المؤلفون: Volpon, Laurent, Culjkovic-Kraljacic, Biljana, Osborne, Michael J., Ramteke, Anup, Sun, Qingxiang, Niesman, Ashley, Chook, Yuh Min, Borden, Katherine L. B.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2016 May 01. 113(19), 5263-5268.

URL الوصول: https://www.jstor.org/stable/26469554

المؤلفون: Abdulrahman Almesned, Dorien Schepers, Mehran Beiraghi Toosi, Zuhair N. Al-Hassnan, Jill A. Rosenfeld, Erin M. Miller, Hassan Mottaghi Moghaddam Shahri, Maaike Alaerts, Melanie Perik, Desiderio Rodrigues, Aline Verstraeten, Reza Maroofian, Silke Peeters, Cédric H. G. Neutel, Ilse Luyckx, Nicole Revencu, Jenny C. Taylor, Jarl Bastianen, Isabel Pintelon, Henry Houlden, Matteo P. Ferla, Erik Fransen, Kayal Vijayakumar, Lut Van Laer, Anthony R. Dallosso, Mandy Vermont, Isabelle Maystadt, Lotte Van Den Heuvel, Thierry Sluysmans, David Murphy, K. Nicole Weaver, Paria Najarzadeh Torbati, Jotte Rodrigues Bento, Amber Begtrup, Maggie Williams, Ilse Van Gucht, Maaike Bastiaansen, Ashish Chikermane, Gangadhara Bharmappanavara, Alistair T. Pagnamenta, Bart Loeys, Joe Davis Velchev, Julie Evans, Josephina A.N. Meester, Narges Hashemi, Julie Vogt, Pieter-Jan Guns

المساهمون: Genomics England Res Consortium

المصدر: The American Journal of Human Genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, MMP2, Loss of Heterozygosity, Importin, 030204 cardiovascular system & hematology, Biology, Importin 8, Loeys–Dietz syndrome, Thoracic aortic aneurysm, Mice, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Loss of Function Mutation, Transforming Growth Factor beta, Report, TGF beta signaling pathway, Genetics, medicine, Animals, Humans, Child, Genetics (clinical), Mice, Knockout, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Aortic Aneurysm, Thoracic, Syndrome, beta Karyopherins, medicine.disease, Pedigree, Cell biology, Mice, Inbred C57BL, CTGF, Phenotype, 030104 developmental biology, Child, Preschool, Knockout mouse, Female, Human medicine, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24e6c0679dae811ef67aedbd6e7ffa5
https://doi.org/10.1016/j.ajhg.2021.04.019

المؤلفون: Karine Duroure, Estelle Colin, Thomas Edouard, Ludovic Martin, Linda Grimaud, Lyndon Gallacher, George McGillivray, Guy Lenaers, Valérie Desquiret-Dumas, Clarisse Billon, Anne Breton, Mohammed Zarhrate, Emmanuel Mas, Dominique Bonneau, Lynn Pais, Daniel Henrion, Thomas Haaf, Reza Maroofian, Marianna Parlato, Frank M. Ruemmele, Anne-Laure Guihot, Anaïs Philippe, Ehsan Ghayoor Karimiani, Pauline E. Schneeberger, Stanislas Lyonnet, Bernadette Bègue, Bruno Moulin, Rémi Duclaux-Loras, Nicolas Cagnard, Michael Frank, Laurence Faivre, Ruben Attali, Yves Alembik, Filippo Del Bene, Kerstin Kutsche, Céline Revenu, Fabienne Charbit-Henrion, Katta M. Girisha, Aboulfazl Rad, Eyal Reinstein, Shalini S. Nayak, Barbara Vona, Nadine Cerf-Bensussan, Caroline Lekszas, Shay Tzur, Alban Ziegler, Susan M. White

المساهمون: Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratory of Intestinal Immunity (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Ingénierie Radioprotection Sûreté Démantèlement (IRSD), Centre National de la Recherche Scientifique (CNRS), Geroscience and rejuvenation research center (RESTORE), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Embryology and genetics of human malformation, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital de Hautepierre [Strasbourg], Nouvel Hôpital Civil de Strasbourg, Tel Aviv University (TAU), Emedgene Technologies [Tel Aviv], Murdoch Children's Research Institute (MCRI), Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Kasturba Medical College, Manipal, Massachusetts Institute of Technology (MIT), University College of London [London] (UCL), Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, St George's, University of London, University of Würzburg = Universität Würzburg, Fondation Princesse Grace, Fondation Maladies Rares, Harbig Family Foundation, Royal Children's Hospital Foundation, University of Tubingen (2545-1-0), Federal Ministry of Education and Research (01DQ17003 to K.K.), Indian Council of Medical Research (file no. 5/7/1508/2016 to K.M.G), National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute grant UM1 HG008900, National Human Genome Research Institute grant R01 HG009141, Victorian Government's Operational Infrastructure Support Program, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-18-IAHU-0001,FOReSIGHT,Enabling Vision Restoration(2018), European Project: 661527,H2020,H2020-MSCA-IF-2014,NMJALS(2015), European Project: 339407,EC:FP7:ERC,ERC-2013-ADG,IMMUNOBIOTA(2014), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Autophagie infection et immunité - Autophagy Infection Immunity (APY), Centre International de Recherche en Infectiologie - UMR (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Génétique et Biologie du Développement, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Embryology and genetics of human malformation (Equipe Inserm U1163), SEGUIN, Nathalie, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, Enabling Vision Restoration - - FOReSIGHT2018 - ANR-18-IAHU-0001 - IAHU - VALID, In vivo analysis of neuromuscular junction stability in zebrafish models of amyotrophic lateral sclerosis - NMJALS - - H20202015-11-16 - 2017-11-15 - 661527 - VALID, Host-microbiota interactions across the gut immune system:lessons from early onset inflammatory bowel diseases and from gnotobiotic mice - IMMUNOBIOTA - - EC:FP7:ERC2014-03-01 - 2019-02-28 - 339407 - VALID, École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (6), pp.1126-1137. ⟨10.1016/j.ajhg.2021.04.020⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (6), pp.1126-1137. ⟨10.1016/j.ajhg.2021.04.020⟩

مصطلحات موضوعية: Male, Connective Tissue Disorder, Loss of Heterozygosity, [SDV.GEN] Life Sciences [q-bio]/Genetics, medicine.disease_cause, IPO8, TGF-β signaling, Pathogenesis, 0302 clinical medicine, Loss of Function Mutation, Transforming Growth Factor beta, connective tissue disorder, Child, Connective Tissue Diseases, Zebrafish, Genetics (clinical), Karyopherin, chemistry.chemical_classification, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Immunity, Cellular, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Middle Aged, beta Karyopherins, Pedigree, arterial dilatation, Cell biology, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Phenotype, medicine.anatomical_structure, Cardiovascular Diseases, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Female, Bone Diseases, Signal Transduction, Adult, Adolescent, Connective tissue, Biology, Importin 8, Young Adult, 03 medical and health sciences, [SDV.IMM.VAC] Life Sciences [q-bio]/Immunology/Vaccinology, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Report, Genetics, medicine, Animals, Humans, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Infant, Immune dysregulation, Loeys-Dietz syndrome, biology.organism_classification, joint hyperlaxity, chemistry, [SDV.IMM.VAC]Life Sciences [q-bio]/Immunology/Vaccinology, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Transforming growth factor

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::015927cc0e12136fe519a9ab8ab24b2d
https://hal.inrae.fr/hal-03318994/document

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المؤلفون: Anup Ramteke, Qingxiang Sun, Ashley Niesman, Michael J. Osborne, Laurent Volpon, Katherine L. B. Borden, Yuh Min Chook, Biljana Culjkovic-Kraljacic

المصدر: Proceedings of the National Academy of Sciences. 113:5263-5268

مصطلحات موضوعية: 0301 basic medicine, Nucleocytoplasmic Transport Proteins, Active Transport, Cell Nucleus, Importin, Biology, Importin 8, 03 medical and health sciences, 0302 clinical medicine, Eukaryotic translation, Tumor Cells, Cultured, medicine, Humans, Initiation factor, Cell Nucleus, Multidisciplinary, Guanosine, EIF4E, Biological Sciences, beta Karyopherins, Leukemia, Myeloid, Acute, Protein Transport, Cell nucleus, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Cancer research, Beta Karyopherins, Nuclear transport

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c569865e6c126f2acccbf1d3d596ae
https://doi.org/10.1073/pnas.1524291113

المؤلفون: Nganou, Gerry

المساهمون: DE NIJS, Laurence, LAKAYE, Bernard

مصطلحات موضوعية: corticogenèse, eIF4E, Importine 8, Importin 8, in utero electroporation, CAE JME, corticogenesis, shRNA, électroporation in utéro, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie

URL الوصول: https://orbi.uliege.be/handle/2268/314937

المؤلفون: Gerry Nganou, Carla G. Silva, Ivan Gladwyn-Ng, Dominique Engel, Bernard Coumans, Antonio V. Delgado-Escueta, Miyabi Tanaka, Laurent Nguyen, Thierry Grisar, Laurence de Nijs, Bernard Lakaye

المساهمون: RS: MHeNs - R3 - Neuroscience, Psychiatrie & Neuropsychologie

المصدر: Frontiers in Molecular Neuroscience, Vol 11 (2018)
Frontiers in molecular neuroscience, 11:234. Frontiers Media S.A.
Frontiers in Molecular Neuroscience

مصطلحات موضوعية: 0301 basic medicine, DEVELOPING NEOCORTEX, BRAIN-DEVELOPMENT, Dendrite, Biology, MULTIPLE STAGES, Importin 8, importin-8, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, CEREBRAL-CORTEX, medicine, NUCLEAR IMPORT, dendritogenesis, Molecular Biology, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Karyopherin, Progenitor, Original Research, chemistry.chemical_classification, Gene knockdown, CORTICAL NEUROGENESIS, radial migration, in utero electroporation, tangential migration, Cell biology, Corticogenesis, 030104 developmental biology, medicine.anatomical_structure, chemistry, NEURONAL MIGRATION, Cerebral cortex, NEWBORN NEURONS, karyopherin, Nuclear transport, STEM-CELLS, Neuroscience, RADIAL GLIA, corticogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c65e7c9d0746ab7ace0da1ec219cddb
https://www.frontiersin.org/article/10.3389/fnmol.2018.00234/full

المؤلفون: Gopal Iyer, Shay Bourgeois, Pari Shah, Eric A. Armstrong, Paul M. Harari, Albert R. Wang, Sean Brennan

المصدر: Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Lung Neoplasms, Biology, Importin 8, Article, 03 medical and health sciences, Carcinoma, Non-Small-Cell Lung, Cell Line, Tumor, Radiation, Ionizing, Pancreatic cancer, Gene expression, medicine, Humans, Ubiquitin C, Gene, Regulation of gene expression, Genes, Essential, Multidisciplinary, Gene Expression Profiling, medicine.disease, Housekeeping gene, Gene Expression Regulation, Neoplastic, Pancreatic Neoplasms, Gene expression profiling, 030104 developmental biology, A549 Cells, Head and Neck Neoplasms, Carcinoma, Squamous Cell, Cancer research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72efbd98159eedaf74019e4123d2afa3
https://doi.org/10.1038/srep43763

المؤلفون: Ke Zen, Dong Wang, Limin Li, Chen-Yu Zhang, Yao Wei

المصدر: Journal of Biological Chemistry. 289:10270-10275

مصطلحات موضوعية: alpha Karyopherins, Active Transport, Cell Nucleus, Importin, Biology, Importin 8, Biochemistry, Cell Line, Mice, microRNA, medicine, Animals, Gene Regulatory Networks, RNA, Small Interfering, Molecular Biology, Cytoskeleton, Karyopherin, Cell Nucleus, chemistry.chemical_classification, Alpha Karyopherins, Cell Biology, Argonaute, Molecular biology, Cell biology, MicroRNAs, Cell nucleus, medicine.anatomical_structure, Microscopy, Fluorescence, chemistry, Argonaute Proteins, Nuclear transport, Protein Binding, Reports

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044d912a6937ccf49a20520650853fe6
https://doi.org/10.1074/jbc.c113.541417

المؤلفون: Alexis Blanchet-Cohen, Katherine L. B. Borden, Biljana Culjkovic-Kraljacic, Hye Seon Sohn, Michael J. Osborne, Laurent Volpon

المصدر: RNA (New York, N.Y.). 23(6)

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Models, Molecular, Eukaryotic Initiation Factor-4E, Amino Acid Motifs, Active Transport, Cell Nucleus, Molecular Conformation, Receptors, Cytoplasmic and Nuclear, Biology, Karyopherins, Importin 8, Models, Biological, RNA Transport, Article, 03 medical and health sciences, XPO1, 0302 clinical medicine, Eukaryotic translation, Animals, Humans, Protein Interaction Domains and Motifs, RNA, Messenger, Nuclear export signal, Molecular Biology, Cell Nucleus, EIF4E, beta Karyopherins, Cell biology, Neoplasm Proteins, 030104 developmental biology, 030220 oncology & carcinogenesis, Nucleic Acid Conformation, Beta Karyopherins, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a62af799dd64568aea89e7f915c7320
https://pubmed.ncbi.nlm.nih.gov/28325843