المؤلفون: Christian Renard, Christine Petit, Yosra Bouyacoub, Sedigheh Delmaghani, Magali Niasme-Grare, Nicolas Michalski, Hung Thai-Van, Olivier Deguine, Anne Aubois, Arnaud Deveze, Jean-Pierre Lavieille, Valérie Franco-Vidal, Anne-Laure Roudevitch-Pujol, Amrit Singh-Estivalet, Arnaud Coez, Vincent Michel, Christophe Vincent, Hugues Aschard, Claire Thibult-Apt, Amel Bahloul, Sophie Boucher, E. Ionescu, Bernard Fraysse, Fabienne Wong Jun Tai, Fabrice Giraudet, Vincent Darrouzet, Typhaine Dupont, Nicolas Wolff, Didier Bouccara, Lionel Collet, Crystel Bonnet, Gaelle M. Lefèvre, Jean-Louis Kemeny, Andrea Lelli, Eric Bizaguet, Paul Avan

المساهمون: Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), ED 515 - Complexité du vivant, Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Université d'Angers (UA), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Récepteurs Canaux - Channel Receptors, Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Toulouse [Toulouse], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Hôpital Edouard Herriot [CHU - HCL], Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Université Clermont Auvergne (UCA), Hôpital Nord [CHU - APHM], Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Hôpital Roger Salengro [Lille], Laboratoire d’Audiologie Renard, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Laboratoire de correction auditive Eric Bizaguet, CEA- Saclay (CEA), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre de Bioinformatique, Biostatistique et Biologie Intégrative (C3BI), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by a grant from Fondation pour l’Audition (to C.P.), LabEx Lifesenses Grant ANR-10-LABX-65, and Light4deaf Grant ANR-15-RHUS-0001., We thank the patients for participating in this study and Céline Trébeau for technical assistance. S.B. received funding from the University of Angers (Medical School), the University Hospital of Angers, and the Collège Français d’oto-rhino-laryngologistes., ANR-10-LABX-0065,LIFESENSES,DES SENS POUR TOUTE LA VIE(2010), ANR-15-RHUS-0001,LIGHT4DEAF,ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER(2015), 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), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Collège de France - Chaire Génétique et physiologie cellulaire, Bonnet, Crystel, DES SENS POUR TOUTE LA VIE - - LIFESENSES2010 - ANR-10-LABX-0065 - LABX - VALID, ECLAIRER LA SURDITÉ : UNE APPROCHE HOLISTIQUE DU SYNDROME D'USHER - - LIGHT4DEAF2015 - ANR-15-RHUS-0001 - RHUS - VALID

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, National Academy of Sciences, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Proc Natl Acad Sci U S A

مصطلحات موضوعية: 0301 basic medicine, Presbycusis, [SDV.GEN] Life Sciences [q-bio]/Genetics, Deafness, Cohort Studies, Mice, 0302 clinical medicine, MESH: Presbycusis, MESH: Animals, Age of Onset, MESH: Cohort Studies, Genes, Dominant, Early onset, MESH: Heterozygote, Genetics, Multidisciplinary, monogenic disorder, Age Factors, Biological Sciences, Phenotype, MESH: Case-Control Studies, Mitochondria, 3. Good health, age-related hearing loss, symbols, MESH: Membrane Proteins, medicine.symptom, Heterozygote, MESH: Mutation, Hearing loss, MESH: Mitochondria, MESH: Age of Onset, MESH: Deafness, Biology, 03 medical and health sciences, symbols.namesake, MESH: Whole Exome Sequencing, Exome Sequencing, medicine, Animals, Humans, Allele frequency, Gene, ultrarare variants, MESH: Mice, MESH: Age Factors, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Membrane Proteins, Tmc1, medicine.disease, Comorbidity, MicroRNAs, 030104 developmental biology, Case-Control Studies, Mutation, Mendelian inheritance, MESH: Genes, Dominant, presbycusis, MESH: MicroRNAs, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26bb30ca4931ea88956d1a4bd7843bdbTest
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215054Test

المؤلفون: Sahar Elouej, Cherine Charfeddine, Aziz El-Amraoui, Ghaith Abdessalem, Zied Landoulsi, Kais Ghedira, Nicolas Lévy, Arnaud Lagarde, Valérie Delague, Mohamed Samir Boubaker, Yosr Hamdi, Hamza Dallali, Sonia Abdelhak, Mourad Mokni

المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Institut Supérieur de Biotechnologie de Sidi Thabet (ISBST), Université de la Manouba [Tunisie] (UMA), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), University of Luxembourg [Luxembourg], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpital La Rabta [Tunis], This work was supported by the Tunisian Ministry of Public Health, the Ministry of Higher Education and Scientific Research (LR16IPT05), and RARE-MED project (A*MIDEX Initiative d’excellence)., Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2020, 65 (4), pp.397-410. ⟨10.1038/s10038-019-0711-4⟩
Journal of Human Genetics, 2020, 65 (4), pp.397-410. ⟨10.1038/s10038-019-0711-4⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Nonsynonymous substitution, [SDV]Life Sciences [q-bio], Chromosome Disorders, 030105 genetics & heredity, medicine.disease_cause, MESH: Cadherins, Missense mutation, Erythrokeratodermia Variabilis, Genetics (clinical), Exome sequencing, Genes, Dominant, Skin, Genetics, MESH: Aged, Mutation, MESH: Chromosome Disorders, MESH: Erythrokeratodermia Variabilis, Cadherins, 3. Good health, Protein destabilization, MESH: Protein Domains, Female, Adult, dbSNP, Mutation, Missense, Cadherin Related Proteins, Biology, 03 medical and health sciences, Protein Domains, MESH: Skin, MESH: Whole Exome Sequencing, MESH: Computer Simulation, Exome Sequencing, medicine, Humans, Computer Simulation, Gene, Aged, MESH: Mutation, Missense, MESH: Humans, MESH: Adult, medicine.disease, MESH: Male, 030104 developmental biology, Palmoplantar keratoderma, MESH: Genes, Dominant, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76913ef26ab82c67696fb27d104e4f30Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-03261809Test

المؤلفون: Jean-Pierre Desvignes, Hélène Guizouarn, David Salgado, Corinne Guitton, Henri Vinti, Christophe Béroud, Véronique Picard, Vanessa Nivaggioni, Marie Loosveld, Caroline Lacoste, Valérie Lacroze, Raphael Rapetti-Mauss, Patrick Viout, Madeleine Fénéant-Thibault, Catherine Badens, Isabelle Thuret, Elise Lombard, Nathalie Dasilva, Olivier Soriani, Monique Bernard

المساهمون: Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA), Service d'Hématologie biologique [AP-HP Hôpital Bicêtre], Université Paris Sud-Paris Saclay-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service d'hématologie, immunologie biologiques et cytogénétique, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, Nutrition, obésité et risque thrombotique (NORT), Institut National de la Recherche Agronomique (INRA)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Institute of Developmental Biology and Cancer (IBDC), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie [CHU Bicêtre], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service d'Hématologie pédiatrique, Hôpital de la Timone, Marseille, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION ), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION)

المصدر: Blood
Blood, American Society of Hematology, 2015, 126 (11), pp.1273-80
Blood, American Society of Hematology, 2015, 126 (11), pp.1273-1280. ⟨10.1182/blood-2015-04-642496⟩

مصطلحات موضوعية: MESH: Sequence Homology, Amino Acid, [SDV]Life Sciences [q-bio], Xenopus, MESH: Amino Acid Sequence, medicine.disease_cause, Biochemistry, MESH: Recombinant Proteins, MESH: Mutant Proteins, MESH: Pregnancy, Missense mutation, MESH: Animals, [SDV.BDD]Life Sciences [q-bio]/Development Biology, ComputingMilieux_MISCELLANEOUS, Genetics, Mutation, education.field_of_study, MESH: Infant, Newborn, Hematology, MESH: Infant, MESH: Osmotic Fragility, Hemolysis, 3. Good health, MESH: HEK293 Cells, MESH: Models, Molecular, Calmodulin, MESH: Pedigree, MESH: Hydrops Fetalis, Immunology, MESH: Intermediate-Conductance Calcium-Activated Potassium Channels, Biology, MESH: Oocytes, KCNN4, MESH: Xenopus laevis, MESH: Anemia, Hemolytic, Congenital, MESH: Patch-Clamp Techniques, medicine, education, MESH: In Vitro Techniques, MESH: Mutation, Missense, MESH: Erythrocytes, Abnormal, MESH: Molecular Sequence Data, MESH: Humans, Elliptocytes, HEK 293 cells, MESH: Child, Preschool, MESH: Adult, Cell Biology, biology.organism_classification, medicine.disease, Molecular biology, MESH: Male, biology.protein, MESH: Genes, Dominant, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78049c363a77dc39b3c75091d2c232c1Test
https://hal.archives-ouvertes.fr/hal-01252935Test

المؤلفون: Franck Sturtz, Jean-Michel Vallat, Robert A. Ouvrier, Corinne Magdelaine, Danqing Zhu, S. Grew, Monique M. Ryan, Garth A. Nicholson

المساهمون: Service de Biochimie et Génétique Moléculaire [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Service de Neurologie [CHU Limoges]

المصدر: Neurology
Neurology, American Academy of Neurology, 2008, 70 (19), pp.1678-81. ⟨10.1212/01.wnl.0000311275.89032.22⟩

مصطلحات موضوعية: Male, Pathology, Wallerian degeneration, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, DNA Mutational Analysis, Inheritance Patterns, MESH: Genetic Markers, Compound heterozygosity, medicine.disease_cause, GTP Phosphohydrolases, MESH: Genotype, 0302 clinical medicine, Genotype, MESH: DNA Mutational Analysis, Age of Onset, MESH: Heterozygote, Genes, Dominant, Genetics, 0303 health sciences, Mutation, MESH: Genetic Testing, Homozygote, MESH: Genetic Predisposition to Disease, MESH: Mitochondrial Proteins, Peripheral Nervous System Diseases, Phenotype, 3. Good health, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, MESH: Membrane Proteins, MESH: Peripheral Nervous System Diseases, MESH: Homozygote, Adult, Genetic Markers, MESH: Axons, Heterozygote, medicine.medical_specialty, MESH: Mutation, MESH: Age of Onset, Hearing Loss, Sensorineural, Biology, Mitochondrial Proteins, 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Genetic Predisposition to Disease, Genetic Testing, Peripheral Nerves, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Membrane Proteins, MESH: Adult, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Heterozygote advantage, MESH: Peripheral Nerves, medicine.disease, MESH: Male, Axons, Peripheral neuropathy, MESH: Hearing Loss, Sensorineural, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, nervous system, Neurology (clinical), MESH: Inheritance Patterns, Age of onset, MESH: Wallerian Degeneration, MESH: Genes, Dominant, Wallerian Degeneration, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dfecb62c3f66e961dda6accac29d5f0Test
https://doi.org/10.1212/01.wnl.0000311275.89032.22Test

المؤلفون: Emmanuel Fournier, Serge Gallet, Marie-Madeleine Larroque, Saïd Bendahhou, Jacques Barhanin, Dominique Ménard

المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Pediatrics, Hôpital de Montluçon, Neurology Department, Hôpital de Rennes, CNRS, AFM, Résocanaux

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2007, 16 (8), pp.900-6. ⟨10.1093/hmg/ddm034⟩

مصطلحات موضوعية: Male, Models, Molecular, Proband, MESH: Sequence Homology, Amino Acid, MESH: Amino Acid Sequence, Dominant-Negative Mutation, medicine.disease_cause, MESH: Andersen Syndrome, 0302 clinical medicine, Adrenal Cortex Hormones, Chlorocebus aethiops, MESH: Animals, Tissue Distribution, Glycogen storage disease type IV, Genetics (clinical), Genes, Dominant, Andersen Syndrome, 0303 health sciences, Mutation, Inward-rectifier potassium ion channel, [SDV.BA]Life Sciences [q-bio]/Animal biology, MESH: Potassium Channels, Inwardly Rectifying, Periodic paralysis, General Medicine, Pedigree, 3. Good health, MESH: COS Cells, Phenotype, COS Cells, Female, MESH: Models, Molecular, Adult, medicine.medical_specialty, MESH: Mutation, MESH: Pedigree, Molecular Sequence Data, Familial periodic paralysis, Biology, MESH: Phenotype, MESH: Adrenal Cortex Hormones, MESH: Electromyography, 03 medical and health sciences, Hypokalemic periodic paralysis, Internal medicine, Genetics, medicine, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Amino Acid Sequence, MESH: Tissue Distribution, Potassium Channels, Inwardly Rectifying, Molecular Biology, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Molecular Sequence Data, Sequence Homology, Amino Acid, Electromyography, MESH: Adult, medicine.disease, MESH: Cercopithecus aethiops, MESH: Male, Endocrinology, MESH: Genes, Dominant, MESH: Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8c86fd1a51fd0b9e12ea4acde9e0a97Test
https://doi.org/10.1093/hmg/ddm034Test

المؤلفون: Frédéric Flamant, Jean-Louis Wémeau, Stéphanie Espiard, Virginie Vlaeminck-Guillem

المساهمون: Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire de Lille (CHU de Lille), Institut de Génomique Fonctionnelle de Lyon (IGFL), École normale supérieure - Lyon (ENS Lyon)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA)-École normale supérieure - Lyon (ENS Lyon), École normale supérieure de Lyon (ENS de Lyon)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)

المصدر: La Presse Médicale
La Presse Médicale, Elsevier Masson, 2015, 44 (11), pp.1103-1112. ⟨10.1016/j.lpm.2015.07.022⟩
La Presse Médicale, 2015, 44 (11), pp.1103-1112. ⟨10.1016/j.lpm.2015.07.022⟩

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], Thyrotropin, MESH: Triiodothyronine, MESH: Genotype, MESH: Child, MESH: Codon, Nonsense, MESH: Dwarfism, Age of Onset, Child, Frameshift Mutation, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genes, Dominant, MESH: Thyroid Hormone Resistance Syndrome, MESH: Middle Aged, Triiodothyronine, Thyroid, MESH: Frameshift Mutation, General Medicine, Middle Aged, Congenital hypothyroidism, MESH: Hyperlipoproteinemia Type II, medicine.anatomical_structure, Phenotype, Thyroid hormone receptor alpha, MESH: Young Adult, Codon, Nonsense, MESH: Thyrotropin, MESH: Psychomotor Disorders, Female, medicine.symptom, Psychomotor disorder, Thyroid Hormone Receptors alpha, Adult, Thyroid Hormone Resistance Syndrome, medicine.medical_specialty, Thyroid Hormones, MESH: Abnormalities, Multiple, Adolescent, Genotype, MESH: Age of Onset, MESH: Thyroid Hormone Receptors alpha, Mutation, Missense, Dwarfism, MESH: Phenotype, Short stature, MESH: Bradycardia, Hyperlipoproteinemia Type II, Young Adult, MESH: Thyroid Hormones, Internal medicine, medicine, Bradycardia, Humans, Point Mutation, [INFO]Computer Science [cs], Abnormalities, Multiple, MESH: Point Mutation, MESH: Adolescent, MESH: Mutation, Missense, MESH: Humans, Thyroid hormone receptor, business.industry, MESH: Adult, medicine.disease, MESH: Male, Endocrinology, Psychomotor Disorders, MESH: Genes, Dominant, business, MESH: Female, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88d0d3058ba479d4873b896d4f7460c9Test
https://pubmed.ncbi.nlm.nih.gov/26615083Test

المؤلفون: Marthe Vilotte, Patrick Calvas, Arnold Munnich, Nicolas Chassaing, Olivier Roche, Akihiko Tawara, Josseline Kaplan, Antoine Guilloux, Alain Regnier, Jean-Yves Douet, Arturo Ramirez-Miranda, Christine Bole-Feysot, Elfride De Baere, Hannah Verdin, Bruno Passet, Yusuke Nakamura, Juan Carlos Zenteno, Hiroyuki Kondo, Masaru Iwai, Ken Yamamoto, Toshihiro Tanaka, Sylvie Gerber, Jean-Michel Rozet, Jean-Luc Vilotte, Wataru Kimura, Lucas Fares-Taie, Isabelle Raymond-Letron, Hugo Moisset, Sylvie Odent

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Occupational and Environmental Health [Kitakyushu] (UEOH), Instituto de Oftalmologia Fundacion Conde de la Valenciana AC, Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Center for Medical Genetics [Ghent], Ghent University Hospital, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Kyushu University [Fukuoka], Ehime University [Matsuyama], Ehime University Graduate School of Medecine, Ehime Medical Center, Tokyo Medical and Dental University, Center for Integrative Medical Sciences (RIKEN), University of Chicago, Kimura Eye Clinic, Plateforme de génomique [SFR Necker], Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Toulouse, CHU Necker - Enfants Malades [AP-HP], This work was supported by grants from the Fédération des Aveugles de France (FAF) to LFT, Retina France to JMR and Geniris to JMR and PC, the Ministry of Education, Culture, Sport, Science and Technology of Japan Grant-in-aid N°20592067 to AT and the Conde de Valenciana Foundation patronage to ARM and JCZ., Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), University of Occupational and Environmental Health [Kitakyushu] ( UEOH ), Ecole Nationale Vétérinaire de Toulouse ( ENVT ), Institut National Polytechnique de Toulouse ( INPT ), Génétique Animale et Biologie Intégrative ( GABI ), Institut National de la Recherche Agronomique ( INRA ) -AgroParisTech, Center for Integrative Medical Sciences ( RIKEN ), Structure Fédérative de Recherche Necker ( SFR Necker - UMS 3633 / US24 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Toulouse (UT)-Université de Toulouse (UT), Kyushu University, Ehime University [Matsuyama, Japon], Laboratory for Cardiovascular Genomics and Informatics [Yokohama] (RIKEN IMS), RIKEN Center for Integrative Medical Sciences [Yokohama] (RIKEN IMS), RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN)-RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universidad Nacional Autónoma de México (UNAM), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Kagoshima University Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University [Japan] (TMDU), RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), The University of Chicago Medicine [Chicago], Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Université Paris Descartes - Paris 5 (UPD5), Federation des Aveugles de France (FAF), Retina France, Geniris, Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) 20592067, Conde de Valenciana Foundation patronage, Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research (KAKENHI) 15K05577 221S0002, CARBILLET, Véronique, Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. 〈10.1016/j.ajhg.2015.01.014〉
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩

مصطلحات موضوعية: MESH: Sequence Analysis, DNA, [SDV]Life Sciences [q-bio], MESH : Base Sequence, Chromosome Deletion, Chromosomes, Human, Pair 13/genetics, Comparative Genomic Hybridization, Gene Components, Genes, Dominant/genetics, Humans, Hydro-Lyases/genetics, Molecular Sequence Data, Mutation/genetics, Oligonucleotide Array Sequence Analysis, Pedigree, Pupil Disorders/congenital, Pupil Disorders/genetics, Pupil Disorders/pathology, Receptors, Cell Surface/genetics, Sequence Analysis, DNA, MESH: Receptors, Cell Surface / genetics, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Receptors, G-Protein-Coupled, MESH: Base Sequence, medicine.disease_cause, MESH: Pupil Disorders / pathology, Receptors, G-Protein-Coupled, 0302 clinical medicine, MESH: Genes, Dominant / genetics, Pupil Disorders, Myocyte, Genetics(clinical), MESH: Gene Components, 10. No inequality, MESH: Hydro-Lyases / genetics, MESH: Pupil Disorders / congenital, Genetics (clinical), Genes, Dominant, Genetics, 0303 health sciences, Mutation, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Microcoria, MESH: Pupil Disorders / genetics, MESH: Pedigree, Receptors, Cell Surface, Biology, 03 medical and health sciences, Dysgenesis, MESH: Chromosome Deletion, Report, medicine, Gene, Hydro-Lyases, 030304 developmental biology, Sequence (medicine), [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, Chromosomes, Human, Pair 13, [ SDV ] Life Sciences [q-bio], MESH: Mutation / genetics, Breakpoint, Sequence Analysis, DNA, MESH: Chromosomes, Human, Pair 13 / genetics, Molecular biology, MESH: Comparative Genomic Hybridization, MESH: Oligonucleotide Array Sequence Analysis, 030221 ophthalmology & optometry, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99149e10b70e92d38707142040f9a606Test
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134461/documentTest

المؤلفون: Georg W. Bornkamm, Jean Feuillard, Ibtissam Youlyouz-Marfak, Christophe Le Clorennec, Eric Adriaenssens, Jean Coll

المساهمون: Physiologie Moléculaire de la Réponse Immune et des Lymphoproliférations (PMRIL), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie de Lille - IBL (IBLI), Université de Lille, Sciences et Technologies-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Centre National de la Recherche Scientifique (CNRS)-Université de Lille, Droit et Santé, Université de Limoges (UNILIM)

المصدر: Blood
Blood, American Society of Hematology, 2006, 107 (5), pp.2070-8. ⟨10.1182/blood-2005-05-2053⟩

مصطلحات موضوعية: MESH: Signal Transduction, Epstein-Barr Virus Infections, Herpesvirus 4, Human, MESH: I-kappa B Proteins, T-Lymphocytes, MESH: Membrane Glycoproteins, MESH: NF-kappa B, Apoptosis, MESH: Estrogens, Biochemistry, chemistry.chemical_compound, NF-KappaB Inhibitor alpha, MESH: Genetic Vectors, hemic and lymphatic diseases, MESH: Animals, MESH: Interferon-Stimulated Gene Factor 3, STAT1, MESH: Tumor Suppressor Protein p53, Genes, Dominant, B-Lymphocytes, Membrane Glycoproteins, MESH: Epstein-Barr Virus Infections, biology, NF-kappa B, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, hemic and immune systems, MESH: Tumor Necrosis Factors, Interferon-Stimulated Gene Factor 3, Hematology, Transfection, Fas receptor, MESH: Gene Expression Regulation, MESH: Antigens, CD95, Cell biology, MESH: Cell Transformation, Viral, Tumor Necrosis Factors, I-kappa B Proteins, MESH: Epstein-Barr Virus Nuclear Antigens, Plasmids, Signal Transduction, MESH: Mutation, MESH: Cell Line, Tumor, Fas Ligand Protein, Genetic Vectors, Immunology, Virus, Viral Matrix Proteins, Viral Proteins, Immune system, MESH: Plasmids, MESH: B-Lymphocytes, Cell Line, Tumor, otorhinolaryngologic diseases, Animals, Humans, fas Receptor, MESH: Viral Matrix Proteins, MESH: Humans, MESH: Apoptosis, MESH: Herpesvirus 4, Human, Estrogens, NF-κB, Cell Biology, Cell Transformation, Viral, MESH: Viral Proteins, MESH: Fas Ligand Protein, IκBα, MESH: T-Lymphocytes, Epstein-Barr Virus Nuclear Antigens, Gene Expression Regulation, chemistry, Mutation, biology.protein, Cancer research, Tumor Suppressor Protein p53, MESH: Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56321671d67edc62075361327e9a45aTest
https://doi.org/10.1182/blood-2005-05-2053Test

المؤلفون: Jean-Michel Goujon, Mathieu Boimard, Corinne Lacombe, Violaine Planté-Bordeneuve, Philip N. Hawkins, Monica Stoppini, Julie A. Vrana, Mark B. Pepys, Guy Touchard, Vittorio Bellotti, Riccardo Porcari, Thierry Maisonobe, Franck Bridoux, Sophie Valleix, Julian D. Gillmore, Ahmet Dogan, Martino Bolognesi, Jason D. Theis, Pierre Lozeron, Sofia Giorgetti, Marc Delpech, Catherine Lacroix, Stefano Ricagno, David H. Adams, Brigitte Nedelec, Palma Mangione

المساهمون: Laboratoire de Biochimie et Génétique Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5), Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Service de néphrologie - hémodialyse et transplantation rénale, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Laboratoire d'anatomopathologie, Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ), Contrôle de la Réponse Immune B et des Lymphoproliférations ( CRIBL ), Centre National de la Recherche Scientifique ( CNRS ) -Université de Limoges ( UNILIM ) -Génomique, Environnement, Immunité, Santé, Thérapeutique ( GEIST FR CNRS 3503 ), Université de Poitiers-Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), Ischémie - Reperfusion en transplatation rénale, Université de Poitiers-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)

المصدر: New England Journal of Medicine
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. ⟨10.1056/NEJMoa1201356⟩
New England Journal of Medicine, Massachusetts Medical Society, 2012, 366 (24), pp.2276-83. 〈10.1056/NEJMoa1201356〉

مصطلحات موضوعية: Male, MESH: Hydrogen-Ion Concentration, Proteome, MESH: Protein Structure, Quaternary, MESH : beta 2-Microglobulin, MESH : Diarrhea, MESH: Monitoring, Physiologic, 0302 clinical medicine, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, MESH : Female, Genes, Dominant, 0303 health sciences, MESH: Middle Aged, biology, Amyloidosis, MESH: Infant, Newborn, Fibrillogenesis, MESH : Genes, Dominant, General Medicine, Middle Aged, MESH : Amyloidosis, Familial, Pedigree, MESH: Glass, MESH: Proteome, MESH: Diarrhea, Sjogren's Syndrome, MESH : Glass, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Protein folding, MESH: beta 2-Microglobulin, MESH : Scalp, Amyloidosis, Familial, Diarrhea, medicine.medical_specialty, Amyloid, MESH: Pedigree, MESH : Male, MESH : Proteome, MESH : Infant, Newborn, Fibril, MESH: Scalp, 03 medical and health sciences, MESH : Hydrogen-Ion Concentration, MESH : Protein Structure, Quaternary, Internal medicine, medicine, Humans, MESH : Middle Aged, MESH: Fetal Blood, Protein Structure, Quaternary, 030304 developmental biology, MESH : Fetal Blood, MESH: Humans, Beta-2 microglobulin, business.industry, MESH : Humans, MESH : Monitoring, Physiologic, MESH: Electrodes, medicine.disease, MESH: Amyloidosis, Familial, In vitro, MESH: Male, Transthyretin, Endocrinology, MESH: Sjogren's Syndrome, MESH : Pedigree, biology.protein, MESH : Sjogren's Syndrome, beta 2-Microglobulin, business, MESH: Genes, Dominant, MESH: Female, 030217 neurology & neurosurgery, MESH : Electrodes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18435b30031fa045cb32f5f7758d6d3Test
https://hal.archives-ouvertes.fr/hal-00945706Test

المؤلفون: David C. Hancock, Catherine Barthélémy, Brigitte Pettmann, Arnaud Couzinet, Anne-Odile Hueber, Cédric Raoul

المساهمون: Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS), Développement et pathologie du motoneurone, Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Lincoln's Inn Fields Laboratories, Cancer Research UK, Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Neurobiology
Journal of Neurobiology, Wiley, 2005, 62, pp.178-188
Journal of Neurobiology, Wiley, 2005, 62 (2), pp.178-88. ⟨10.1002/neu.20086⟩
Journal of Neurobiology, 2005, 62, pp.178-188

مصطلحات موضوعية: Indoles, Time Factors, MESH: Membrane Glycoproteins, Fluorescent Antibody Technique, MESH: Nitric Oxide Synthase Type I, Apoptosis, Cell Count, Nitric Oxide Synthase Type I, MESH: Spinal Cord, Mice, 0302 clinical medicine, MESH: Reverse Transcriptase Polymerase Chain Reaction, Transcriptional regulation, MESH: Animals, MESH: Nerve Tissue Proteins, FADD, MESH: In Situ Nick-End Labeling, MESH: Fluorescent Antibody Technique, Genes, Dominant, MESH: Indoles, Motor Neurons, 0303 health sciences, Membrane Glycoproteins, biology, MESH: Peptides, Reverse Transcriptase Polymerase Chain Reaction, General Neuroscience, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Fas receptor, MESH: Antigens, CD95, Cell biology, Spinal Cord, MESH: Nitric Oxide Synthase, Co-Repressor Proteins, Oligopeptides, MESH: Motor Neurons, Genetically modified mouse, Programmed cell death, Fas Ligand Protein, MESH: Mice, Transgenic, Transgene, Green Fluorescent Proteins, MESH: Carrier Proteins, [SDV.CAN]Life Sciences [q-bio]/Cancer, Mice, Transgenic, Nerve Tissue Proteins, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, MESH: Green Fluorescent Proteins, Death-associated protein 6, MESH: Mice, Inbred C57BL, MESH: Intracellular Signaling Peptides and Proteins, In Situ Nick-End Labeling, Animals, RNA, Messenger, fas Receptor, MESH: Mice, MESH: Adaptor Proteins, Signal Transducing, MESH: RNA, Messenger, Adaptor Proteins, Signal Transducing, 030304 developmental biology, MESH: Cell Count, MESH: Apoptosis, MESH: Time Factors, MESH: Embryo, Mammalian, JNK Mitogen-Activated Protein Kinases, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: JNK Mitogen-Activated Protein Kinases, Embryo, Mammalian, MESH: Fas Ligand Protein, Mice, Inbred C57BL, nervous system, biology.protein, Nitric Oxide Synthase, MESH: Genes, Dominant, Carrier Proteins, Peptides, MESH: Nuclear Proteins, 030217 neurology & neurosurgery, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cc9ee7dfdbf46cc783dd598e3d09f66Test
https://doi.org/10.1002/neu.20086Test