المؤلفون: Rjiba, Khouloud, Mougou-Zerelli, Soumaya, Hamida, Imen Hadj, Saad, Ghada, Khadija, Bochra, Jelloul, Afef, Slimani, Wafa, Hasni, Yosra, Dimassi, Sarra, Khelifa, Hela Ben, Sallem, Amira, Kammoun, Molka, Abdallah, Hamza Hadj, Gribaa, Moez, Bignon-Topalovic, Joelle, Chelly, Sami, Khairi, Hédi, Bibi, Mohamed, Kacem, Maha, Saad, Ali, Bashamboo, Anu, Mcelreavey, Kenneth

المساهمون: Centre Hospitalo-Universitaire Farhat Hached, Université de Monastir - University of Monastir (UM), Université de Sousse, Génétique du Développement humain - Human developmental genetics, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), CHU Fattouma Bourguiba Monastir (HFB), This work is funded in part by a research grant from the European Society of Pediatric Endocrinology, a scholarship from the Tunisian government, and by the Agence Nationale de la Recherche (ANR), ANR-10-LABX-73 REVIVE, ANR-17-CE14-0038–01, ANR-19-CE14-0022, ANR-20-CE14-0007 and ANR-19-CE14-0012., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), ANR-17-CE14-0038,MGonDev,Etude des mécanismes du développement des gonades chez l'homme(2017), ANR-19-CE14-0022,SexDiff,Régulation de la détermination du sexe et de la différenciation ovarienne : implications dans les troubles du développement sexuel(2019), ANR-20-CE14-0007,Goldilocks,Analyse intégrée du rôle du facteur de transcription SF-1 / NR5A1 et de ses gènes cibles dépendants du dosage dans la fonction gonadique et les troubles du développement sexuel (DSD)(2020), ANR-19-CE14-0012,RNA-SEX,Fonction de l'ARN hélicase dans la détermination du sexe chez les vertébrés et les troubles du développement du sexe chez l'homme (DSD)(2019)

المصدر: ISSN: 1477-7827 ; Reproductive Biology and Endocrinology ; https://hal.science/hal-04150358Test ; Reproductive Biology and Endocrinology, 2023, 21 (1), pp.2. ⟨10.1186/s12958-022-01045-7⟩.

مصطلحات موضوعية: XY DSD, Cytogenetic abnormalities, Disorders of sex development (DSD), Whole exome sequencing(WES), MESH: Female, MESH: Humans, MESH: Membrane Proteins, MESH: Mutation, MESH: Phenotype, MESH: Sex Differentiation, MESH: Sexual Development, MESH: SOXE Transcription Factors, MESH: Testis, MESH: Ubiquitin-Protein Ligases, MESH: Male, MESH: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, MESH: Acyltransferases, MESH: Gonadal Dysgenesis, 46,XY, [SDV]Life Sciences [q-bio]

الوقت: 46

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36631813; hal-04150358; https://hal.science/hal-04150358Test; https://hal.science/hal-04150358/documentTest; https://hal.science/hal-04150358/file/s12958-022-01045-7.pdfTest; PUBMED: 36631813; PUBMEDCENTRAL: PMC9990451

الإتاحة: https://doi.org/10.1186/s12958-022-01045-7Test
https://hal.science/hal-04150358Test
https://hal.science/hal-04150358/documentTest
https://hal.science/hal-04150358/file/s12958-022-01045-7.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: 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: Shard, Chloé, Luna-Escalante, Juan, Schweisguth, François

المساهمون: Génétique du Développement de la Drosophile, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Biophysique et Neuroscience Théoriques, Laboratoire de physique de l'ENS - ENS Paris (LPENS), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Département de Physique de l'ENS-PSL, École normale supérieure - Paris (ENS-PSL), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Département de Physique de l'ENS-PSL, Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL), This work was funded by the Agence Nationale de la Recherche (ANR-10-LABX-0073) and Fondation pour la Recherche Médicale (FRM-DEQ20180339219)., We thank Y. Bellaïche, A. Brand, Y. Cai, L. Cheng, D. Glover, Y. Hong, Y. N. Jan, M. Krahn, F. Matsuzaki, A. Salzberg, M. Sato, J. Skeath, M. Suzanne, A. Wodarz, the Developmental Studies Hybridoma Bank, Flybase, and Image Analysis Hub of the Institut Pasteur for reagents and resources. We thank S. Herbert (Image Analysis Hub), R. Levayer, J.-Y. Tinevez (Image Analysis Hub), T. Schweisguth, and L. Valon for help in segmentation, local z-projection, and image data analysis, M. Rujano for help in live imaging, and L. Couturier for technical help. We thank S. Chanet, E. Contreras, A. Hakes, and G. Perez-Mockus for critical reading., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010)

المصدر: ISSN: 0021-9525.

مصطلحات موضوعية: MESH: Animals, MESH: Cell Polarity, MESH: Drosophila Proteins, MESH: Drosophila melanogaster, MESH: Epithelium, MESH: Morphogenesis, MESH: Neural Stem Cells, MESH: Neurons, MESH: Optic Lobe, Nonmammalian, MESH: Ubiquitin-Protein Ligases, [SDV.BDD]Life Sciences [q-bio]/Development Biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32946560; pasteur-03258555; https://pasteur.hal.science/pasteur-03258555Test; https://pasteur.hal.science/pasteur-03258555/documentTest; https://pasteur.hal.science/pasteur-03258555/file/jcb_202005035.pdfTest; PUBMED: 32946560; PUBMEDCENTRAL: PMC7594497

الإتاحة: https://doi.org/10.1083/jcb.202005035Test
https://pasteur.hal.science/pasteur-03258555Test
https://pasteur.hal.science/pasteur-03258555/documentTest
https://pasteur.hal.science/pasteur-03258555/file/jcb_202005035.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: Lethier, Mathilde, Huard, Karine, Hons, Michael, Favier, Adrien, Brutscher, Bernhard, Boeri Erba, Elisabetta, Abbott, Derek, Cusack, Stephen, Pellegrini, Erika

المساهمون: European Molecular Biology Laboratory Grenoble (EMBL), Institut de biologie structurale (IBS - UMR 5075), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), 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)-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 Grenoble Alpes (UGA), Case Western Reserve University Cleveland, IR INFRANALYTICS FR2054 CNRS, platforms of the Grenoble Instruct-ERIC Center, Grenoble Partnership for Structural Biology (PSB), ANR-17-EURE-0003,CBH-EUR-GS,CBH-EUR-GS(2017), ANR-10-INBS-0005,FRISBI,Infrastructure Française pour la Biologie Structurale Intégrée(2010)

المصدر: ISSN: 2575-1077 ; Life Science Alliance ; https://hal.science/hal-04246053Test ; Life Science Alliance, 2023, 6 (11), pp.e202201784. ⟨10.26508/lsa.202201784⟩.

مصطلحات موضوعية: MESH: Ubiquitin-Protein Ligases, MESH: Cryoelectron Microscopy, MESH: Phosphorylation, MESH: Ubiquitination, MESH: Biological Assay, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37673444; hal-04246053; https://hal.science/hal-04246053Test; PUBMED: 37673444; PUBMEDCENTRAL: PMC10485824

الإتاحة: https://doi.org/10.26508/lsa.202201784Test
https://hal.science/hal-04246053Test

المؤلفون: Holt, Richard, J, Young, Rodrigo, M, Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia, J, Bellacchio, Emanuele, Bax, Dorine, A, Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina, R, van Binsbergen, Ellen, de Luca, Alessandro, Memo, Luigi, Dobyns, William, B, Mohammed, Alaa Afif, Clokie, Samuel, J H, Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina, P, Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce, D, Wilson, Stephen, W, Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola, K

المساهمون: Oxford Brookes University, University College of London London (UCL), Great Ormond Street Institute of Child Health (UCL), University of California San Francisco (UC San Francisco), University of California (UC), IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, University Medical Center Utrecht, Odense University Hospital (OUH), Fondazione Casa Sollievo della Sofferenza San Giovanni Rotondo, Italy (FC2S), Ospedale San Martino di Belluno Italy (ULSS 1 Dolomites), University of Washington Seattle, West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Cairo University - Faculty of Medicine, Université de Toulouse (UT), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Duke University Durham, Duke University Medical Center, Ambry Genetics Aliso Viejo, CA, USA, Kennedy Krieger Institute Baltimore, AstraZeneca Cambridge, UK, University of Melbourne, Birmingham Women's and Children's NHS Foundation Trust, Icahn School of Medicine at Mount Sinai New York (MSSM), Université Toulouse III Paul Sabatier - Faculté de médecine Purpan (UTPS), Université de Toulouse (UT)-Université de Toulouse (UT), This work was supported by grants from Baillie Gifford, Visually Impaired Children Taking Action (VICTA) (www.victa.org.uk), Microphthalmia, Anophthalmia and Coloboma Support (MACS) (www.macs.org.uk), HEIF (Health Innovation Fund, Oxford Brookes University), La Fondation de France (grant number 2015-00060235, 2015), Fondation Maladies Rares and Retina France, Fondazione Bambino Gesu` (Vite Coraggiose), E-Rare (NSEuroNet), AIRC (the Italian Foundation for Cancer Research) (IG 21614), the Italian Ministry of Health (Ricerca Corrente), and the National Heart, Lung, and Blood Institute (R35HL135742). French patients are part of the Rare Disease Cohort (RaDiCo)-AC-Oeil. RaDiCo is funded by the French National Research Agency under the specific program ‘‘Investments for the Future,’’ cohort grant agreement ANR-10-COHO-0003. V.S. and J.S. were supported by UCB Celltech and the Duke Genome Sequencing Clinic grant. W.B.D. was supported by the US National Institutes of Health under the National Institute of Neurological Disorders and Stroke (NINDS) grant R01NS058721. R.M.Y. and S.W.W. were supported by an MRC (Medical Research Council) Programme Grant (MR/L003775/1 to S.W.W. and G. Gestri) and a Wellcome Trust Investigator Award (104682/Z/14/Z). The human embryonic and fetal material was provided by the Joint MRC/Wellcome Trust (grant MR/R006237/1) Human Developmental Biology Resource (www.hdbr.org)., ANR-10-COHO-0003,RADICO,Cohorte nationale maladies rares(2010)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: FBXW11, Noonan syndrome, WD40, Wnt, brain, development, digit, eye, hedgehog, neurodevelopment, MESH: Adolescent, MESH: Adult, MESH: Mutation, Missense, MESH: Phenotype, MESH: Ubiquitin-Protein Ligases, MESH: beta-Transducin Repeat-Containing Proteins, MESH: Brain, MESH: Child, Preschool, MESH: Eye Abnormalities, MESH: Female, MESH: Fingers, MESH: Humans, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31402090; inserm-04379659; https://inserm.hal.science/inserm-04379659Test; https://inserm.hal.science/inserm-04379659/documentTest; https://inserm.hal.science/inserm-04379659/file/1-s2.0-S000292971930268X-main.pdfTest; PUBMED: 31402090; PUBMEDCENTRAL: PMC6731360

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.07.005Test
https://inserm.hal.science/inserm-04379659Test
https://inserm.hal.science/inserm-04379659/documentTest
https://inserm.hal.science/inserm-04379659/file/1-s2.0-S000292971930268X-main.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: 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