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1Academic Journal
المؤلفون: Charlotte Calvet, Thibault Peineau, Najate Benamer, Maxence Cornille, Andrea Lelli, Baptiste Plion, Ghizlène Lahlou, Julia Fanchette, Sylvie Nouaille, Jacques Boutet de Monvel, Amrit Estivalet, Philippe Jean, Vincent Michel, Martin Sachse, Nicolas Michalski, Paul Avan, Christine Petit, Didier Dulon, Saaid Safieddine
المصدر: iScience, Vol 25, Iss 12, Pp 105628- (2022)
مصطلحات موضوعية: Biological sciences, Neuroscience, Sensory neuroscience, Science
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Nicolas Michalski, Juan D Goutman, Sarah Marie Auclair, Jacques Boutet de Monvel, Margot Tertrais, Alice Emptoz, Alexandre Parrin, Sylvie Nouaille, Marc Guillon, Martin Sachse, Danica Ciric, Amel Bahloul, Jean-Pierre Hardelin, Roger Bryan Sutton, Paul Avan, Shyam S Krishnakumar, James E Rothman, Didier Dulon, Saaid Safieddine, Christine Petit
المصدر: eLife, Vol 6 (2017)
مصطلحات موضوعية: deafness, neurotransmitter release, synaptic exocytotic machinery, synaptopathy, temporal precision, inner hair cell, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Omar Akil, Saaid Safieddine, Jacques Boutet de Monvel, Charlotte Calvet, Frank M. Dyka, Ghizlene Lahlou, Sylvie Nouaille, Jean-Pierre Hardelin, Paul Avan, Alice Emptoz, Christine Petit, William W. Hauswirth, Lawrence R. Lustig
المساهمون: University of California [San Francisco] (UC San Francisco), University of California (UC), University of Florida [Gainesville] (UF), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Equipe Biophysique Neurosensorielle [Neuro-Dol], Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Columbia University Medical Center (CUMC), Columbia University [New York], This work was supported by the Hearing Research Incorporation (O.A.), Fondation pour la Recherche Médicale (A.E.), Région Ile de France (DIM Thérapie génique), the European Union Seventh Framework Programme under the Grant Agreement HEALTH-F2-2010-242013 (TREAT RUSH), the French government funds managed by Agence Nationale de la Recherche (EargenCure), and LabEx Lifesenses (ANR-10-BNP Paribas Foundation, FAUN Stiftung, LHW Stiftung, and Mrs. Errera Hoechstetter)., ANR-17-CE18-0027,EARGENCURE,Restauration, par thérapie génique, de l'audition et de l'équilibre chez des souris modèles de surdités et troubles vestibulaires humains(2017), ANR-11-IDEX-0004,SUPER,Sorbonne Universités à Paris pour l'Enseignement et la Recherche(2011), European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), University of California [San Francisco] (UCSF), University of California, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire
المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩مصطلحات موضوعية: Medical Sciences, [SDV]Life Sciences [q-bio], Genetic enhancement, Genetic Vectors, Mutant, Mice, Transgenic, Biology, law.invention, Mice, otoferlin, 03 medical and health sciences, 0302 clinical medicine, law, deafness, Complementary DNA, otorhinolaryngologic diseases, DFNB9, Animals, Humans, Coding region, Vector (molecular biology), Gene, 030304 developmental biology, 0303 health sciences, Multidisciplinary, Membrane Proteins, Genetic Therapy, Biological Sciences, Dependovirus, gene therapy, Phenotype, Cell biology, Mice, Inbred C57BL, Disease Models, Animal, Recombinant DNA, dual AAV, 030217 neurology & neurosurgery
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المؤلفون: Elise Pepermans, Vincent Michel, Alain Aghaie, Jean-Pierre Hardelin, Amel Bahloul, Sylvie Nouaille, Isabelle Perfettini, Patrick England, Christine Petit, Jacques Boutet de Monvel, Florent Delhommel, Nicolas Wolff
المساهمون: Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Biophysique Moléculaire (plateforme) - Molecular Biophysics (platform), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Structural Biology (Neuherberg), Helmholtz-Zentrum München (HZM), Récepteurs Canaux - Channel Receptors, Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Stanford University, This work was supported by Institut Pasteur PTR program No.483, by Agence Nationale de la Recherche (ANR) within the framework of the Investissements d'Avenir program (ANR‐15‐RHUS‐0001), Laboratoire d'excellence (LabEx) Lifesenses (ANR‐10‐LABX‐65), ANR‐11‐IDEX‐0004‐02, ANR‐11‐BSV5‐0011, and grants from Fondation Agir pour l'Audition, the BNP Paribas Foundation, the FAUN Stiftung, the LHW‐Stiftung and Mrs. Errera Hoechstetter., ANR-15-RHUS-0001,LIGHT4DEAF,ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER(2015), ANR-11-IDEX-0004,SUPER,Sorbonne Universités à Paris pour l'Enseignement et la Recherche(2011), ANR-11-BSV5-0011,EARMEC,Propriétés mécaniques, actives et passives, de la touffe ciliaire des cellules mécano-sensorielles ciliées le long de l'axe tonotopique de la cochlée des mammifères.(2011), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Helmholtz Zentrum München = German Research Center for Environmental Health, Collège de France - Chaire Génétique et physiologie cellulaire, Gestionnaire, HAL Sorbonne Université 5, ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER - - LIGHT4DEAF2015 - ANR-15-RHUS-0001 - RHUS - VALID, Sorbonne Universités à Paris pour l'Enseignement et la Recherche - - SUPER2011 - ANR-11-IDEX-0004 - IDEX - VALID, BLANC - Propriétés mécaniques, actives et passives, de la touffe ciliaire des cellules mécano-sensorielles ciliées le long de l'axe tonotopique de la cochlée des mammifères. - - EARMEC2011 - ANR-11-BSV5-0011 - BLANC - VALID
المصدر: Scientific Reports
Scientific reports
Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.16430. ⟨10.1038/s41598-020-73158-1⟩
Scientific Reports, 2020, 10 (1), pp.16430. ⟨10.1038/s41598-020-73158-1⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)مصطلحات موضوعية: Scaffold protein, Male, Stereocilia (inner ear), PDZ domain, lcsh:Medicine, Cadherin Related Proteins, Diseases, [SDV.GEN] Life Sciences [q-bio]/Genetics, Mechanotransduction, Cellular, Biochemistry, Article, Stereocilia, 03 medical and health sciences, Mice, 0302 clinical medicine, CDH23, Hair Cells, Auditory, medicine, otorhinolaryngologic diseases, Animals, Protein Isoforms, Protein Precursors, Cytoskeleton, lcsh:Science, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Multidisciplinary, Chemistry, lcsh:R, Membrane Proteins, Cell Differentiation, Actin cytoskeleton, Cadherins, Cell biology, Cochlea, Mice, Inbred C57BL, medicine.anatomical_structure, Microscopy, Electron, Scanning, lcsh:Q, Female, Hair cell, sense organs, Engineering sciences. Technology, 030217 neurology & neurosurgery, PCDH15, Neuroscience
وصف الملف: application/pdf
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المؤلفون: Christine Petit, Florent Delhommel, Benjamin Bardiaux, Julia Chamot-Rooke, Michael Nilges, Sébastien Brier, Florence Cordier, Amel Bahloul, Bertrand Raynal, Sylvie Nouaille, Nicolas Wolff, Baptiste Colcombet-Cazenave, Guillaume Bouvier
المساهمون: ED 515 - Complexité du vivant, Université Pierre et Marie Curie - Paris 6 (UPMC), Résonance Magnétique Nucléaire des Biomolécules, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Bioinformatique structurale - Structural Bioinformatics, Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Spectrométrie de Masse structurale et protéomique, Biophysique Moléculaire (Plate-forme), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Bioinformatique Structurale, Financial support from TGIR-RMN-THC Fr3050 CNRS for conducting the research is gratefully acknowledged. We acknowledge SOLEIL and ESRF for provision of synchrotron radiation facilities, and we would like to thank the staff of the SWING and BM29 BioSAXS beamlines for assistance during the SAXS measurements. This work was supported by the Program Transversal de Recherche from the Institut Pasteur (PTR grant no. 483 to N.W.), the European Union (FP7-IDEAS-ERC 294809 to M.N.), the Ministère de l’Enseignement Supérieur et de la Recherche (grant no. 883/2013 to F.D), and the Comité Berthe Fouassier – Maladies de l’œil de la Fondation de France (no. 00071779 to F.D)., The authors are grateful to Bradley Worley for careful proofreading of the manuscript and to Muriel Delepierre for useful discussions. We thank Olivier Lequin, Patrick England, and Alain Chaffotte for their technical expertise., European Project: 294809,EC:FP7:ERC,ERC-2011-ADG_20110310,BAYCELLS(2012), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Collège de France - Chaire Génétique et physiologie cellulaire, Wolff, Nicolas, A Bayesian Framework for Cellular Structural Biology - BAYCELLS - - EC:FP7:ERC2012-05-01 - 2017-04-30 - 294809 - VALID
المصدر: Structure
Structure, Elsevier (Cell Press), 2017, 25 (11), pp.1645-1656.e5. ⟨10.1016/j.str.2017.08.013⟩
Structure, 2017, 25 (11), pp.1645-1656.e5. ⟨10.1016/j.str.2017.08.013⟩مصطلحات موضوعية: Protein Conformation, alpha-Helical, 0301 basic medicine, Scaffold protein, Protein Folding, MESH: Sequence Homology, Amino Acid, MESH: PDZ Domains, MESH: Nerve Tissue Proteins / genetics, Gene Expression, PDZ Domains, MESH: Amino Acid Sequence, MESH: Escherichia coli / genetics, 01 natural sciences, Mice, Transduction (genetics), Structural Biology, MESH: Hair Cells, Auditory / metabolism, MESH: Animals, MESH: Molecular Dynamics Simulation, MESH: Membrane Proteins / metabolism, Cloning, Molecular, MESH: Peptides / chemistry, MESH: Membrane Proteins / genetics, Tandem, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], SAXS, Recombinant Proteins, Thermodynamics, Stereocilia bundle, MESH: Protein Conformation, beta-Strand, MESH: Escherichia coli / metabolism, MESH: Thermodynamics, MESH: Hair Cells, Auditory / cytology, Usher syndrome, Protein Binding, MESH: Recombinant Proteins / chemistry, supramodule, MESH: Gene Expression, [SDV.BBM.BS] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], MESH: Protein Folding, Genetic Vectors, PDZ domain, MESH: Sequence Alignment, Nerve Tissue Proteins, MESH: Nerve Tissue Proteins / chemistry, Molecular Dynamics Simulation, Biology, 010402 general chemistry, Closed conformation, MESH: Membrane Proteins / chemistry, Electric signal, 03 medical and health sciences, NMR spectroscopy, Hair Cells, Auditory, Escherichia coli, otorhinolaryngologic diseases, Animals, MESH: Protein Binding, MESH: Cloning, Molecular, Amino Acid Sequence, MESH: Genetic Vectors / chemistry, Molecular Biology, MESH: Mice, MESH: Nerve Tissue Proteins / metabolism, MESH: Protein Conformation, alpha-Helical, MESH: Peptides / chemical synthesis, Binding Sites, whirlin, Sequence Homology, Amino Acid, Stereocilia, Membrane Proteins, 0104 chemical sciences, Crystallography, 030104 developmental biology, MESH: Genetic Vectors / metabolism, MESH: Binding Sites, Biophysics, Protein Conformation, beta-Strand, sense organs, MESH: Recombinant Proteins / metabolism, Peptides, Sequence Alignment, MESH: Recombinant Proteins / genetics
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المؤلفون: Alexandre Parrin, Amel Bahloul, Sylvie Nouaille, Christine Petit, Sarah M. Auclair, Martin Sachse, Nicolas Michalski, Juan D Goutman, Marc Guillon, Didier Dulon, Margot Tertrais, Saaid Safieddine, Danica Ciric, Paul Avan, Roger Bryan Sutton, Jacques Boutet de Monvel, Jean-Pierre Hardelin, Shyam S. Krishnakumar, James E. Rothman, Alice Emptoz
مصطلحات موضوعية: Auditory Hair Cell, Vesicle fusion, Chemistry, Vesicle, Ribbon synapse, Cell biology
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المؤلفون: 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
المساهمون: Génétique et Physiologie de l'Audition, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), ED 515 - Complexité du vivant, Université Pierre et Marie Curie - Paris 6 (UPMC), University of California [San Francisco] (UC San Francisco), University of California (UC), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Centre de neurophysique, physiologie, pathologie (UMR 8119), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Neurophysiologie de la Synapse Auditive, Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU de Bordeaux Pellegrin [Bordeaux]-Neuroscience Institute, Columbia University [New York], Equipe Biophysique Neurosensorielle [Neuro-Dol], Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by Fondation pour la Recherche Médicale (A.E.), the European UnionSeventh Framework Programme under the grant agreement HEALTH-F2-2010-242013 (TREATRUSH), the European Commission (ERC-2011-ADG_294570), French state funds managed by Agence Nationale de la Recherche within theInvestissements d’Avenir Programme (ANR-15-RHUS-0001), LabEx Lifesenses(ANR-10-LABX-65), and grants from the BNP Paribas Foundation, the FAUN-Stiftung, the LHW-Stiftung, and Errera Hoechstetter., ANR-15-RHUS-0001,LIGHT4DEAF,ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER(2015), ANR-11-IDEX-0004,SUPER,Sorbonne Universités à Paris pour l'Enseignement et la Recherche(2011), European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), European Project: 294570,EC:FP7:ERC,ERC-2011-ADG_20110310,HAIRBUNDLE(2012), CHAUVET, Laurence, ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER - - LIGHT4DEAF2015 - ANR-15-RHUS-0001 - RHUS - VALID, Sorbonne Universités à Paris pour l'Enseignement et la Recherche - - SUPER2011 - ANR-11-IDEX-0004 - IDEX - VALID, Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher) - TREATRUSH - - EC:FP7:HEALTH2010-02-01 - 2014-01-31 - 242013 - VALID, Assembling the puzzle of the operating auditory hair bundle - HAIRBUNDLE - - EC:FP7:ERC2012-12-01 - 2017-11-30 - 294570 - VALID, Chaire Génétique et physiologie cellulaire, University of California [San Francisco] (UCSF), University of California, Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)
المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (36), pp.9695-9700. ⟨10.1073/pnas.1708894114⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2017, 114 (36), pp.9695-9700. ⟨10.1073/pnas.1708894114⟩مصطلحات موضوعية: DNA, Complementary, [SDV]Life Sciences [q-bio], Genetic Vectors, Nerve Tissue Proteins, Mice, Hair Cells, Auditory, Evoked Potentials, Auditory, Brain Stem, otorhinolaryngologic diseases, Animals, Humans, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, gene, mouse, Mice, Knockout, therapy, balance, Genetic Therapy, Dependovirus, Biological Sciences, [SDV] Life Sciences [q-bio], Disease Models, Animal, Animals, Newborn, [SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Microscopy, Electron, Scanning, Vestibule, Labyrinth, sense organs, Usher Syndromes, Usher
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المؤلفون: Sylviane Hoos, Jean-Pierre Hardelin, Christine Petit, Vincent Michel, Patrick England, Anne Houdusse, Amel Bahloul, Sylvie Nouaille
المساهمون: Génétique et Physiologie de l'Audition, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biophysique des Macromolécules et de leurs Interactions, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut Curie [Paris], Institut Pasteur [Paris] (IP), Collège de France (CdF (institution)), This work was supported by LHW-Stiftung, Fondation Orange, Conny Maeva Foundation, ANR-05-MRAR-015-01, Raymonde and Guy Strittmatter Foundation (under the aegis of Fondation de France), FAUN Stiftung (Suchert Foundation). Funding to pay the Open Access Charge was provided by Unite de Genetique et Physiologie de l'Audition, Institut Pasteur, France., The authors thank Muriel Delepierre for NMR spectra, Raphaël Etournay and Alexandre Chenal for their advice in the preparation of LUV, Beatrice Amigues for myosin VIIa tail preparation, Bruno Baron for circular dichroism experiments, Jacqueline Levilliers for her help in the manuscript preparation and the staff of Dynamic Imaging platform of the Pasteur Institute., ANR-05-MRAR-0015,Usher type I,Physiopathologie du syndrome de Usher de type I : de la structure de la myosine VIIa et de l'harmonine à leur fonction dans les cellules ciliées auditives(2005), ENGLAND, Patrick, Programme pluriannuel de recherche sur les maladies rares - Physiopathologie du syndrome de Usher de type I : de la structure de la myosine VIIa et de l'harmonine à leur fonction dans les cellules ciliées auditives - - Usher type I2005 - ANR-05-MRAR-0015 - MRAR - VALID
المصدر: Human Molecular Genetics
Human Molecular Genetics, 2010, 19 (18), pp.3557-3565. ⟨10.1093/hmg/ddq271⟩مصطلحات موضوعية: Male, MESH: Cytoskeletal Proteins, [SDV]Life Sciences [q-bio], Cell Cycle Proteins, Plasma protein binding, MESH: Mice, Knockout, MESH: Cadherins, Mice, MESH: Protein Structure, Tertiary, Myosin, MESH: Hair Cells, Auditory, MESH: Animals, Ternary complex, Phospholipids, Genetics (clinical), Mice, Knockout, MESH: Protein Multimerization, Articles, General Medicine, Cadherins, [SDV] Life Sciences [q-bio], Biochemistry, Myosin VIIa, Female, Usher Syndromes, Protein Binding, Gene isoform, PDZ domain, MESH: Carrier Proteins, macromolecular substances, Myosins, Biology, Cell Line, MESH: Cell Cycle Proteins, Hair Cells, Auditory, otorhinolaryngologic diseases, Genetics, Molecular motor, Animals, Humans, MESH: Myosin VIIa, MESH: Protein Binding, MESH: Usher Syndromes, MESH: Mice, Molecular Biology, MESH: Phospholipids, MESH: Humans, Cadherin, MESH: Myosins, MESH: Male, Protein Structure, Tertiary, MESH: Cell Line, Cytoskeletal Proteins, Disease Models, Animal, Cytoplasm, Biophysics, sense organs, Protein Multimerization, MESH: Disease Models, Animal, Carrier Proteins, MESH: Female
وصف الملف: application/pdf
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المؤلفون: Sylvie Nouaille, Walter E. Nance, Elisabeth Verpy, Guy P. Richardson, Mirna Mustapha, Karen B. Avraham, Xue Zhong Liu, Jacques Loiselet, Marc Lathrop, Richard J. Goodyear, Michel Leibovici, Fredj Tekaia, Moien Kanaan, Ingrid Zwaenepoel, Christine Petit
المصدر: Proceedings of the National Academy of Sciences. 99:6240-6245
مصطلحات موضوعية: Male, DNA, Complementary, Genotype, Genetic Linkage, Tectorial membrane, Spiral limbus, DNA Mutational Analysis, Molecular Sequence Data, Biology, GPI-Linked Proteins, Epithelium, Mice, Exon, Complementary DNA, otorhinolaryngologic diseases, medicine, Animals, Humans, Tissue Distribution, Inner ear, Amino Acid Sequence, Cloning, Molecular, Hearing Disorders, Peptide sequence, Cochlea, Multidisciplinary, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Membrane Proteins, Exons, Anatomy, Biological Sciences, Pedigree, Cell biology, Microscopy, Electron, medicine.anatomical_structure, Microscopy, Fluorescence, Ear, Inner, Mesothelin, Vestibule, Mutation, Female, sense organs
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المؤلفون: Jean-Pierre Hardelin, Aziz El-Amraoui, Christine Petit, Sylvie Nouaille, Polonca Küssel-Andermann, Jacques Camonis, Saaid Safieddine
المساهمون: Génétique des Déficits sensoriels, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut Curie [Paris], Génétique et expression des oncogènes, Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Journal of Biological Chemistry
Journal of Biological Chemistry, 2000, 275 (38), pp.29654-29659. ⟨10.1074/jbc.M004393200⟩مصطلحات موضوعية: A-kinase-anchoring protein, Myosin light-chain kinase, [SDV]Life Sciences [q-bio], Moesin, Protein subunit, macromolecular substances, Myosins, Biology, Biochemistry, Substrate Specificity, Mice, Ezrin, Radixin, Myosin, Escherichia coli, otorhinolaryngologic diseases, Animals, Humans, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Protein kinase A, Molecular Biology, Binding Sites, Dyneins, Cell Biology, Cyclic AMP-Dependent Protein Kinases, eye diseases, Cell biology, Myosin VIIa, sense organs, Protein Binding
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المؤلفون: Delphine Torchard-Pagnez, Mirna Mustapha, Eliane Chouery, Awni Khrais, Dominique Weil, Christine Petit, Jacques Loiselet, Sylvie Nouaille, Fouad N. Sayegh, Mark Lathrop, André Mégarbané
المصدر: Human Genetics. 110:348-350
مصطلحات موضوعية: Adult, Male, Genetic Linkage, Hearing loss, Hearing Loss, Sensorineural, Usher syndrome, Locus (genetics), Biology, Gene mapping, Genetic linkage, Retinitis pigmentosa, otorhinolaryngologic diseases, Genetics, medicine, Humans, Allele, Genetics (clinical), Genetic heterogeneity, Chromosome Mapping, Syndrome, medicine.disease, Pedigree, Female, medicine.symptom, Retinitis Pigmentosa, Chromosomes, Human, Pair 17
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12Academic Journal
المؤلفون: Isabelle Roux, Suzanne Hosie, Stuart L Johnson, Amel Bahloul, Nadège Cayet, Sylvie Nouaille, Corne Kros, Christine Petit, Saaid Safieddine
مصطلحات موضوعية: Uncategorised value
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المؤلفون: Saaid Safieddine, Stuart L. Johnson, Corné J. Kros, Christine Petit, Suzanne Hosie, Isabelle Roux, Amel Bahloul, Sylvie Nouaille, Nadège Cayet
المساهمون: Génétique et Physiologie de l'Audition, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Sussex, Microscopie électronique (Plate-forme), Institut Pasteur [Paris] (IP), This work was supported by grants from EMBO ALTF 952–2006 to I.R., the French Ministry of Research and the European Commission FP6 Integrated Project EuroHear LSHG-CT-2004–512063 to C.P., Human Frontiers Science Program and the Agence Nationale de la Recherche (ANR-07-Neuro-036–01) to S.S. and a BBSRC Case studentship sponsored by Pfizer to S.H. and C.J.K., ANR-07-NEUR-0036,Octosynapse,Anatmie moléculaire et caractérisation physiologique de la synapse à ruban des cellules sensorielles auditives(2007)
المصدر: Human Molecular Genetics
Human Molecular Genetics, 2009, 18 (23), pp.4615-4628. ⟨10.1093/hmg/ddp429⟩مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Ribbon synapse, Biology, Deafness, Synaptic vesicle, Exocytosis, Cell Line, Synapse, Mice, Myosin, Genetics, medicine, Animals, Humans, Active zone, Molecular Biology, Genetics (clinical), Mice, Knockout, Hair Cells, Auditory, Inner, Myosin Heavy Chains, General Medicine, Anatomy, Endocytosis, Cell biology, Electrophysiological Phenomena, Mice, Inbred C57BL, Disease Models, Animal, medicine.anatomical_structure, Synapses, Calcium, Female, sense organs, Hair cell, Presynaptic active zone
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14
المؤلفون: Dominique Weil, Paolo Gasparini, Isabelle Perfettini, Jean-Pierre Hardelin, Christine Petit, Vincent Michel, Paul Avan, Amel Bahloul, Sylvie Nouaille, Michel Leibovici, Danilo Licastro, Jian Zuo, Cristina Zadro, Isabelle Roux, Marie-Christine Simmler
المساهمون: Bahloul, A, Simmler, Mc, Michel, V, Leibovici, M, Perfettini, I, Roux, I, Weil, D, Nouaille, S, Zuo, J, Zadro, C, Licastro, D, Gasparini, Paolo, Avan, P, Hardelin, Jp, Petit, C., Génétique des Déficits Sensoriels, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Département de neurobiologie du développement, recherche de l'Hôpital St. Jude Children's, St Jude Children's Research Hospital, Unité de génétique médicale, Département des sciences de la reproduction et le développement, IRCCS de l'Université de Trieste, Università degli studi di Trieste = University of Trieste, Department of Physics, RISSC-Lab-University of Naples Federico II = Università degli studi di Napoli Federico II, Equipe Biophysique Neurosensorielle [Neuro-Dol], Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Région Ile-de-France du projet, Grant Numéro: Sésame 2002-E1666 Pasteur-Weizmann Programme commun de recherche (2006-2007), ANR-05-MRAR-0015,Usher type I,Physiopathologie du syndrome de Usher de type I : de la structure de la myosine VIIa et de l'harmonine à leur fonction dans les cellules ciliées auditives(2005), European Project, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique et Physiologie de l'Audition, Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris]-Collège de France (CdF)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université de Trieste, Università degli studi di Napoli Federico II-RISSC-Lab, Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Neuro-Dol - Clermont Auvergne (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Collège de France (CDF), Collège de France (CdF), Agence française de recherche national (ANR-Maladies Rares), Nombre de subventions: ANR-05-MRAR-015-01 - Agence française de recherche national (ANR-Maladies Neurologiques et Psychiatriques),Agence française de recherche national (ANR-Maladies Rares), Nombre de subventions: ANR-05-MRAR-015-01 - Agence française de recherche national (ANR-Maladies Neurologiques et Psychiatriques), Chaire Génétique et physiologie cellulaire
المصدر: EMBO Molecular Medicine
EMBO Molecular Medicine, 2009, 1 (2), pp.125-38. ⟨10.1002/emmm.200900015⟩
EMBO Molecular Medicine, Wiley Open Access, 2009, 1 (2), pp.125-38. ⟨10.1002/emmm.200900015⟩مصطلحات موضوعية: mouse model, Deafness, Biology, Polymorphism, Single Nucleotide, adherens junction, Adherens junction, Mice, 03 medical and health sciences, 0302 clinical medicine, Stress, Physiological, Radixin, medicine, otorhinolaryngologic diseases, Animals, Inner ear, Research Articles, Cochlea, 030304 developmental biology, 0303 health sciences, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Anatomy, medicine.disease, Cell biology, noise-induced hearing loss, Intercellular Junctions, medicine.anatomical_structure, Hearing Loss, Noise-Induced, Membrane protein, Organ of Corti, vezatin, Molecular Medicine, Hair cell, organ of Corti, Noise, Gene Deletion, 030217 neurology & neurosurgery, Noise-induced hearing loss
وصف الملف: STAMPA
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15Academic Journal
المؤلفون: Ingrid Zwaenepoel, Mirna Mustapha, Michel Leibovici, Elisabeth Verpy, Richard Goodyear, Xue Zhong Liu, Sylvie Nouaille, Walter E Nance, Moien Kanaan, Karen B Avraham, Fredj Tekaia, Jacques Loiselet, Marc Lathrop, Guy Richardson, Christine Petit
مصطلحات موضوعية: Uncategorised value
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16
المؤلفون: Hutchin Tp, Saber Masmoudi, Sophie Lainé, Felipe Moreno, Stéphane Blanchard, del Castillo I, Michel Leibovici, Ingrid Zwaenepoel, Popot Jl, Elisabeth Verpy, Christine Petit, Robert F. Mueller, Sylvie Nouaille
المصدر: Nature genetics. 29(3)
مصطلحات موضوعية: Genetic Markers, Male, Hearing Loss, Sensorineural, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Biology, Frameshift mutation, Exon, Consanguinity, Mice, Hair Cells, Auditory, otorhinolaryngologic diseases, Genetics, Coding region, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Gene, Peptide sequence, Chromosomes, Human, Pair 15, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Chromosome Mapping, Membrane Proteins, Proteins, Exons, Stop codon, Microscopy, Fluorescence, Tandem Repeat Sequences, Child, Preschool, Mutation, Intercellular Signaling Peptides and Proteins, STRC
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17
المؤلفون: Uwe Wolfrum, Aziz El-Amraoui, Marc Lecuit, Christine Petit, Saaid Safieddine, Isabelle Perfettini, Polonca Küssel-Andermann, Pascale Cossart, Sylvie Nouaille
المساهمون: Génétique des Déficits sensoriels, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Interactions Bactéries-Cellules, Institut Pasteur [Paris], Johannes Gutenberg - Universität Mainz (JGU), This work was supported by grants from the EC (QLG2-CT-1999-00988), Retina-France, A. & M. Suchert and Forschung contra Blindheit-Initiative Usher Syndrome, a C. & J.-P. Bernais donation, Deutsche Forschungsgemeinschaft (Wo 548/3-1/2 and Wo 548/4-1) (U.W.), FAUN-Stiftung, Nürnberg (U.W.) and the Pasteur Weizmann Joint Research Program (P.C.)., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Johannes Gutenberg - Universität Mainz = Johannes Gutenberg University (JGU)
المصدر: Scopus-Elsevier
EMBO Journal
EMBO Journal, EMBO Press, 2000, 19 (22), pp.6020-6029. ⟨10.1093/emboj/19.22.6020⟩
EMBO Journal, 2000, 19 (22), pp.6020-6029. ⟨10.1093/emboj/19.22.6020⟩مصطلحات موضوعية: MESH: Cytoskeletal Proteins, MESH: alpha Catenin, Stereocilia (inner ear), [SDV]Life Sciences [q-bio], MESH: Amino Acid Sequence, Deafness, MESH: Cadherins, Mice, MESH: Protein Structure, Tertiary, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Myosin, MESH: Hair Cells, Auditory, MESH: Animals, Cytoskeleton, 0303 health sciences, FERM domain, General Neuroscience, MESH: Alternative Splicing, Articles, Cadherins, Cell biology, medicine.anatomical_structure, Intercellular Junctions, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Myosin VIIa, Hair cell, MESH: Membrane Proteins, MESH: Dyneins, Protein Binding, MESH: Mutation, Macromolecular Substances, Molecular Sequence Data, MESH: Deafness, macromolecular substances, Biology, In Vitro Techniques, Myosins, General Biochemistry, Genetics and Molecular Biology, Cell Line, Adherens junction, 03 medical and health sciences, Hair Cells, Auditory, medicine, otorhinolaryngologic diseases, Animals, Humans, MESH: Myosin VIIa, MESH: Protein Binding, Amino Acid Sequence, Molecular Biology, MESH: Mice, 030304 developmental biology, MESH: In Vitro Techniques, MESH: Molecular Sequence Data, MESH: Humans, General Immunology and Microbiology, Cadherin, Dyneins, Membrane Proteins, MESH: Macromolecular Substances, MESH: Myosins, Actin cytoskeleton, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, Protein Structure, Tertiary, MESH: Cell Line, Alternative Splicing, Cytoskeletal Proteins, Mutation, sense organs, 030217 neurology & neurosurgery, alpha Catenin, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, MESH: Intercellular Junctions
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18Academic Journal
المؤلفون: Dulon, Didier, Boutet de Monvel, Jacques, Plion, Baptiste, Mallet, Adeline, Condamine, Steven, Bouleau, Yohan, Safieddine, Saaid
المساهمون: Institut de l'Audition Paris (IDA), Institut Pasteur Paris (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université de Bordeaux Ségalen Bordeaux 2, Centre National de la Recherche Scientifique (CNRS), This work was supported by the French National Research Agency which is funding the future investment program entitled RHU AUDINNOVE, ANR-18-RHUS-0007 to SS”, programme EARGENCURE (ANR-17-CE18-0027 to SS). This work was in large part financed by the Fondation pour l’Audition (FPA grant number: n° FPA IDA09 to DD and FPA IDA08 to SS)., We would like to thank Anna Sartori-Rupp of the “Plate-Forme de Microscopie ultrastructurale of the Pasteur Institute. Part of the confocal fluorescence microscopy was done in the Bordeaux Imaging Center, a service unit of the CNRS-INSERM and Bordeaux University, member of the national infrastructure France BioImaging. We are also grateful for their help in some experiments of the study to Sylvie Nouaille, Philippe Vincent, Margot Tertrais and Thibault Peineau., ANR-18-RHUS-0007,AUDINNOVE,Treating congenital hearing impairment(2018), ANR-17-CE18-0027,EARGENCURE,Restauration, par thérapie génique, de l'audition et de l'équilibre chez des souris modèles de surdités et troubles vestibulaires humains(2017)
المصدر: ISSN: 0301-0082 ; Progress in Neurobiology ; https://hal.science/hal-04665798 ; Progress in Neurobiology, 2024, 240, pp.102658. ⟨10.1016/j.pneurobio.2024.102658⟩.
مصطلحات موضوعية: deafness, auditory hair cells, synaptic transmission, exocytosis, FRAP, EGFP, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/39103114; hal-04665798; https://hal.science/hal-04665798; https://hal.science/hal-04665798/document; https://hal.science/hal-04665798/file/1-s2.0-S0301008224000947-main.pdf; PUBMED: 39103114
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19Academic Journal
المؤلفون: Dulon, Didier, Boutet de Monvel, Jacques, Plion, Baptiste, Mallet, Adeline, Condamine, Steven, Bouleau, Yohan, Safieddine, Saaid
المساهمون: Institut de l'Audition Paris (IDA), Institut Pasteur Paris (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université de Bordeaux Ségalen Bordeaux 2, Centre National de la Recherche Scientifique (CNRS), This work was supported by the French National Research Agency which is funding the future investment program entitled RHU AUDINNOVE, ANR-18-RHUS-0007 to SS”, programme EARGENCURE (ANR-17-CE18-0027 to SS). This work was in large part financed by the Fondation pour l’Audition (FPA grant number: n° FPA IDA09 to DD and FPA IDA08 to SS)., We would like to thank Anna Sartori-Rupp of the “Plate-Forme de Microscopie ultrastructurale of the Pasteur Institute. Part of the confocal fluorescence microscopy was done in the Bordeaux Imaging Center, a service unit of the CNRS-INSERM and Bordeaux University, member of the national infrastructure France BioImaging. We are also grateful for their help in some experiments of the study to Sylvie Nouaille, Philippe Vincent, Margot Tertrais and Thibault Peineau., ANR-18-RHUS-0007,AUDINNOVE,Treating congenital hearing impairment(2018), ANR-17-CE18-0027,EARGENCURE,Restauration, par thérapie génique, de l'audition et de l'équilibre chez des souris modèles de surdités et troubles vestibulaires humains(2017)
المصدر: ISSN: 0301-0082 ; Progress in Neurobiology ; https://hal.science/hal-04665798 ; Progress in Neurobiology, 2024, ⟨10.1101/2024.03.20.585901⟩.
مصطلحات موضوعية: eafness, auditory hair cells, synaptic transmission, exocytosis, FRAP, EGFP, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/39103114; hal-04665798; https://hal.science/hal-04665798; BIORXIV: 2024.03.20.585901; PUBMED: 39103114