المؤلفون: Ketan R. Bulsara, Yuka Takemon, Marco Giovannini, William H. Slattery, Kevin A. Peng, Chew Yee Ngan, Rahul Maurya, Juanjuan Zhao, Jeremie Vitte, Liang Gong, Chia-Lin Wei, Chee Hong Wong, Marc S. Schwartz, Daniel S. Roberts, Gregory P. Lekovic

المصدر: Otology & Neurotology. 40:e150-e159

مصطلحات موضوعية: Male, Neurofibromatosis 2, medicine.disease_cause, Structural variation, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), Gene expression, otorhinolaryngologic diseases, Humans, Medicine, Allele, Neurofibromatosis type 2, 030223 otorhinolaryngology, Gene, Genetics, business.industry, Genetic Variation, Neuroma, Acoustic, medicine.disease, Phenotype, Sensory Systems, Otorhinolaryngology, Mutation, Neurology (clinical), business, Carcinogenesis, 030217 neurology & neurosurgery, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b7fd0f69832aa9432e1f7c214d72c36Test
https://doi.org/10.1097/mao.0000000000002096Test

المؤلفون: Sara H. Isakson, Anat Stemmer-Rachamimov, Christopher L. Moertel, David A. Largaespada, David H. Gutmann, Ludwine Messiaen, Alexander W. Coutts, G. Elizabeth Pluhar, Jeremie Vitte, Adrienne L. Watson, Scott C. Fahrenkrug, Nancy Ratner, Daniel F. Carlson, Marco Giovannini, Anthony E. Rizzardi, Eva Dombi, Mark N. Kirstein, Kyle B. Williams, James Fisher, Tilat A. Rizvi, Sonika Dahiya, Brigitte C. Widemann

المصدر: Communications Biology, Vol 1, Iss 1, Pp 1-11 (2018)
Communications biology, vol 1, iss 1
Communications Biology

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Medicine (miscellaneous), Disease, General Biochemistry, Genetics and Molecular Biology, Article, Neurofibromatosis, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Medicine, Protein kinase A, neoplasms, lcsh:QH301-705.5, Cancer, biology, business.industry, Genetically engineered, Kinase, Neurosciences, medicine.disease, Neurofibromin 1, eye diseases, 3. Good health, Brain Disorders, nervous system diseases, Brain Cancer, 030104 developmental biology, lcsh:Biology (General), 030220 oncology & carcinogenesis, biology.protein, Cancer research, Cancer development, General Agricultural and Biological Sciences, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9518b2ff866c564aba25172576226edfTest
http://link.springer.com/article/10.1038/s42003-018-0163-yTest

المؤلفون: Chunling Yi, Jeremie Vitte, Chan Nguyen, Yuhao Shi, Shannon M. White, Hengye Chen, Saumya R. Bollam, Jeffery A. Toretsky, Garrett T. Graham, Marco Giovannini, Mandheer Wadhwa, Sean Z. Laughlin

المصدر: Developmental cell, vol 39, iss 4

مصطلحات موضوعية: rac1 GTP-Binding Protein, 0301 basic medicine, senescence, Carcinogenesis, Tumor initiation, DNA damage response, medicine.disease_cause, Medical and Health Sciences, Mice, 2.1 Biological and endogenous factors, Aetiology, Extracellular Signal-Regulated MAP Kinases, Cellular Senescence, Cancer, Cyclin, Mice, Knockout, Neurofibromin 2, Cell Cycle, NF-kappa B, ROS, Organ Size, Biological Sciences, Phenotype, Liver, Yap, Meningioma, Neurilemmoma, Rac1, Hepatomegaly, Signal Transduction, Senescence, DNA damage, Knockout, RAC1, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Neurofibromatosis, Proinflammatory cytokine, 03 medical and health sciences, Rare Diseases, Genetics, otorhinolaryngologic diseases, medicine, Animals, Humans, Molecular Biology, Cell Proliferation, Inflammation, Neurosciences, Epithelial Cells, Cell Biology, Cell Dedifferentiation, Merlin (protein), 030104 developmental biology, NF2, Hepatocytes, Cancer research, Tumor Suppressor Protein p53, Reactive Oxygen Species, Proto-Oncogene Proteins c-akt, Gene Deletion, Biomarkers, DNA Damage, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c811fd1e4d302297e2598034d7cb143Test
https://doi.org/10.1016/j.devcel.2016.09.027Test

المؤلفون: Stephani Klingeman Plati, Denise Yan, Olena Bracho, Long-Sheng Chang, Marco Giovannini, Joanna Kirkpatrick, Marisa A. Fuse, Maria Clara Franco, Jackson Nagamoto, Helen Morrison, Fred F. Telischi, Alicja J. Copik, Rulong Shen, Cristina Fernandez-Valle, Xue Zhong Liu, Annemarie Carlstedt, Konstantin Brnjos, Jie Huang, Alejandra M. Petrilli, Jeremie Vitte, Thomas Mindos, Julia N. Soulakova, Christine T. Dinh, Juan I. Young, Rahul Mittal

المصدر: Neuro-oncology, vol 21, iss 4

مصطلحات موضوعية: MAPK/ERK pathway, Cancer Research, MAP Kinase Kinase 2, MAP Kinase Kinase 1, Drug Resistance, methylome, chemistry.chemical_compound, Mice, Neuroma, 0302 clinical medicine, Piperidines, Neurofibromatosis type 2, MEK inhibitors, merlin tumor suppressor, Cancer, Trametinib, Pediatric, Kinase, Neuroma, Acoustic, Oncology, 5.1 Pharmaceuticals, 030220 oncology & carcinogenesis, Basic and Translational Investigations, DNA methylation, Development of treatments and therapeutic interventions, Biotechnology, Neurofibromatosis 2, Pyridones, Cell Survival, Oncology and Carcinogenesis, Antineoplastic Agents, Pyrimidinones, patient-derived vestibular schwannomas, Neurofibromatosis, 03 medical and health sciences, Cyclin D1, NF2 transgenic mice, Rare Diseases, otorhinolaryngologic diseases, medicine, Genetics, Animals, Humans, Oncology & Carcinogenesis, Acoustic, Protein Kinase Inhibitors, Cell Proliferation, Cobimetinib, business.industry, Neurosciences, medicine.disease, Merlin (protein), chemistry, Drug Resistance, Neoplasm, Cancer research, Azetidines, Neoplasm, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ae489166e9a469edef1883c3ba0977Test
https://escholarship.org/uc/item/1rn637vgTest

المؤلفون: Alexander R. Judkins, Jeremie Vitte, Marco Giovannini, Fuying Gao, Giovanni Coppola

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
Nature communications, vol 8, iss 1
Nature Communications

مصطلحات موضوعية: Male, 0301 basic medicine, Time Factors, General Physics and Astronomy, Kaplan-Meier Estimate, Gene mutation, Schwannoma, medicine.disease_cause, Transgenic, Mice, Conditional gene knockout, SMARCB1, Child, Schwannomatosis, Cancer, Pediatric, Mice, Knockout, Neurofibromin 2, Multidisciplinary, SMARCB1 Protein, Female, Neurilemmoma, Knockout, Science, Mice, Transgenic, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Neurofibromatosis, Rhabdoid Tumor Predisposition Syndrome, 03 medical and health sciences, Rare Diseases, Germline mutation, Genetics, otorhinolaryngologic diseases, medicine, Animals, Humans, Rhabdoid Tumor, Germ-Line Mutation, Animal, Gene Expression Profiling, Neurosciences, General Chemistry, medicine.disease, Brain Disorders, Brain Cancer, Disease Models, Animal, Orphan Drug, 030104 developmental biology, Disease Models, Cancer research, Carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c551042199e32356c33ba60c6d8eb0Test
https://doi.org/10.1038/s41467-017-00346-5Test

المؤلفون: Gabriele Lorenzo Capone, Marco Giovannini, Anna Laura Putignano, Roberta Sestini, Jeremie Vitte, Laura Papi, Irene Paganini

المصدر: Journal of neuro-oncology. 137(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cancer Research, Chromosomes, Human, Pair 22, Schwannoma, Biology, medicine.disease_cause, 03 medical and health sciences, Young Adult, otorhinolaryngologic diseases, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, SMARCB1, Neurofibromatosis type 2, Schwannomatosis, Child, neoplasms, Aged, Mutation, Neurofibromin 2, Spinal Neoplasms, Neuroma, Acoustic, SMARCB1 Protein, Middle Aged, medicine.disease, nervous system diseases, 030104 developmental biology, Neurology, Oncology, Cancer research, Female, Neurology (clinical), Carcinogenesis, Chromosome 22, Neurilemmoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bdd2dd63543c91474d30cc4db3d1cdTest
https://pubmed.ncbi.nlm.nih.gov/29230670Test

المؤلفون: Jeremie Vitte, Anne Tarrade, Sabrina Courageot, Judith Melki, Etienne Mouisel, Delphine Charvin, Alain Thorel, Andrée Dierich, Nuria Fonknechten, Danielle Seilhean, Coralie Fassier, Natacha Roblot, Leticia Peris, Jean Jacques Hauw

المساهمون: Neurogenetique Moleculaire, Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Organisation Fonctionnelle du Cytosquelette, Université Joseph Fourier - Grenoble 1 (UJF)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR27, Centre des Matériaux (MAT), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Génomique métabolique (UMR 8030), Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Université d'Évry-Val-d'Essonne (UEVE), Laboratoire de Neuropathologie Raymond Escourolle, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Collaboration, Centre des Matériaux (CDM), Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université d'Évry-Val-d'Essonne (UEVE)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], Université Pierre et Marie Curie - Paris 6 (UPMC)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Andrieux, Annie

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2006, 15 (24), pp.3544-58. ⟨10.1093/hmg/ddl431⟩
Human Molecular Genetics, 2006, 15 (24), pp.3544-58. ⟨10.1093/hmg/ddl431⟩

مصطلحات موضوعية: Central Nervous System, Spastin, MESH: Base Sequence, Microtubules, MESH: Mice, Knockout, Mice, MESH: Protein Structure, Tertiary, 0302 clinical medicine, MESH: Behavior, Animal, MESH: Animals, Axon, Cells, Cultured, Genetics (clinical), MESH: Heterozygote, Adenosine Triphosphatases, Cerebral Cortex, Mice, Knockout, Motor Neurons, Genetics, 0303 health sciences, Behavior, Animal, MESH: Microtubules, Homozygote, Exons, General Medicine, Cell biology, medicine.anatomical_structure, MESH: Microscopy, Electron, Transmission, Microtubule-Associated Proteins, MESH: Motor Neurons, MESH: Homozygote, MESH: Cells, Cultured, Heterozygote, MESH: Axons, MESH: Mutation, Neurite, Microtubule-associated protein, MESH: Biological Transport, Blotting, Western, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, 03 medical and health sciences, Microscopy, Electron, Transmission, Microtubule, Neurites, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Adenosine Triphosphatases, medicine, Animals, MESH: Blotting, Western, MESH: Central Nervous System, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Growth cone, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, MESH: Mice, Molecular Biology, 030304 developmental biology, Base Sequence, Biological Transport, MESH: Neurites, Axons, MESH: Cerebral Cortex, Protein Structure, Tertiary, MESH: Microtubule-Associated Proteins, MESH: Gene Deletion, Mutation, Axoplasmic transport, Neuron, MESH: Exons, Gene Deletion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4159773108b3be0584bbee0efdbb500Test
https://doi.org/10.1093/hmg/ddl431Test

المؤلفون: Michel Hamon, Jeremie Vitte, Charles Cohen-Salmon, Philipp J. Kahle, Fabien Cornilleau, Margot Fournier, Hilal A. Lashuel, Naïma Hanoun, René Duchateau, Sabine Traver, Katerina E. Paleologou, Cécile Goujet-Zalc, Fernando Perez-Diaz, Chantal Joubert, Françoise Saurini, Olga Corti, Alexis Brice, Christian Haass, Jérôme Garrigue, Hector Ardila-Osorio, Charles Duyckaerts, Jean-Philippe Dullin, Dominique Langui

المساهمون: Neurogenetique Moleculaire, Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Mécanismes adaptatifs : des organismes aux communautés (MAOAC), Muséum national d'Histoire naturelle (MNHN)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Institut de médecine moléculaire de Rangueil (I2MR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)- Institut Fédératif de Recherche Bio-médicale Institution (IFR150)-Institut National de la Santé et de la Recherche Médicale (INSERM), Vulnérabilité Adaptation et Psychopathologie (VAP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-IFR150-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuropsychopharmacologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC)

المصدر: PLoS ONE
PLoS ONE, 2009, 4 (8), pp.e6629. ⟨10.1371/journal.pone.0006629⟩
PLoS ONE, Public Library of Science, 2009, 4 (8), pp.e6629. ⟨10.1371/journal.pone.0006629⟩
PLoS ONE, Vol 4, Iss 8, p e6629 (2009)

مصطلحات موضوعية: Pathology, lcsh:Medicine, Rat Model, Polymerase Chain Reaction, Parkin, Biochemistry/Protein Folding, Mice, 0302 clinical medicine, Ubiquitin, Phosphorylation, lcsh:Science, Neurological Disorders/Movement Disorders, 0303 health sciences, Multidisciplinary, biology, Parkinsonism, Parkinson Disease, Immunohistochemistry, [SCCO.PSYC]Cognitive science/Psychology, Research Article, Genetically modified mouse, medicine.medical_specialty, Programmed cell death, Neurite, Ubiquitin-Protein Ligases, Transgene, Synucleins, Mice, Transgenic, Motor Activity, Transgenic Mice, Drosophila Model, 03 medical and health sciences, Human Alpha-Synuclein, Internal medicine, medicine, Animals, Cell-Death, DNA Primers, 030304 developmental biology, Synucleinopathies, Base Sequence, Protein, lcsh:R, Ubiquitination, medicine.disease, nervous system diseases, Disease Models, Animal, Endocrinology, Genetics and Genomics/Disease Models, nervous system, biology.protein, lcsh:Q, Lewy Bodies, Inclusion-Body Formation, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d67272c0e87e69a8e181e414014388Test
https://hal.science/hal-00541956Test