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

Relation: http://www.sciencedirect.com/science/article/pii/S2589004222019009; https://doaj.org/toc/2589-0042

URL الوصول: https://doaj.org/article/b93b8ca16eb54c7397c900ea371497c5

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

Relation: https://elifesciences.org/articles/31013; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/0573827227564a46bbf876f5400e53e1

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a59eb91d9ac9543df3524f03209acd9
https://doi.org/10.1073/pnas.1817537116

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626c14b4c655352f8fbe35c76e5be781
https://pubmed.ncbi.nlm.nih.gov/33009420

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf6c0f0829c16de0cf89456ba92ad039
https://hal-pasteur.archives-ouvertes.fr/pasteur-02883914

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::25fd65427218bb68931c2a144190050f
https://doi.org/10.7554/elife.31013.024

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

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::de91960ac6c0a3018d14421e98a3a695
https://hal.science/hal-01661148

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3111cc150a4f1b8133c250bb4beb5c04
https://doi.org/10.1093/hmg/ddq271

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4e5e2b9cfe80cbc7ca0dcddd1a5aa3
https://doi.org/10.1073/pnas.082515999

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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https://doi.org/10.1074/jbc.m004393200