene (USTHB), POB32 ElAlia, 16111, Bab Ezzouar, Alger, Algeria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2019.05.036DOI Listing
September 2019

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

Proc Natl Acad Sci U S A 2019 04 1;116(16):8010-8017. Epub 2019 Apr 1.

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France;

View Article

Download full-text PDF

Source
http://www.pnas.org/lookup/doi/10.1073/pnas.1821844116
Publisher Site
http://dx.doi.org/10.1073/pnas.1821844116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6475433PMC
April 2019

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.

J Neurosci 2019 05 4;39(18):3394-3411. Epub 2019 Mar 4.

Neurophysiologie de la Synapse Auditive, Institut National de la Santé et de la Recherche Médicale, UMR 1120, Université de Bordeaux, 33076 Bordeaux, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1523/JNEUROSCI.1550-18.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6495124PMC
May 2019

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

Proc Natl Acad Sci U S A 2019 03 19;116(10):4496-4501. Epub 2019 Feb 19.

Department of Otolaryngology-Head and Neck Surgery, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY 10032.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1817537116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410774PMC
March 2019

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

Annu Rev Neurosci 2019 07 30;42:67-86. Epub 2019 Jan 30.

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France; email: ,

View Article

Download full-text PDF

Source
https://www.annualreviews.org/doi/10.1146/annurev-neuro-0709
Publisher Site
http://dx.doi.org/10.1146/annurev-neuro-070918-050428DOI Listing
July 2019

Hair-Bundle Links: Genetics as the Gateway to Function.

Cold Spring Harb Perspect Med 2019 12 2;9(12). Epub 2019 Dec 2.

Institut Pasteur, 75724 Paris Cedex 15, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a033142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886453PMC
December 2019

A novel missense mutation of causes congenital cataract in a large Mauritanian family.

Eur J Ophthalmol 2019 Nov 29;29(6):621-628. Epub 2018 Oct 29.

Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, Université des Sciences de Technologies et de médecine (USTM), Nouakchott, Mauritanie.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1120672118804757DOI Listing
November 2019

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.

Int J Pediatr Otorhinolaryngol 2018 Oct 10;113:46-50. Epub 2018 Jul 10.

Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2018.07.010DOI Listing
October 2018

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.

Int J Pediatr Otorhinolaryngol 2018 Sep 12;112:1-5. Epub 2018 Jun 12.

Inserm UMRS 1120 /Institut Pasteur/Sorbonne University, Paris, France; Collège de France, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2018.06.012DOI Listing
September 2018

Usher Syndrome and Color Vision.

Curr Eye Res 2018 10 30;43(10):1295-1301. Epub 2018 Jul 30.

a Centre for Ophthalmology, Institute for Ophthalmic Research , University of Tuebingen , Tuebingen , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/02713683.2018.1501804DOI Listing
October 2018

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.

Gene 2018 Jun 15;659:89-92. Epub 2018 Mar 15.

Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03781119183027
Publisher Site
http://dx.doi.org/10.1016/j.gene.2018.03.042DOI Listing
June 2018

Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis.

Biomarkers 2018 May - Jun;23(4):347-356. Epub 2018 Jan 31.

a Laboratoire de Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax , Université de Sfax , Sfax , Tunisie.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/1354750X.2018.1427795DOI Listing
September 2018

Structural Characterization of Whirlin Reveals an Unexpected and Dynamic Supramodule Conformation of Its PDZ Tandem.

Structure 2017 11 28;25(11):1645-1656.e5. Epub 2017 Sep 28.

CNRS, UMR 3528, 75015 Paris, France; Unité de Résonance Magnétique Nucléaire des Biomolécules, Institut Pasteur, 75015 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.str.2017.08.013DOI Listing
November 2017

A novel mutation in a Moroccan family with Zellweger spectrum disorders.

Hum Genome Var 2017 13;4:17009. Epub 2017 Apr 13.

Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2017.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390255PMC
April 2017

Different Ca1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells.

J Neurosci 2017 03 13;37(11):2960-2975. Epub 2017 Feb 13.

Université de Bordeaux, Institut des Neurosciences de Bordeaux, Equipe Neurophysiologie de la Synapse Auditive, Inserm, Unité Mixte de Recherche en Santé 1120, Centre Hospitalier Universitaire Hôpital Pellegrin, 33076 Bordeaux, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1523/JNEUROSCI.2374-16.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6596729PMC
March 2017

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.

Retina 2017 Aug;37(8):1581-1590

*Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Second University of Naples, Naples, Italy; †Institut de la Vision, UMRS 1120 INSERM/UPMC, Paris, France; ‡Audiology Unit, Department of Neuroscience, Reproductive and Odontostomatologic Sciences, University of Naples Federico II, Naples, Italy; §Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany; ¶Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy; **Medical Genetics, Department of Translational Medicine, Federico II University, Naples, Italy; and ††Institut Pasteur, Collège de France, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IAE.0000000000001389DOI Listing
August 2017

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

Mol Vis 2016 19;22:827-35. Epub 2016 Jul 19.

Laboratoire de Procédés de criblage moléculaire et cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Tunisie.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950652PMC
January 2018

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

Int J Pediatr Otorhinolaryngol 2016 Aug 20;87:28-33. Epub 2016 May 20.

INSERM UMRS1120, Sorbonne Universités, UPMC Université Paris 06, Institut de la Vision, Paris, France; Unité de Génétique et Physiologie de l'Audition, INSERM UMRS1120, Institut Pasteur, Paris, France; Collège de France, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01655876163011
Publisher Site
http://dx.doi.org/10.1016/j.ijporl.2016.04.040DOI Listing
August 2016

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

Am J Hum Genet 2016 06;98(6):1266-1270

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France; UMRS 1120, Institut National de la Santé et de la Recherche Médicale, 75015 Paris, France; Sorbonne Universités, Université Pierre et Marie Curie, Complexité du Vivant, 75005 Paris, France; Syndrome de Usher et Autres Atteintes Rétino-Cochléaires, Institut de la Vision, 75012 Paris, France; Collège de France, 75005 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908234PMC
June 2016

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.

J Cell Biol 2016 Jan 11;212(2):231-44. Epub 2016 Jan 11.

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75724 Paris, Cedex 15, France Unité Mixte de Recherche UMRS1120, Institut National de la Santé et de la Recherche Médicale, 75015 Paris, France Sorbonne Universités, Université Pierre et Marie Curie (UPMC Paris VI), Complexité du Vivant, 75005 Paris, France Syndrome de Usher et Autres Atteintes Rétino-Cochléaires, Institut de la Vision, 75012 Paris, France Collège de France, 75005 Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1083/jcb.201509017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738386PMC
January 2016

A synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells.

Elife 2015 Nov 14;4. Epub 2015 Nov 14.

Bordeaux Neurocampus, Equipe Neurophysiologie de la Synapse Auditive, Université de Bordeaux, Bordeaux, France.

View Article

Download full-text PDF

Source
https://elifesciences.org/articles/10988
Publisher Site
http://dx.doi.org/10.7554/eLife.10988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4714970PMC
November 2015

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.

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

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France; UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, France; Sorbonne Universités, UPMC Université Paris 06, Complexité du Vivant, 75005 Paris, France; Syndrome de Usher et Autres Atteintes Rétino-Cochléaires, Institut de la Vision, 75012 Paris, France; Collège de France, 75005 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/cell/pdf/S0092-8674(15)01337-9.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S009286741501337
Publisher Site
http://dx.doi.org/10.1016/j.cell.2015.10.023DOI Listing
November 2015

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.

Ann Hum Genet 2015 Nov 29;79(6):402-17. Epub 2015 Sep 29.

Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ahg.12131DOI Listing
November 2015

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

Orphanet J Rare Dis 2015 Aug 19;10:96. Epub 2015 Aug 19.

Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, 75012, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-015-0316-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4539681PMC
August 2015

The tip-link molecular complex of the auditory mechano-electrical transduction machinery.

Hear Res 2015 Dec 3;330(Pt A):10-7. Epub 2015 Jun 3.

Institut Pasteur, Unité de Génétique et Physiologie de l'Audition, 75724 Paris, Cedex 15, France; INSERM UMRS 1120 (Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche en Santé), 75015 Paris, France; Université Pierre et Marie Curie (Paris VI), 75005 Paris, France; Collège de France, 75231 Paris, Cedex 05, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.heares.2015.05.005DOI Listing
December 2015

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

Mol Genet Genomic Med 2015 May 15;3(3):189-96. Epub 2015 Feb 15.

Institut de la Vision, UMRS 1120 INSERM/UPMC/Institut Pasteur Paris, France ; Institut Pasteur, Unité de Génétique et Physiologie de l'Audition UMRS 1120 INSERM/UPMC Paris 6, Paris, France ; Collège de France Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444160PMC
May 2015

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

PLoS One 2015 23;10(3):e0120584. Epub 2015 Mar 23.

Institut de la Vision, INSERM UMRS 1120, UPMC- Paris 6, Paris, France; Institut Pasteur, Unité de Génétique et Physiologie de l'Audition, Paris, France; Collège de France, Paris, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120584PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370767PMC
December 2015

Exocytotic machineries of vestibular type I and cochlear ribbon synapses display similar intrinsic otoferlin-dependent Ca2+ sensitivity but a different coupling to Ca2+ channels.

J Neurosci 2014 Aug;34(33):10853-69

Université de Bordeaux, Institut des Neurosciences de Bordeaux, Equipe Neurophysiologie de la Synapse Auditive, Inserm, Unité Mixte de Recherche 1120, Centre Hospitalier Universitaire hôpital Pellegrin, 33076 Bordeaux, France,

View Article

Download full-text PDF

Source
http://www.jneurosci.org/content/34/33/10853.full.pdf
Web Search
http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.0947-14.2
Publisher Site
http://dx.doi.org/10.1523/JNEUROSCI.0947-14.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705247PMC
August 2014

Specific aspects of consanguinity: some examples from the Tunisian population.

Hum Hered 2014 29;77(1-4):167-74. Epub 2014 Jul 29.

Biomedical Genomics and Oncogenetics Laboratory LR11IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000362167DOI Listing
March 2015

Genetics of auditory mechano-electrical transduction.

Pflugers Arch 2015 Jan 25;467(1):49-72. Epub 2014 Jun 25.

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00424-014-1552-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281357PMC
January 2015

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

EMBO Mol Med 2014 Jul;6(7):984-92

Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France UMRS 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France Université Pierre et Marie Curie (Paris VI), Paris, France Syndrome de Usher et autres Atteintes Rétino-Cochléaires, Institut de la vision, Paris, France Collège de France, Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15252/emmm.201403976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119359PMC
July 2014

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells.

Proc Natl Acad Sci U S A 2014 Jun 11;111(25):9307-12. Epub 2014 Jun 11.

Institut Pasteur, Génétique et Physiologie de l'Audition, 75015 Paris, France;Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche, UMR-S 1120 Paris, France;Sorbonne Universités, UPMC Univ Paris 06, Complexité Du Vivant, 75252 Paris Cedex 05, France;Collège de France, 75005 Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1405322111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078795PMC
June 2014

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.

C R Biol 2014 Mar 20;337(3):167-77. Epub 2014 Mar 20.

Institut Pasteur, unité de génétique et physiologie de l'audition, 25, rue du Docteur-Roux, 75015 Paris, France; Inserm UMRS1120, 75015 Paris, France; UPMC, 75015 Paris, France; Collège de France, 75005 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.crvi.2013.12.004DOI Listing
March 2014

[Gene therapy for human hearing loss: challenges and promises].

Med Sci (Paris) 2013 Oct 18;29(10):883-9. Epub 2013 Oct 18.

Institut Pasteur, unité de génétique et physiologie de l'audition, 25, rue du Docteur Roux, 75724 Paris Cedex 15, France - Inserm UMRS 1120, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/20132910016DOI Listing
October 2013

Auditory distortions: origins and functions.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/physrev.00029.2012DOI Listing
October 2013

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.

Hum Mol Genet 2013 Sep 23;22(18):3773-88. Epub 2013 May 23.

Institut Pasteur, Unité de génétique et physiologie de l'audition, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt228DOI Listing
September 2013

Cadherin defects in inherited human diseases.

Prog Mol Biol Transl Sci 2013 ;116:361-84

Institut Pasteur, Unité de Génétique et Physiologie de l'Audition, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-12-394311-8.00016-9DOI Listing
November 2013

Hearing is normal without connexin30.

J Neurosci 2013 Jan;33(2):430-4

Collège de France, Centre Interdisciplinaire de Recherche en Biologie (CIRB)/Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 7241/Institut National de la Santé et de la Recherche Médicale (Inserm), U1050, 75231 Paris cedex 05, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1523/JNEUROSCI.4240-12.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704917PMC
January 2013

Neurogenetics.

Curr Opin Neurobiol 2013 Feb 22;23(1):1-2. Epub 2012 Dec 22.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.conb.2012.12.001DOI Listing
February 2013

Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2.

Vision Res 2012 Dec 18;75:60-70. Epub 2012 Sep 18.

Eye Hospital, University Medical Centre Ljubljana, Grablovičeva 46, 1000 Ljubljana, Slovenia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.visres.2012.08.017DOI Listing
December 2012

The auditory hair cell ribbon synapse: from assembly to function.

Annu Rev Neurosci 2012 ;35:509-28

Institut Pasteur, Unité de Génétique et Physiologie de l'Audition, F75015, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1146/annurev-neuro-061010-113705DOI Listing
November 2012

Coupling of the mechanotransduction machinery and F-actin polymerization in the cochlear hair bundles.

Bioarchitecture 2011 Jul 1;1(4):169-174. Epub 2011 Jul 1.

Unité de Génétique et Physiologie de l'Audition; Inserm UMRS587-Université Paris VI; Institut Pasteur; Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/bioa.1.4.17532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3210516PMC
July 2011

[Stem cell therapy in the inner ear: recent achievements and prospects].

Med Sci (Paris) 2010 Nov;26(11):981-5

Institut Pasteur, Unité de génétique et physiologie de l'audition, INSERM UMRS587, UPMC Paris 06, 25 rue du Docteur Roux, Paris, France.

View Article

Download full-text PDF

Source
http://www.medecinesciences.org/10.1051/medsci/20102611981
Publisher Site
http://dx.doi.org/10.1051/medsci/20102611981DOI Listing
November 2010

How the genetics of deafness illuminates auditory physiology.

Annu Rev Physiol 2011 ;73:311-34

School of Life Sciences, University of Sussex, Brighton, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1146/annurev-physiol-012110-142228DOI Listing
July 2011

Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells.

J Neurosci 2010 Oct;30(40):13281-90

Equipe Neurophysiologie de la Synapse Auditive, Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Récherche Scientifique 587, Université Victor Segalen and Institut des Neurosciences de Bordeaux, Centre Hospitalier Universitaire Pellegrin, 33076 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1523/JNEUROSCI.2528-10.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088501PMC
October 2010

Wrapping up stereocilia rootlets.

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

Unité de Génétique et Physiologie de l'Audition, Département de Neuroscience, Institut Pasteur, 75724 Paris Cedex 15, France; Inserm UMRS 587, Paris, France.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S009286741000558
Publisher Site
http://dx.doi.org/10.1016/j.cell.2010.05.022DOI Listing
May 2010

Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape.

Development 2010 Apr;137(8):1373-83

Unité de Génétique et Physiologie de l'Audition, INSERM UMRS587-Université Paris VI, Institut Pasteur, 25 rue du Dr Roux, Paris Cedex 15, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1242/dev.045138DOI Listing
April 2010

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Biochem Biophys Res Commun 2010 Apr 16;394(3):737-42. Epub 2010 Mar 16.

AP-HP, Service de Génétique Clinique, Hôpital Armand-Trousseau, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2010.03.062DOI Listing
April 2010

Cadherins as targets for genetic diseases.

Cold Spring Harb Perspect Biol 2010 Jan;2(1):a003095

Institut Pasteur, Unité de Génétique et Physiologie de l'Audition, 25 Rue du Dr Roux, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a003095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827896PMC
January 2010