المؤلفون: Romero-Barrios, Natali, Monachello, Dario, Dolde, Ulla, Wong, Aloysius, San Clemente, Hélène, Cayrel, Anne, Johnson, Alexander, Lurin, Claire, Vert, Grégory

المساهمون: Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Institut des Sciences des Plantes de Paris-Saclay (IPS2 (UMR_9213 / UMR_1403)), Université d'Évry-Val-d'Essonne (UEVE)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Laboratoire de Recherche en Sciences Végétales (LRSV), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Signalisation Cellulaire et Ubiquitination, Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Marie Curie Action (grant PCIG-GA-2012-334021 to G.V.), ANR-13-JSV2-0004,Ubi63,Exploration du role de la polyubiquitination K63 en utilisant les plantes comme modèle(2013), ANR-10-LABX-0041,TULIP,Towards a Unified theory of biotic Interactions: the roLe of environmental(2010), ANR-11-IDEX-0002,UNITI,Université Fédérale de Toulouse(2011), ANR-10-LABX-0040,SPS,Saclay Plant Sciences(2010)

المصدر: ISSN: 1040-4651.

مصطلحات موضوعية: MESH: Arabidopsis / metabolism, MESH: Arabidopsis Proteins, MESH: Ubiquitin-Protein Ligases / genetics, MESH: Ubiquitination, MESH: Cataloging, MESH: Genomics, MESH: Lysine / metabolism, MESH: Plant Cells / metabolism, MESH: Polyubiquitin / metabolism, MESH: Proteomics, MESH: Ubiquitin / metabolism, MESH: Ubiquitin-Conjugating Enzymes / metabolism, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31712406; hal-02367570; https://hal.science/hal-02367570Test; https://hal.science/hal-02367570/documentTest; https://hal.science/hal-02367570/file/TPC2019-LSB-00568R1_Vert_00568-JL%20GV2.pdfTest; PUBMED: 31712406; PUBMEDCENTRAL: PMC6961633; WOS: 000508875100013

الإتاحة: https://doi.org/10.1105/tpc.19.00568Test
https://hal.science/hal-02367570Test
https://hal.science/hal-02367570/documentTest
https://hal.science/hal-02367570/file/TPC2019-LSB-00568R1_Vert_00568-JL%20GV2.pdfTest

المؤلفون: Florian, Rahel, Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario, Vijfhuizen, Lisanne, Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp, Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Alexandre, Mathieu, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Leguern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark, Bahlo, Melanie, Gecz, Jozef, Corbett, Mark, Tijssen, Marina, van den Maagdenberg, Arn, Depienne, Christel

المساهمون: Institute of Human Genetics - Institut für Humangenetik Essen, Universitätsklinikum Essen Universität Duisburg-Essen (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen Universität Duisburg-Essen (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen Essen, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Amsterdam Neuroscience Pays-Bas, Vrije Universiteit Amsterdam Amsterdam (VU)-University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-VU University Medical Center Amsterdam, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne Cologne (CMMC), University Hospital of Cologne Cologne, Cologne Center for Genomics Cologne (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-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), Institut de Biologie François JACOB (JACOB), 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), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, Centre de référence des épilepsies rares CHRU Strasbourg (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie Strasbourg, Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Nouvel Hôpital Civil de Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), School of Biological Sciences Adelaïde, University of Adelaide, Goethe University Frankfurt, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital Berlin, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), South Australian Health and Medical Research Institute Adelaide (SAHMRI), University Medical Center Groningen Groningen (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the “Investissements d’Avenir” programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: Neurodegenerative diseases, Neurological disorders, Epilepsy, Genomic instability, MESH: Adolescent, MESH: Adult, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Young Adult, MESH: Aged, MESH: Chromosome Mapping, MESH: DNA Repeat Expansion, MESH: Epilepsies, Myoclonic/genetics, MESH: Female, MESH: Humans, MESH: Introns, MESH: Male, MESH: Membrane Proteins/genetics, MESH: Middle Aged, MESH: Pedigree, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31664039; pasteur-02562487; https://pasteur.hal.science/pasteur-02562487Test; https://pasteur.hal.science/pasteur-02562487/documentTest; https://pasteur.hal.science/pasteur-02562487/file/Unstable%20TTTTATTTCA%20expansions%20in%20MARCH6%20are%20associated.pdfTest; PUBMED: 31664039; PUBMEDCENTRAL: PMC6820781

الإتاحة: https://doi.org/10.1038/s41467-019-12763-9Test
https://pasteur.hal.science/pasteur-02562487Test
https://pasteur.hal.science/pasteur-02562487/documentTest
https://pasteur.hal.science/pasteur-02562487/file/Unstable%20TTTTATTTCA%20expansions%20in%20MARCH6%20are%20associated.pdfTest

المؤلفون: Chen, Huimei, Moreno-Moral, Aida, Pesce, Francesco, Devapragash, Nithya, Mancini, Massimiliano, Heng, Ee Ling, Rotival, Maxime, Srivastava, Prashant, K, Harmston, Nathan, Shkura, Kirill, Rackham, Owen, J L, Yu, Wei-Ping, Sun, Xi-Ming, Gui Zhen Tee, Nicole, Li San Tan, Elisabeth, Barton, Paul, J R, Felkin, Leanne, E, Lara-Pezzi, Enrique, Angelini, Gianni, Beltrami, Cristina, Pravenec, Michal, Schafer, Sebastian, Bottolo, Leonardo, Hubner, Norbert, Emanueli, Costanza, Cook, Stuart, Petretto, Enrico

المساهمون: Cardiovascular and Metabolic Disorders Singapor (cvmd), Duke-NUS Medical School Singapore, Università degli studi di Bari Aldo Moro = University of Bari Aldo Moro (UNIBA), Ospedale San Giovanni di Dio, Firenze, National Heart and Lung Institute London (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Faculty of Medicine London, UK, Imperial College London, Agency for science, technology and research Singapore (A*STAR), Institute of Molecular and Cell Biology, National University of Singapore (NUS)-Agency for science, technology and research Singapore (A*STAR), MRC London Institute of Medical Sciences (LMC), National Heart Centre Singapore (NHCS), Royal Brompton and Harefield NHS Foundation Trust, Cardiovascular Research Centre London, Centro Nacional de Investigaciones Cardiovasculares Carlos III Madrid, Spain (CNIC), Instituto de Salud Carlos III Madrid (ISC), University of Bristol Bristol, Institute of Physiology Prague, Czech Academy of Sciences Prague (CAS), University of Cambridge UK (CAM), The Alan Turing Institute, MRC Biostatistics Unit Cambridge, UK, Max Delbrück Center for Molecular Medicine Berlin (MDC), Helmholtz-Gemeinschaft = Helmholtz Association, German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), Charité - UniversitätsMedizin = Charité - University Hospital Berlin, The research was primarily supported by National Medical Research Council (NMRC) Singapore grant NMRC/CBRG/0106/2016 (to E.P.) and the British Heart Foundation (BHF) Ph.D. Studentship grant FS/11/25/28740 (to E.P). We acknowledge additional funding support from European Union FP7 CardioNeT-ITN-289600 (to E.L.-P., S.A.C., and P.J.R.B.), Heart Research UK (to P.J.R.B.), NIHR CV BRU of Royal Brompton and Harefield, NHS Foundation Trust (to S.A.C. and P.J.R.B.), BHF (to S.A.C.), Leducq Foundation (to S.A.C.), MRC UK (to S.A.C.), BHF Program Grant no. RG/15/5/31446 (to C.E. and E.P.). M.P. was supported by Praemium Academiae award of the Czech Academy of Sciences and grant 14-36804G from the Czech Science Foundation., We wish to thank Dr. Jacques Behmoaras for contributing critical and constructive comments to the manuscript., European Project: 289600,EC:FP7:PEOPLE,FP7-PEOPLE-2011-ITN,CARDIONET(2012)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: Ubiquitin ligases, Cardiomyopathies, MESH: Adolescent, MESH: Adult, MESH: Fibrosis / genetics, MESH: Fibrosis / metabolism, MESH: Mice, Transgenic, MESH: Gene Regulatory Networks, MESH: Genetic Predisposition to Disease* / genetics, MESH: Heart Diseases / genetics, MESH: Heart Diseases / metabolism, MESH: Humans, MESH: Male, MESH: Ubiquitin-Protein Ligases / metabolism, MESH: Middle Aged, MESH: Aged, MESH: Protein Isoforms, MESH: Smad2 Protein / genetics, MESH: Smad2 Protein / metabolism, MESH: Transforming Growth Factor beta / metabolism, MESH: Ubiquitin-Protein Ligases / genetics, MESH: Young Adult, MESH: Gene Expression Regulation, MESH: Animals, MESH: Cardiomyopathies / genetics, MESH: Cardiomyopathies / metabolism, MESH: Extracellular Matrix Proteins / metabolism, MESH: Female, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31399586; info:eu-repo/grantAgreement/EC/FP7/289600/EU/Translational Training network on the Cellular and Molecular Bases of Heart Homeostasis and Repair/CARDIONET; pasteur-02868982; https://pasteur.hal.science/pasteur-02868982Test; https://pasteur.hal.science/pasteur-02868982/documentTest; https://pasteur.hal.science/pasteur-02868982/file/Chen_Nature%20Communication_2019.pdfTest; PUBMED: 31399586; PUBMEDCENTRAL: PMC6689010

الإتاحة: https://doi.org/10.1038/s41467-019-11551-9Test
https://pasteur.hal.science/pasteur-02868982Test
https://pasteur.hal.science/pasteur-02868982/documentTest
https://pasteur.hal.science/pasteur-02868982/file/Chen_Nature%20Communication_2019.pdfTest

المؤلفون: Zakaria, Chadi, Sean, Polen, Hoang, Huy-Dung, Leroux, Louis-Phillipe, Watson, Margaret, Workenhe, Samuel Tekeste, Hearnden, Jaclyn, Pearl, Dana, Truong, Vinh Tai, Robichaud, Nathaniel, Yanagiya, Akiko, Tahmasebi, Soroush, Jafarnejad, Seyed Mehdi, Jia, Jian-Jun, Pelin, Adrian, Diallo, Jean-Simon, Le Boeuf, Fabrice, Bell, John Cameron, Mossman, Karen Louise, Graber, Tyson Ernst, Jaramillo, Maritza, Sonenberg, Nahum, Alain, Tommy

المساهمون: McGill University = Université McGill Montréal, Canada, University of Ottawa Ottawa, Institut Armand Frappier (INRS-IAF), Institut National de la Recherche Scientifique Québec (INRS)-Réseau International des Instituts Pasteur (RIIP), McMaster University Hamilton, Ontario, Ottawa Hospital Research Institute Ottawa (OHRI), This research was funded by grants from the Terry Fox Research Institute to NS and TA, and the CHEO Foundation, the Cancer Research Society / Stephen E. Drabin Research Fund, the Brain Tumour Foundation of Canada, and the Canadian Breast Cancer Foundation to TA. The funders had no role in study design, data collection and analysis, Decision to publish, or preparation of the manuscript, We thank Isabelle Harvey and Lynn Kyte for technical assistance, Xu Zhang and Sebastian Morales for help with experiments, and William Muller (McGill) for the mouse mammary epithelial cells.

المصدر: ISSN: 1553-7366.

مصطلحات موضوعية: MESH: Adaptator Proteins, Signal Transducing/genetics, Signal Transducing/metabolism, MESH: Mice, MESH: Neoplasms/complications, MESH: Animals, MESH: Neoplasms/genetics, MESH: Neoplasms/pathology, MESH: Neoplasms/virology, MESH: Organisms, Genetically Modified, MESH: Phosphoproteins/genetics, MESH: Phosphoproteins/metabolims, MESH: Protein Kinase Inhibitors/pharmacology, MESH: Herpes Simplex/complications, MESH: Signal Transduction/genetics, MESH: TOR Serine-Threonine Kinases/antagonists & inhibitiors, MESH: TOR Serine-Threonine Kinases/chemistry, MESH: Catalytic Domain/drug effects, MESH: Ubiquitin-Protein Ligases/deficiency, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Vero Cells, MESH: Cells, Cultured, MESH: Cercopithecus aethiops, MESH: Eukaryotic Initiation Factor-4E/genetics, MESH: Herpes Simplex/genetics, MESH: Eukaryotic Initiation Factor-4E/metabolism, MESH: Gene Expression Regulation, Neoplastic/drug effects

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30138450; pasteur-02136237; https://riip.hal.science/pasteur-02136237Test; https://riip.hal.science/pasteur-02136237/documentTest; https://riip.hal.science/pasteur-02136237/file/Active_site_mTOR_inhibitors_augment_HSV1_dICP0_infection_in_a_cancer_cells.pdfTest; PUBMED: 30138450; PUBMEDCENTRAL: PMC6124814

الإتاحة: https://doi.org/10.1371/journal.ppat.1007264Test
https://riip.hal.science/pasteur-02136237Test
https://riip.hal.science/pasteur-02136237/documentTest
https://riip.hal.science/pasteur-02136237/file/Active_site_mTOR_inhibitors_augment_HSV1_dICP0_infection_in_a_cancer_cells.pdfTest

المؤلفون: Harris, Abigail, Siggers, Pam, Corrochano, Silvia, Warr, Nick, Sagar, Danielle, Grimes, Daniel, Suzuki, Makoto, Burdine, Rebecca, Cong, Feng, Koo, Bon-Kyoung, Clevers, Hans, Stévant, Isabelle, Nef, Serge, Wells, Sara, Brauner, Raja, Ben Rhouma, Bochra, Belguith, Neïla, Eozenou, Caroline, Bignon-Topalovic, Joelle, Bashamboo, Anu, Mcelreavey, Ken, Greenfield, Andy

المساهمون: Medical Research Coucil Harwell Oxford, UK (MRC Harwell), MRC Harwell, Department of Molecular Biology Princeton, Princeton University, Novartis Institutes for BioMedical Research (NIBR), Hubrecht Institute Utrecht, Netherlands, University Medical Center Utrecht (UMCU)-Royal Netherlands Academy of Arts and Sciences (KNAW), Université de Genève = University of Geneva (UNIGE), Fondation Ophtalmologique Adolphe de Rothschild Paris, Université Paris Descartes - Paris 5 (UPD5), Faculté de médecine - Faculty of Medicine Sfax, Tunisie (FMS), Université de Sfax - University of Sfax, Génétique du Développement humain - Human developmental genetics, Institut Pasteur Paris (IP), This work was supported by the Medical Research Council by core funding Grant MC_U142684167 (to A.G.) at the Harwell Institute, and the Agence Nationale de la Recherche Grant ANR-10-LABX-73 (to K.M.). S.N. acknowledges support from Swiss National Science Foundation Grant 31003A_173070. M.S. was a visiting scientist supported by the Strategic International Research Exchange Program between Princeton University and National Institutes of Natural Sciences, Japan. D.T.G. was supported by National Institute of Arthritis and Mucoskeletal and Skin Diseases Pathway to Independence Award 1K99AR070905. Work in the R.D.B. laboratory is supported by the National Institute of Child Health and Development Grant 2R01HD048584., We thank the husbandry team in Ward 5 of the Mary Lyon Centre at Harwell and the Frozen Embryo and Sperm Archive (FESA) and histology teams. We thank Dagmar Wilhelm for the kind gift of anti-FOXL2 antibody. We thank Phil Johnson for zebrafish husbandry. We acknowledge European Cooperation in Science & Technology (COST) Action BM1303 (DSDnet)., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010)

المصدر: ISSN: 0027-8424.

مصطلحات موضوعية: sex determination, organogenesis, DSD, WNT signaling, ZNRF3, MESH: Adolescent, MESH: Adult, MESH: Female, MESH: Gene Expression Regulation, Developmental, MESH: Wnt Proteins / antagonists & inhibitors, MESH: Humans, MESH: Male, MESH: Mice, MESH: Testis / metabolism, MESH: Mutation, Missense, MESH: SOX9 Transcription Factor / genetics, MESH: SOX9 Transcription Factor / metabolism, MESH: beta Catenin / genetics, MESH: Animals, MESH: Testis / pathology, MESH: Thrombospondins / genetics, MESH: Wnt Proteins / genetics, MESH: Thrombospondins / metabolism, MESH: Ubiquitin-Protein Ligases / genetics, MESH: Ubiquitin-Protein Ligases / physiology, MESH: Gonads / metabolism, MESH: Wnt Proteins / metabolism, MESH: Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29735715; pasteur-02872465; https://pasteur.hal.science/pasteur-02872465Test; https://pasteur.hal.science/pasteur-02872465/documentTest; https://pasteur.hal.science/pasteur-02872465/file/ZNRF3%20functions%20in%20mammalian%20sex%20determination%20by%20inhibiting%20canonical.pdfTest; PUBMED: 29735715; PUBMEDCENTRAL: PMC6003506

الإتاحة: https://doi.org/10.1073/pnas.1801223115Test
https://pasteur.hal.science/pasteur-02872465Test
https://pasteur.hal.science/pasteur-02872465/documentTest
https://pasteur.hal.science/pasteur-02872465/file/ZNRF3%20functions%20in%20mammalian%20sex%20determination%20by%20inhibiting%20canonical.pdfTest

المؤلفون: Andrio, Emilie, Lotte, Romain, Hamaoui, Daniel, Cherfils, Jacqueline, Doye, Anne, Daugaard, Mads, Sørensen, Poul, Bost, Frédéric, Ruimy, Raymond, Mettouchi, Amel, Lemichez, Emmanuel

المساهمون: Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UniCA), Toxines bactériennes dans la relation hôtes-pathogènes, Université Nice Sophia Antipolis (1965 - 2019) (UNS)-IFR50-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UniCA), Laboratoire de Bactériologie CHU Nice, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital Archet 2 Nice (CHU), Laboratoire de Biologie et de Pharmacologie Appliquée (LBPA), École normale supérieure - Cachan (ENS Cachan)-Centre National de la Recherche Scientifique (CNRS), University of British Columbia (UBC), Vancouver Prostate Centre Vancouver General Hospital (VPC), Vancouver General Hospital, BC Cancer Agency Research Centre (BCCRC), Signalisation moléculaire et obésité, Université Nice Sophia Antipolis (1965 - 2019) (UNS)-IFR50-Institut National de la Santé et de la Recherche Médicale (INSERM), This work was supported by INSERM, CNRS and fundings from the Ligue Nationale Contre le Cancer (LNCC, équipe labellisée), Association pour la Recherche sur le Cancer (ARC-SFI20111203659 & ARC-SFI20111203671), a fellowship LNCC to D.H., a PhD fellowship from the “Fondation pour la Recherche Médicale” (FRM-FDM20150632804) to R.L., We are grateful to Melissa Sivaneson, Frédéric Reinier and Patrick Munro for technical help and fruitful discussions. We thank Orane Visvikis for critical reading of the manuscript.

المصدر: ISSN: 2045-2322.

مصطلحات موضوعية: Proteolysis, Cell biology, MESH: Amino Acid Sequence, MESH: Cell Line, MESH: Models, Molecular, MESH: Mutant Proteins/chemistry, MESH: Mutation, Missense/genetics, MESH: Neoplasms/genetics, MESH: Protein Binding, MESH: Protein Domains, MESH: Structure-Activity Relationship, MESH: Ubiquitin-Protein Ligases/chemistry, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Ubiquitin-Protein Ligases/metabolism, MESH: Ubiquitination, MESH: rac1 GTP-Binding Protein/metabolism, MESH: Cell Proliferation, MESH: Humans, [SDV]Life Sciences [q-bio], [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28317937; pasteur-02448600; https://pasteur.hal.science/pasteur-02448600Test; https://pasteur.hal.science/pasteur-02448600/documentTest; https://pasteur.hal.science/pasteur-02448600/file/Identification_of_cancer_associated_missense_mutations.pdfTest; PUBMED: 28317937; PUBMEDCENTRAL: PMC5357957

الإتاحة: https://doi.org/10.1038/srep44779Test
https://pasteur.hal.science/pasteur-02448600Test
https://pasteur.hal.science/pasteur-02448600/documentTest
https://pasteur.hal.science/pasteur-02448600/file/Identification_of_cancer_associated_missense_mutations.pdfTest

المؤلفون: Aloysius Wong, Grégory Vert, Dario Monachello, Alexander W. Johnson, Natali Romero-Barrios, Ulla Dolde, Anne Cayrel, Claire Lurin, Hélène San Clemente

المساهمون: Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Institut des Sciences des Plantes de Paris-Saclay (IPS2 (UMR_9213 / UMR_1403)), Université d'Évry-Val-d'Essonne (UEVE)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université d'Évry-Val-d'Essonne (UEVE)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Laboratoire de Recherche en Sciences Végétales (LRSV), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Signalisation Cellulaire et Ubiquitination, Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Marie Curie Action (grant PCIG-GA-2012-334021 to G.V.), ANR-13-JSV2-0004,Ubi63,Exploration du role de la polyubiquitination K63 en utilisant les plantes comme modèle(2013), ANR-10-LABX-0041,TULIP,Towards a Unified theory of biotic Interactions: the roLe of environmental(2010), ANR-11-IDEX-0002,UNITI,Université Fédérale de Toulouse(2011), ANR-10-LABX-0040,SPS,Saclay Plant Sciences(2010), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3)

المصدر: The Plant cell
The Plant cell, American Society of Plant Biologists (ASPB), 2020, 32 (1), pp.123-138. ⟨10.1105/tpc.19.00568⟩
The Plant cell, 2020, ⟨10.1105/tpc.19.00568⟩
The Plant cell, American Society of Plant Biologists (ASPB), 2020, ⟨10.1105/tpc.19.00568⟩

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, MESH: Lysine / metabolism, Plant growth, [SDV]Life Sciences [q-bio], Lysine, MESH: Ubiquitin / metabolism, MESH: Ubiquitin-Conjugating Enzymes / metabolism, Plant Science, Computational biology, macromolecular substances, MESH: Arabidopsis Proteins, Proteomics, 01 natural sciences, Interactome, 03 medical and health sciences, MESH: Cataloging, Ubiquitin, Arabidopsis, MESH: Polyubiquitin / metabolism, Arabidopsis thaliana, MESH: Plant Cells / metabolism, MESH: Ubiquitin-Protein Ligases / genetics, ComputingMilieux_MISCELLANEOUS, MESH: Arabidopsis / metabolism, MESH: Proteomics, biology, MESH: Genomics, Cell Biology, Plant cell, biology.organism_classification, 030104 developmental biology, biology.protein, MESH: Ubiquitination, 010606 plant biology & botany

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac75b82a257c4c1c72c75d675680bdbTest
https://hal.inrae.fr/hal-03347890Test

المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.

المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C., Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne [Cologne] (CMMC), University Hospital of Cologne [Cologne], Cologne Center for Genomics [Cologne] (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-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), Institut de Biologie François JACOB (JACOB), 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), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden, Centre de référence des épilepsies rares [CHRU Strasbourg] (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, School of Biological Sciences [Adelaïde], University of Adelaide, Goethe-University Frankfurt am Main, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), University Medical Center Groningen [Groningen] (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the 'Investissements d’Avenir' programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-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)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine (CNRGH), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), RWTH Aachen University, Universität Duisburg-Essen [Essen], 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)-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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Philipps University of Marburg, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D.M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A.J. Tijssen, Arn M.J.M. van den Maagdenberg, Christel Depienne, Francesca Bisulli, Laura Licchetta, Paolo Tinuper, MATHIEU, Alexandre, 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)-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), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

المصدر: Nature Communications
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9

مصطلحات موضوعية: Male, MESH: Introns, [SDV]Life Sciences [q-bio], Medizin, MESH: DNA Repeat Expansion, Epilepsies, Myoclonic, [SDV.GEN] Life Sciences [q-bio]/Genetics, MARCH6, expansion, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Aged, MESH: Middle Aged, DNA Repeat Expansion, Neurodegenerative diseases, MESH: Epilepsies, Myoclonic, Chromosome Mapping, Middle Aged, MESH: Epilepsies, Myoclonic/genetics, Pedigree, MESH: Young Adult, Female, ddc:500, MESH: Membrane Proteins, Technology Platforms, Genomic instability, Adult, Adolescent, MESH: Pedigree, Ubiquitin-Protein Ligases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Familial Adult Myoclonic Epilepsy type 3, Article, Young Adult, Humans, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Epilepsy, Membrane Proteins, MESH: Adult, MESH: Membrane Proteins/genetics, MESH: Ubiquitin-Protein Ligases, MESH: Male, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosome Mapping, MESH: Female, Neurological disorders

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ec2c892a3045ae0244d68ba44823587aTest
http://edoc.mdc-berlin.de/20584/2/20584suppl.zipTest

المؤلفون: Silvia Corrochano, Abigail Harris, Hans Clevers, Caroline Eozenou, Isabelle Stévant, Joelle Bignon-Topalovic, Nick Warr, Neila Belguith, Sara Wells, Bochra Ben Rhouma, Pam Siggers, Serge Nef, Daniel T. Grimes, Ken McElreavey, Rebecca D. Burdine, Feng Cong, Makoto Suzuki, Andy Greenfield, Danielle Sagar, Anu Bashamboo, Bon-Kyoung Koo, Raja Brauner

المساهمون: Medical Research Coucil Harwell [Oxford, UK] (MRC Harwell), MRC Harwell, Department of Molecular Biology [Princeton], Princeton University, Novartis Institutes for BioMedical Research (NIBR), Hubrecht Institute [Utrecht, Netherlands], University Medical Center [Utrecht]-Royal Netherlands Academy of Arts and Sciences (KNAW), Université de Genève = University of Geneva (UNIGE), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Université Paris Descartes - Paris 5 (UPD5), Faculté de médecine - Faculty of Medicine [Sfax, Tunisie] (FMS), Université de Sfax - University of Sfax, Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP), This work was supported by the Medical Research Council by core funding Grant MC_U142684167 (to A.G.) at the Harwell Institute, and the Agence Nationale de la Recherche Grant ANR-10-LABX-73 (to K.M.). S.N. acknowledges support from Swiss National Science Foundation Grant 31003A_173070. M.S. was a visiting scientist supported by the Strategic International Research Exchange Program between Princeton University and National Institutes of Natural Sciences, Japan. D.T.G. was supported by National Institute of Arthritis and Mucoskeletal and Skin Diseases Pathway to Independence Award 1K99AR070905. Work in the R.D.B. laboratory is supported by the National Institute of Child Health and Development Grant 2R01HD048584., We thank the husbandry team in Ward 5 of the Mary Lyon Centre at Harwell and the Frozen Embryo and Sperm Archive (FESA) and histology teams. We thank Dagmar Wilhelm for the kind gift of anti-FOXL2 antibody. We thank Phil Johnson for zebrafish husbandry. We acknowledge European Cooperation in Science & Technology (COST) Action BM1303 (DSDnet)., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), Université de Genève (UNIGE), Génétique du développement humain, Institut Pasteur [Paris], Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: Proceedings of the National Academy of Sciences, Vol. 115, No 21 (2018) pp. 5474-5479
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, 2018, 115 (21), pp.5474-5479. ⟨10.1073/pnas.1801223115⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2018, 115 (21), pp.5474-5479. ⟨10.1073/pnas.1801223115⟩
Proceedings of the National Academy of Sciences of the United States of America, 115(21), 5474
Proceedings of the National Academy of Sciences of the United States of America, 115(21), 5474-5479. National Academy of Sciences

مصطلحات موضوعية: 0301 basic medicine, Male, Embryo, Nonmammalian, Sex Differentiation, Organogenesis, Wnt Proteins/antagonists & inhibitors, Disorders of Sex Development, DSD, MESH: Wnt Proteins / metabolism, MESH: Testis / metabolism, MESH: Disorders of Sex Development / genetics, MESH: Testis / pathology, MESH: Embryo, Nonmammalian / cytology, Mice, Embryo, Nonmammalian/cytology, MESH: Gene Expression Regulation, Developmental, Testis, Missense mutation, MESH: Animals, ddc:576.5, Developmental, Disorders of sex development, 10. No inequality, MESH: Ubiquitin-Protein Ligases / genetics, Exome sequencing, Cells, Cultured, beta Catenin, Zebrafish, Multidisciplinary, Cultured, MESH: Thrombospondins / genetics, MESH: SOX9 Transcription Factor / metabolism, Wnt signaling pathway, Gene Expression Regulation, Developmental, SOX9 Transcription Factor, beta Catenin/antagonists & inhibitors, MESH: beta Catenin / metabolism, Sex reversal, MESH: Gonads / pathology, Cell biology, MESH: Young Adult, Embryo, MESH: Gonads / metabolism, Female, MESH: Cells, Cultured, Adult, Adolescent, Ubiquitin-Protein Ligases, Cells, Thrombospondins/genetics, Mutation, Missense, MESH: beta Catenin / antagonists & inhibitors, SOX9, Biology, Gonads/metabolism, MESH: Embryo, Nonmammalian / metabolism, 03 medical and health sciences, Young Adult, MESH: Wnt Proteins / genetics, WNT signaling, medicine, Animals, Humans, Ubiquitin-Protein Ligases/genetics, MESH: SOX9 Transcription Factor / genetics, MESH: Zebrafish, RSPO1, Gonads, General, MESH: Mice, Nonmammalian/cytology, MESH: Disorders of Sex Development / pathology, MESH: Adolescent, MESH: Wnt Proteins / antagonists & inhibitors, MESH: Mutation, Missense, MESH: Humans, MESH: beta Catenin / genetics, ZNRF3, MESH: Adult, Sex determination, medicine.disease, MESH: Male, MESH: Ubiquitin-Protein Ligases / physiology, SOX9 Transcription Factor/genetics, Wnt Proteins, 030104 developmental biology, MESH: Thrombospondins / metabolism, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Gene Expression Regulation, Mutation, Testis/metabolism, Missense, Thrombospondins, MESH: Female, Function (biology), Disorders of Sex Development/genetics, MESH: Sex Differentiation

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f785b7c346bbb98027161ca7382405e7Test
https://hdl.handle.net/20.500.11755/a85a814a-a5a7-4064-9ca8-516f15a8bb58Test

المؤلفون: Cristina Beltrami, Owen J. L. Rackham, Costanza Emanueli, Nithya Devapragash, Wei-Ping Yu, Xi-Ming Sun, Stuart A. Cook, Norbert Hubner, Francesco Pesce, Ee Ling Heng, Elisabeth Tan, Aida Moreno-Moral, Enrique Lara-Pezzi, Gianni D Angelini, Enrico Petretto, Huimei Chen, Paul J.R. Barton, Nathan Harmston, Michal Pravenec, Sebastian Schafer, Maxime Rotival, Nicole Tee, Massimilano Mancini, Leanne E. Felkin, Leonardo Bottolo, Prashant K. Srivastava, Kirill Shkura

المساهمون: Cardiovascular and Metabolic Disorders [Singapor] (cvmd), Duke-NUS Medical School [Singapore], Università degli studi di Bari Aldo Moro = University of Bari Aldo Moro (UNIBA), Ospedale San Giovanni di Dio, Firenze, National Heart and Lung Institute [London] (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Faculty of Medicine [London, UK], Imperial College London, Agency for science, technology and research [Singapore] (A*STAR), Institute of Molecular and Cell Biology, National University of Singapore (NUS)-Agency for science, technology and research [Singapore] (A*STAR), MRC London Institute of Medical Sciences (LMC), National Heart Centre Singapore (NHCS), Royal Brompton and Harefield NHS Foundation Trust, Cardiovascular Research Centre [London], Centro Nacional de Investigaciones Cardiovasculares Carlos III [Madrid, Spain] (CNIC), Instituto de Salud Carlos III [Madrid] (ISC), University of Bristol [Bristol], Institute of Physiology [Prague], Czech Academy of Sciences [Prague] (CAS), University of Cambridge [UK] (CAM), The Alan Turing Institute, MRC Biostatistics Unit [Cambridge, UK], Max Delbrück Center for Molecular Medicine [Berlin] (MDC), Helmholtz-Gemeinschaft = Helmholtz Association, German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], The research was primarily supported by National Medical Research Council (NMRC) Singapore grant NMRC/CBRG/0106/2016 (to E.P.) and the British Heart Foundation (BHF) Ph.D. Studentship grant FS/11/25/28740 (to E.P). We acknowledge additional funding support from European Union FP7 CardioNeT-ITN-289600 (to E.L.-P., S.A.C., and P.J.R.B.), Heart Research UK (to P.J.R.B.), NIHR CV BRU of Royal Brompton and Harefield, NHS Foundation Trust (to S.A.C. and P.J.R.B.), BHF (to S.A.C.), Leducq Foundation (to S.A.C.), MRC UK (to S.A.C.), BHF Program Grant no. RG/15/5/31446 (to C.E. and E.P.). M.P. was supported by Praemium Academiae award of the Czech Academy of Sciences and grant 14-36804G from the Czech Science Foundation., We wish to thank Dr. Jacques Behmoaras for contributing critical and constructive comments to the manuscript., European Project: 289600,EC:FP7:PEOPLE,FP7-PEOPLE-2011-ITN,CARDIONET(2012), Moreno-Moral, Aida [0000-0002-8155-3146], Barton, Paul J. R. [0000-0002-1165-7767], Schafer, Sebastian [0000-0002-6909-8275], Bottolo, Leonardo [0000-0002-6381-2327], Cook, Stuart A. [0000-0001-6628-194X], Petretto, Enrico [0000-0003-2163-5921], Apollo - University of Cambridge Repository, National Medical Research Council (Singapur), British Heart Foundation, Unión Europea. Comisión Europea, National Institutes of Health (Estados Unidos), Czech Science Foundation, Fondation Leducq, NHS Foundation Trusth, University of Bari Aldo Moro (UNIBA), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Leducq Foundation for Cardiovascular Research, Commission of the European Communities, Heart Research UK, Medical Research Council (MRC), Barton, Paul JR [0000-0002-1165-7767], Cook, Stuart A [0000-0001-6628-194X]

المصدر: Nature Communications
Nature Communications, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Chen, H, Moreno-Moral, A, Pesce, F, Devapragash, N, Mancini, M, Heng, E L, Rotival, M, Srivastava, P K, Harmston, N, Shkura, K, Rackham, O J L, Yu, W P, Sun, X M, Tee, N G Z, Tan, E L S, Barton, P J R, Felkin, L E, Lara-Pezzi, E, Angelini, G, Beltrami, C, Pravenec, M, Schafer, S, Bottolo, L, Hubner, N, Emanueli, C, Cook, S A & Petretto, E 2019, ' WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signalling ', Nature Communications, vol. 10, 3616 . https://doi.org/10.1038/s41467-019-11551-9Test
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.3616. ⟨10.1038/s41467-019-11551-9⟩
Repisalud
Instituto de Salud Carlos III (ISCIII)

مصطلحات موضوعية: Male, 45/43, BLOOD-PRESSURE, 02 engineering and technology, MESH: Protein Isoforms, MESH: Heart Diseases / genetics, Mice, Transforming Growth Factor beta, 42/44, Fibrosis, Protein Isoforms, Medicine, MESH: Animals, lcsh:Science, MESH: Ubiquitin-Protein Ligases / genetics, MESH: Fibrosis / metabolism, MESH: Genetic Predisposition to Disease* / genetics, GENE-EXPRESSION, Regulation of gene expression, Extracellular Matrix Proteins, MESH: Middle Aged, MESH: Fibrosis / genetics, TGF-BETA, MESH: Heart Diseases / metabolism, MESH: Ubiquitin-Protein Ligases / metabolism, 3. Good health, Cell biology, Ubiquitin ligase, FIBROBLAST, MESH: Young Adult, Science & Technology - Other Topics, 64/60, Cardiomyopathies, 0210 nano-technology, Cardiac function curve, Science, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, REVEALS, Humans, Aged, MESH: Adolescent, Science & Technology, MESH: Humans, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], IDENTIFICATION, MESH: Smad2 Protein / metabolism, MESH: Extracellular Matrix Proteins / metabolism, MESH: Adult, MESH: Cardiomyopathies / metabolism, medicine.disease, 030104 developmental biology, Cardiovascular and Metabolic Diseases, E3 UBIQUITIN LIGASE, RAT, DETERMINANT, lcsh:Q, Myocardial fibrosis, MESH: Female, 0301 basic medicine, Cardiac fibrosis, General Physics and Astronomy, Smad2 Protein, Gene Regulatory Networks, 13/89, MESH: Aged, MESH: Transforming Growth Factor beta / metabolism, Multidisciplinary, biology, MESH: Smad2 Protein / genetics, article, Middle Aged, MESH: Cardiomyopathies / genetics, 021001 nanoscience & nanotechnology, 692/4019/592/75/74, MESH: Gene Expression Regulation, Multidisciplinary Sciences, Centre for Surgical Research, HEART-FAILURE, Female, 38/39, Adult, Adolescent, Heart Diseases, MESH: Mice, Transgenic, Ubiquitin-Protein Ligases, Mice, Transgenic, 14/32, 82/80, Young Adult, Animals, Genetic Predisposition to Disease, 14/35, MESH: Mice, Pressure overload, business.industry, General Chemistry, MESH: Male, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Ubiquitin ligases, Heart failure, 13/51, biology.protein, 631/45/474/2073, MESH: Gene Regulatory Networks, business

وصف الملف: application/pdf; text; application/zip; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b9a8eae768aaa77cac0482318b75243Test
https://doi.org/10.1038/s41467-019-11551-9Test