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المؤلفون: Maria Tsingas, Ruteja A. Barve, Véronique Lefebvre, Makarand V. Risbud, Olivia K. Ottone, Abdul Haseeb, Irving M. Shapiro
المصدر: Matrix Biol
مصطلحات موضوعية: 0301 basic medicine, endocrine system, Bone Matrix, Apoptosis, Intervertebral Disc Degeneration, SOX9, Degeneration (medical), Biology, Article, Chondrocyte, Extracellular matrix, Mice, 03 medical and health sciences, Chondrocytes, 0302 clinical medicine, stomatognathic system, Notochord, medicine, Animals, Humans, Compartment (development), Molecular Biology, Mice, Knockout, Cell Differentiation, SOX9 Transcription Factor, Intervertebral disc, musculoskeletal system, Spinal column, Cell Compartmentation, Extracellular Matrix, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, 030220 oncology & carcinogenesis, embryonic structures, Transcriptome
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المؤلفون: Véronique Lefebvre, Kensuke Suga, Shigeru Tanaka, Koichi Hirose, Takahiro Kageyama, Hiroki Furuya, Taro Iwamoto, Kotaro Suzuki, Arifumi Iwata, Kenichi Suehiro, Akira Suto, Hiroshi Nakajima
المصدر: Cell Mol Immunol
مصطلحات موضوعية: 0301 basic medicine, F-Box-WD Repeat-Containing Protein 7, Cellular differentiation, Immunology, GATA3 Transcription Factor, Article, SOXC Transcription Factors, Allergic inflammation, Mice, 03 medical and health sciences, Th2 Cells, 0302 clinical medicine, Immune system, medicine, Animals, Immunology and Allergy, Gene knockdown, biology, Chemistry, Pyroglyphidae, Ubiquitination, GATA3, Th1 Cells, Eosinophil, Asthma, SoxC group, Cell biology, Ubiquitin ligase, 030104 developmental biology, Infectious Diseases, medicine.anatomical_structure, biology.protein, Cytokines, Th17 Cells, 030215 immunology
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المؤلفون: Ashley N. Sigafoos, Salima El Chehadeh, Marcia C. Willing, Ela Akay, Florian Cherik, Anne-Marie E. Goyette, Vinodh Narayanan, Diane Masser-Frye, Catherine Karimov, Rhonda E. Schnur, Rebekah Bressi, Rhys H. Thomas, Gary D. Clark, Tina Barbaro-Dieber, Jill A. Rosenfeld, Carlos A. Bacino, Maria J. Guillen Sacoto, Laura Russell, Kristin Lindstrom, Caroline Schluth-Bolard, Xia Wang, Yvonne Hilhorst-Hofstee, Marcelo Vargas, Zehua Zhu, Ash Zawerton, Boris Keren, Mariëtte J.V. Hoffer, Isabelle Marey, Alice Poisson, Daphné Lehalle, Maries Joseph, Gaetan Lesca, Simon Zwolinski, Laurence Perrin, Rhoda Akilapa, Emilia K. Bijlsma, Christel Depienne, Amélie Piton, Claire G. Salter, Lucie Dupuis, Daryl A. Scott, Jolien S. Klein Wassink-Ruiter, Benjamin Cogné, Mathilde Nizon, Richard Chang, Kirsty McWalter, Myriam Srour, Perrine Charles, Anne-Claude Tabet, Natalie Canham, Sylvie Odent, Caroline Nava, Karl J. Clark, Elizabeth J. Bhoj, Jonathan Levy, Keri Ramsey, Yves Alembik, Lucia Ortega, Sophie Dupuis-Girod, Shoji Ichikawa, Christine Francannet, Marta Bertoli, Christèle Dubourg, Eric W. Klee, Ange-Line Bruel, Sebastien Moutton, Emily Fassi, Anthony Vandersteen, Abdul Haseeb, Antonina Wojcik, Patrick R. Blackburn, Lynne M. Bird, Patrick Rump, Véronique Lefebvre, Alma Kuechler, Sophie Nambot, Keren Machol, Cyril Mignot, Andreas Hartmann, Rossana Sanchez Russo, Erica H. Gerkes, Sylvie Jaillard, Roberto Mendoza-Londono, Trevor Cole, Pauline Monin
المساهمون: Cleveland Clinic, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Centre d'Etude et de Recherche Multimodal Et Pluridisciplinaire en imagerie du vivant (CERMEP - imagerie du vivant), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), 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 ), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Health Sciences Research [Mayo Clinic] (HSR), Mayo Clinic, This research was funded in part by the Agence Nationale de la Recherche and European High-Functioning Autism Network (ANR EUHFAUTISM), the Assistance Publique–Hôpitaux de Paris (AP-HP), the Institut National de la Santé et de la Recherche Médicale (INSERM), the BioPsy labex (to Christel Depienne and C.N.) and the Association Française du Syndrome Gilles de la Tourette (AFSGT) to Christel Depienne. It was also funded by the Cleveland Clinic Lerner Research Institute (LRI Chair’s Innovative Research Award to V.L.), and by Harper’s Quest and the LAMSHF Syndrome Research Fund (donations to V.L.) and the Center for Individualized Medicine, Mayo Clinic. This study makes use of data generated by the DECIPHER community and the Deciphering Developmental Disorders (DDD) Study, which is funded by the Wellcome Trust. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network., We thank the patients and their families for their participation in this study, and the C4RCD Research Group (Newell Belnap, Amanda Courtright, Ana Claasen, David Craig, Matt Huentelman, Madison LaFleur, Sampathkumar Rangasamy, Ryan Richholt, Isabelle Schrauwen, Ashley L. Siniard, and Szabolics Szelinger) for providing clinical information on patient P18., Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Centre d'Exploration et de Recherche Médicales par Émission de Positons (CERMEP), Université Joseph Fourier - Grenoble 1 (UJF)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 3
Genetics in Medicine, 22(3), 524-537. Nature Publishing Group
Genet Med
Genetics in Medicine, 22(3), 524-537. NATURE PUBLISHING GROUPمصطلحات موضوعية: Male, Medizin, Haploinsufficiency, L-SOX5, VARIANTS, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Missense mutation, 2.1 Biological and endogenous factors, Aetiology, Child, Genetics (clinical), Genetics, Pediatric, Genetics & Heredity, 0303 health sciences, Pedigree, FAMILY, DNA-Binding Proteins, developmental delay, TRANSCRIPTION FACTORS, Phenotype, intellectual disability, Child, Preschool, missense variants, Female, SOXD Transcription Factors, Adult, EXPRESSION, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Mutation, Missense, autism, Cell fate determination, Biology, LONG FORM, SEQUENCE, Article, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, CARTILAGE, Intellectual Disability, medicine, Animals, Humans, Language Development Disorders, Genetic Predisposition to Disease, Preschool, Transcription factor, Gene, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MUTATIONS, Human Genome, Infant, medicine.disease, Brain Disorders, Neurodevelopmental Disorders, Deciphering Developmental Disorder Study, Mutation, Autism, epilepsy, Missense, 030217 neurology & neurosurgery, GENERATION
وصف الملف: application/pdf
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المؤلفون: Abdul Haseeb, Véronique Lefebvre, Marco Angelozzi
المصدر: Curr Opin Cell Biol
مصطلحات موضوعية: Regulation of gene expression, 0303 health sciences, Lineage (genetic), SOX9 Transcription Factor, Cell Biology, Computational biology, Disease, Cartilage metabolism, Biology, Chondrogenesis, Article, 03 medical and health sciences, Transactivation, Cartilage, Chondrocytes, 0302 clinical medicine, Gene Expression Regulation, Animals, Humans, Protein Processing, Post-Translational, Gene, Transcription factor, 030217 neurology & neurosurgery, 030304 developmental biology
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المؤلفون: Marco Angelozzi, Véronique Lefebvre
المصدر: Trends Genet
مصطلحات موضوعية: endocrine system, Developmental Disabilities, Haploinsufficiency, Biology, Cell fate determination, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Missense mutation, Gene, Transcription factor, SOX Transcription Factors, 030304 developmental biology, 0303 health sciences, Mutation, Gene Expression Regulation, Developmental, Sex reversal, Sex-Determining Region Y Protein, Testis determining factor, SOXD Transcription Factors, 030217 neurology & neurosurgery
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المؤلفون: Véronique Lefebvre, Abdul Haseeb
المصدر: Nucleic Acids Research
مصطلحات موضوعية: Transcriptional Activation, Recombinant Fusion Proteins, Protein domain, SOX10, Amino Acid Motifs, Mutation, Missense, Sequence alignment, Biology, Cell fate determination, SOXE Transcription Factors, Conserved sequence, Cell Line, Evolution, Molecular, 03 medical and health sciences, Transactivation, 0302 clinical medicine, Protein Domains, Genetics, Humans, Transcription factor, Molecular Biology, Conserved Sequence, 030304 developmental biology, 0303 health sciences, Sequence Homology, Amino Acid, SOX9 Transcription Factor, 3. Good health, 030220 oncology & carcinogenesis, embryonic structures, Sequence Alignment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe2321e0e650e8e4f9e6311bf2d88114
http://europepmc.org/articles/PMC6649842 -
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المؤلفون: Takahiro Kageyama, Shigeru Tanaka, Koichi Hirose, Kotaro Suzuki, Osamu Ohara, Tomohiro Tamachi, Hiroshi Nakajima, Hiroaki Takatori, Véronique Lefebvre, Akira Suto, Taro Iwamoto
المصدر: The Journal of Experimental Medicine
مصطلحات موضوعية: 0301 basic medicine, Gut inflammation, T reg cells, Adoptive cell transfer, Immunology, chemical and pharmacologic phenomena, T-Lymphocytes, Regulatory, SOXC Transcription Factors, Mice, 03 medical and health sciences, Foxp3 expression, Transforming Growth Factor beta, Transcription (biology), medicine, Animals, Immunology and Allergy, Colitis, Research Articles, Mice, Knockout, Mice, Inbred BALB C, Chemistry, Brief Definitive Report, FOXP3, Cell Differentiation, Forkhead Transcription Factors, hemic and immune systems, medicine.disease, Cell biology, Disease Models, Animal, 030104 developmental biology, Signal transduction, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6675c845a38cb08361c6147732762be8
https://doi.org/10.1084/jem.20172082 -
8
المؤلفون: Yasuhiro Nanri, Kenji Izuhara, Satoshi Nunomura, Véronique Lefebvre
المصدر: Biochem Biophys Res Commun
مصطلحات موضوعية: 0301 basic medicine, Aging, Proto-Oncogene Proteins c-jun, Biophysics, Embryonic Development, Biology, Fibroblast growth factor, Biochemistry, Eyelid closure, Article, SOXC Transcription Factors, Cornea, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Molecular Biology, Transcription factor, Process (anatomy), Inflammation, Mice, Knockout, FGF10, Eyelids, Epithelial Cells, Cell Biology, Embryo, Mammalian, Embryonic stem cell, eye diseases, Actins, Cell biology, body regions, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Eyelid, sense organs, Embryonic eye
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المؤلفون: Véronique Lefebvre, Charles de Charleroy, Abdul Haseeb
المصدر: Methods Mol Biol
Methods in Molecular Biology ISBN: 9781071611180مصطلحات موضوعية: 0301 basic medicine, Data Analysis, Gene Expression, In situ hybridization, Article, Bone and Bones, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, In vivo, Gene expression, medicine, Image Processing, Computer-Assisted, Animals, Paraformaldehyde, In Situ Hybridization, 030203 arthritis & rheumatology, Chemistry, Cartilage, RNA, Molecular biology, Immunohistochemistry, Staining, 030104 developmental biology, medicine.anatomical_structure, Immunostaining
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aadf2a91229e1ceba27d2fd1045eff08
https://europepmc.org/articles/PMC9063681/ -
10Global range expansion history of pepper (Capsicum spp.) revealed by over 10,000 genebank accessions
المؤلفون: Roland Schafleitner, Arnaud G. Bovy, Gancho Pasev, Sandip Kale, Jérémy Salinier, Salvatore Esposito, Sergio Lanteri, Nils Stein, Mark Timothy Rabanus-Wallace, Lorenzo Barchi, Filiz Boyaci, Véronique Lefebvre, Ilan Paran, Ronny Brandt, Ezio Portis, Andreas Börner, Alberto Acquadro, Bernard Caromel, Jaime Prohens, Axel Himmelbach, María José Díez, Richard Finkers, Pasquale Tripodi, Giovanni Giuliano, Maarten van Zonneveld
المساهمون: Consiglio Nazionale delle Ricerche (CNR), Universita di Torino, International Crops Research Institute for the Semi-Arid Tropics [Inde] (ICRISAT), Consultative Group on International Agricultural Research [CGIAR] (CGIAR), Dipartimento di Scienze Agrarie, Forestali e Alimentari, Università degli studi di Torino (UNITO), World Vegetable Center, Instituto de Conservación y Mejora de la Agrodiversidad Valenciana, Universitat Politècnica de València (UPV)
المصدر: Proceedings of the National Academy of Sciences of the United States of America 118 (2021) 34
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, 2021, 118 (34), pp.e2104315118. ⟨10.1073/pnas.2104315118⟩
Proceedings of the National Academy of Sciences of the United States of America, 118(34)مصطلحات موضوعية: 0106 biological sciences, population genomics, [SDV]Life Sciences [q-bio], Population, routes of diversification, Quantitative Trait Loci, Genome-wide association study, Biology, genebank, 01 natural sciences, Polymorphism, Single Nucleotide, Chromosomes, Plant, Population genomics, 03 medical and health sciences, pepper, Pepper, Genebank, GWAS, Domestication, education, Selection (genetic algorithm), 030304 developmental biology, 2. Zero hunger, 0303 health sciences, Genetic diversity, education.field_of_study, Multidisciplinary, Agricultural Sciences, food and beverages, Genomics, 15. Life on land, Biological Sciences, Routes of diversification, Plant Breeding, Genetics, Population, Evolutionary biology, Genetic structure, EPS, Capsicum, Genome, Plant, 010606 plant biology & botany
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f8735066cdb9ac6271a8501ef99805
https://research.wur.nl/en/publications/global-range-expansion-history-of-pepper-capsicum-spp-revealed-by