المؤلفون: de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé‐pichon, Anne‐sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin, M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaëtan, Lynch, Sally-Ann, Mathijssen, Irene M.J., Mcgowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, J., Stegmann, Alexander, P. A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, M., Wéber, Mathys, Gilissen, Christian, Low, Karen, J., Fisher, Simon, E, Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske

المساهمون: Radboud University Nijmegen, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Radboud Institute for Molecular Life Sciences Nijmegen, the Netherlands, Guy's and St Thomas' NHS Foundation Trust, Great Ormond Street Hospital for Children NHS Foundation Trust London, UK (GOSHC), Advocate Hope Children's Hospital, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène - Appui à la recherche (INMG-AR), 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), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), New York University School of Medicine (NYU Grossman School of Medicine), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), St George’s University Hospitals, GeneDx Gaithersburg, MD, USA, FHU TRANSLAD (CHU de Dijon), University of Indianapolis, Erasmus University Medical Center Rotterdam (Erasmus MC), Indiana University School of Medicine, Indiana University System, Oxford University Hospitals NHS Trust, University of Oxford, Vall d’Hebron Research Institute (VHIR), Children's Health Ireland at Temple Street, Queen Elizabeth University Hospital (Glasgow), Radboud University Medical Center Nijmegen, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, University Hospitals Bristol, Department of Human Genetics Nijmegen, Donders Institute for Brain, Cognition and Behaviour, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.orgTest/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.htmlTest for full acknowledgment.

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: ANKRD11, Genotype–phenotype study, KBG syndrome, Missense variants, Neurodevelopmental disorders, MESH: Abnormalities, Multiple, MESH: Bone Diseases, Developmental, MESH: Tooth Abnormalities, MESH: Transcription Factors, MESH: Chromosome Deletion, MESH: Facies, MESH: Humans, MESH: Intellectual Disability, MESH: Mutation, Missense, MESH: Phenotype, MESH: Proteasome Endopeptidase Complex, MESH: Repressor Proteins, [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35833929; hal-03790568; https://univ-rennes.hal.science/hal-03790568Test; https://univ-rennes.hal.science/hal-03790568v2/documentTest; https://univ-rennes.hal.science/hal-03790568v2/file/1-s2.0-S1098360022008164-main.pdfTest; PUBMED: 35833929; WOS: 000879580900007

الإتاحة: https://doi.org/10.1016/j.gim.2022.06.007Test
https://univ-rennes.hal.science/hal-03790568Test
https://univ-rennes.hal.science/hal-03790568v2/documentTest
https://univ-rennes.hal.science/hal-03790568v2/file/1-s2.0-S1098360022008164-main.pdfTest

المؤلفون: Abi Habib, Joanna, De Plaen, Etienne, Stroobant, Vincent, Zivkovic, Dusan, Bousquet, Marie-Pierre, Guillaume, Benoît, Wahni, Khadija, Messens, Joris, Busse, Antonia, Vigneron, Nathalie, Van den Eynde, Benoît

المساهمون: UCL - SSS/DDUV/GECE - Génétique cellulaire

المصدر: Scientific reports, Vol. 10, no. 1, p. 15765 [1-17] (2020)

مصطلحات موضوعية: Cyclin-Dependent Kinase Inhibitor p21, HEK293 Cells, Humans, Oxidation-Reduction, Proteasome Endopeptidase Complex, Proteolysis, Proto-Oncogene Proteins c-myc, Ubiquitination

العلاقة: boreal:245194; http://hdl.handle.net/2078.1/245194Test; info:pmid/32978409; urn:EISSN:2045-2322

الإتاحة: https://doi.org/10.1038/s41598-020-71550-5Test
http://hdl.handle.net/2078.1/245194Test

المؤلفون: Sakai, Wataru, Yuasa-Sunagawa, Mayumi, Kusakabe, Masayuki, Kishimoto, Aiko, Matsui, Takeshi, Kaneko, Yuki, Akagi, Jun-Ichi, Huyghe, Nicolas, Ikura, Masae, Ikura, Tsuyoshi, Hanaoka, Fumio, Yokoi, Masayuki, Sugasawa, Kaoru

المساهمون: UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie

المصدر: Scientific reports, Vol. 10, no.1, p. 19704 [1-15] (2020)

مصطلحات موضوعية: Cell Line, DNA, DNA Damage, DNA Repair, DNA Repair Enzymes, DNA-Binding Proteins, Gene Expression Regulation, Humans, Proteasome Endopeptidase Complex, Proteolysis, Trans-Activators, Ultraviolet Rays

العلاقة: boreal:253901; http://hdl.handle.net/2078.1/253901Test; info:pmid/33184426; urn:EISSN:2045-2322

الإتاحة: https://doi.org/10.1038/s41598-020-76898-2Test
http://hdl.handle.net/2078.1/253901Test

المؤلفون: Seung Un Seo, Seon Min Woo, Seung-Soon Im, Younghoon Jang, Eugene Han, Sang Hyun Kim, Hongchan Lee, Hyun-Shik Lee, Ju-Ock Nam, Edward Gabrielson, Kyoung-jin Min, Taeg Kyu Kwon

المصدر: Cell Death and Disease, Vol 13, Iss 2, Pp 1-13 (2022)

مصطلحات موضوعية: Cancer Research, Proteasome Endopeptidase Complex, QH573-671, Ubiquitin-Protein Ligases, Immunology, bcl-X Protein, Antineoplastic Agents, Apoptosis, Cell Biology, Cathepsin D, Kidney Neoplasms, Cellular and Molecular Neuroscience, Proto-Oncogene Proteins c-bcl-2, Cell Line, Tumor, Humans, Cytology, Carcinoma, Renal Cell

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af3cd5575b8fe15f91cc0466fb1c2f34Test
https://doaj.org/article/7b38673b8e814d76a1ecfc3f03ada1f7Test

المؤلفون: Santos, M, Morais, S, Pereira, C, Sequeiros, J, Alonso, I

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Codon, Nonsense, HEK293 Cells, Humans, Loss of Function Mutation, Microscopy, Fluorescence, Mitochondria / metabolism, Parkinsonian Disorders / epidemiology, Parkinsonian Disorders / genetics, Portugal / epidemiology, Proteasome Endopeptidase Complex / metabolism, Protein Aggregation, Pathological, Protein Domains, Protein Folding, Protein Processing, Post-Translational, Protein Stability, Protein Transport, Recombinant Proteins / metabolism, Solubility, Spain / epidemiology, Subcellular Fractions / metabolism, Ubiquitin-Protein Ligases / genetics, Ubiquitin-Protein Ligases / metabolism, Ubiquitination

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F87189%2F2012/PT; info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F90048%2F2012/PT; Scientific Reports, vol.9(1):16150; https://www.nature.com/articles/s41598-019-52534-6Test; https://hdl.handle.net/10216/139009Test

الإتاحة: https://doi.org/10.1038/s41598-019-52534-6Test
https://hdl.handle.net/10216/139009Test

المؤلفون: Xiuying Li, Tiao Li, Seyed Mehdi Nouraie, Janet S. Lee, Kong Chen, Georgios D Kitsios, Rama K. Mallampalli, Bryan J. McVerry, Yingze Zhang, Yandong Lai, Chunbin Zou, Toru Nyunoya

المصدر: Cell Death and Disease, Vol 12, Iss 9, Pp 1-11 (2021)
Cell Death & Disease

مصطلحات موضوعية: Cancer Research, ARDS, Proteasome Endopeptidase Complex, Protein-Arginine N-Methyltransferases, CARM1, Arginine, Immunology, Acute Lung Injury, Lung injury, Models, Biological, Article, Cell Line, Ligases, Cellular and Molecular Neuroscience, Mice, Enzyme Stability, medicine, Animals, Humans, Phosphorylation, Lung, Caspase, biology, Cell Death, QH573-671, business.industry, Caspase 3, Ubiquitin, F-Box Proteins, Lysine, Ubiquitination, Epithelial Cells, Cell Biology, medicine.disease, Ubiquitin ligase, Chromatin, Cell biology, Endotoxins, Enzyme Activation, medicine.anatomical_structure, Ubiquitin ligases, Proteolysis, biology.protein, Epigenetics, business, Infection, Cytology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c74b63ab97a68f52d58b263683295da8Test
https://doaj.org/article/6734af0981a74758a2e91851ecf9b059Test

المؤلفون: Weijun Liu, Weiyang Cai, Ying-Li Wu, Wenfu Tan, Jun Yang, Yu Zou, Yuan Liu, Qingqing Ding, Wenjing Huang, Yu Zhang, Juan Wang, Jing Gao, Hu Zhou, Zhang Yanjie, Pei hao Yin, Yanyan Qiu

المصدر: Cell Death and Disease, Vol 12, Iss 7, Pp 1-10 (2021)
Cell Death & Disease

مصطلحات موضوعية: Male, 0301 basic medicine, Proteasome Endopeptidase Complex, Cancer Research, Genes, APC, Molecular biology, Colorectal cancer, Immunology, Mice, Transgenic, Zinc Finger Protein Gli2, Article, Dinoprostone, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Ubiquitin, Cell Line, Tumor, GLI2, medicine, Animals, Humans, Phosphorylation, Prostaglandin E2, Hedgehog, Cell Proliferation, biology, QH573-671, Protein Stability, Kinase, business.industry, JNK Mitogen-Activated Protein Kinases, Ubiquitination, Nuclear Proteins, Cell Biology, medicine.disease, In vitro, Enzyme Activation, 030104 developmental biology, 030220 oncology & carcinogenesis, Proteolysis, biology.protein, Cancer research, Colorectal Neoplasms, business, Cytology, Cell signalling, Signal Transduction, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf2685815fd743fc99af1f60bc03414Test
https://doaj.org/article/2fea908ab4b14db48c38eb876533e9c1Test

المؤلفون: Juan Kong, Min Lu, Qingxing Wang, Haitao Yang, Zhengyuan Wang, Yao Zhao, Leike Zhang, Lu Feng, Chao Peng, Yang-Fei Xing

المصدر: Signal Transduction and Targeted Therapy, Vol 6, Iss 1, Pp 1-4 (2021)

مصطلحات موضوعية: Cancer Research, 2019-20 coronavirus outbreak, Caspase inhibitors, Coronavirus disease 2019 (COVID-19), Chemistry, QH301-705.5, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Virology, Mice transgenic, Proteasome, Genetics, Medicine, Proteasome endopeptidase complex, Biology (General)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d2423001834f92019f83218dd6a1b13Test
https://doaj.org/article/7b95e3b7734a4a3f9fae1b6bff4090e9Test

المؤلفون: Wen-Quan Chen, Ling Mao, Jun-Chen Hou, Jian Zhang, He-da Zhang, Jinhai Tang, Di Xu, Qian Zhang, Wen-Xiu Xu, Sujin Yang, Fengliang Wang, Jian Li, Dan-Dan Wang, Shanliang Zhong

المصدر: Cell Death and Disease, Vol 12, Iss 5, Pp 1-20 (2021)
Cell Death & Disease

مصطلحات موضوعية: Cancer microenvironment, Cancer Research, Proteasome Endopeptidase Complex, Stromal cell, Carcinogenesis, Immunology, Triple Negative Breast Neoplasms, Biology, medicine.disease_cause, Exosomes, Article, Metastasis, Cellular and Molecular Neuroscience, Cyclin D1, Breast cancer, Cell Movement, microRNA, medicine, Tumor Microenvironment, Humans, Neoplasm Metastasis, Triple-negative breast cancer, beta Catenin, QH573-671, Cell Biology, RNA, Circular, medicine.disease, Microvesicles, MicroRNAs, Catenin, Cancer research, Cytology, Proto-Oncogene Proteins c-akt

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9d3758a31396ae4d80c0d6253fc2e72Test
https://doaj.org/article/4781505495c140888ddacff015aff895Test

المؤلفون: Kyoung-Mi Lee, Jin Woo Lee, Dawoon Baek, Kwang Hwan Park, Sujin Jung, Jihyun Kim, Soyeong Joung

المصدر: Cell Death and Disease, Vol 12, Iss 3, Pp 1-15 (2021)
Cell Death & Disease

مصطلحات موضوعية: Adult, Male, Cancer Research, Cell signaling, Proteasome Endopeptidase Complex, Bone Regeneration, Immunology, Genetic Vectors, Bone Marrow Cells, Mesenchymal Stem Cell Transplantation, Article, Deubiquitinating enzyme, Cellular and Molecular Neuroscience, Ubiquitin, Osteogenesis, Animals, Humans, lcsh:QH573-671, Bone regeneration, Wnt Signaling Pathway, Cells, Cultured, beta Catenin, Gene knockdown, Mice, Inbred ICR, biology, Chemistry, lcsh:Cytology, F-Box Proteins, Tumor Suppressor Proteins, Mesenchymal stem cell, Skull, Wnt signaling pathway, Ubiquitination, Mesenchymal Stem Cells, Cell Biology, Dependovirus, Cell biology, DKK1, Case-Control Studies, Proteolysis, biology.protein, Intercellular Signaling Peptides and Proteins, Osteoporosis, Ubiquitin-Specific Proteases, Cell signalling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17a8bfa82d85edafb790fad4734b7fb3Test
https://doaj.org/article/8a58d6f2809e470d9d9687d51a9328c3Test