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المؤلفون: Vasileios Kargas, Mélanie Parisot, Norberto Escudero-Urquijo, Alexis Bertrand, Christine Bellanné-Chantelot, Jean Donadieu, Mohammed Zarhrate, Patrick Nitschke, Cécile Masson, Laëtitia Kermasson, Beatriz Goyenechea, Sophie Kaltenbach, Alan J. Warren, David Traynor, Stefano Fumagalli, Li Jin, Blandine Beaupain, Bruno Reversade, Ahmed Z. Boukerrou, Peter J. Bond, M. Rossmann, Olivier Alibeu, Jean-Alain Martignoles, Christine Bole-Feysot, Jonathan Moreil, Shengjiang Tan, François Delhommeau, Patrick Revy, Kong Boo Phua, Alexandre Faille, Aurore Pouliet, Christine Hilcenko, Frédéric Tores, Isabelle Radford-Weiss, Ai Ling Koh, Isabelle Callebaut, Jean-Pierre de Villartay
المساهمون: Cambridge Institute for Medical Research (CIMR), University of Cambridge [UK] (CAM), Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), MRC Laboratory of Molecular Biology [Cambridge, UK] (LMB), University of Cambridge [UK] (CAM)-Medical Research Council, Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [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), KK Women's and Children's Hospital [Singapore], Genome Institute of Singapore (GIS), Bioinformatics Institute [Singapore], Agency for science, technology and research [Singapore] (A*STAR), National University of Singapore (NUS), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU), Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Muséum national d'Histoire naturelle (MNHN)-Institut de recherche pour le développement [IRD] : UR206-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Babraham Research Campus [Cambridge, Royaume-Uni], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Sorbonne Paris Cité (USPC), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ACS - Heart failure & arrhythmias, ARD - Amsterdam Reproduction and Development, Escudero-Urquijo, Norberto [0000-0002-8201-5884], Parisot, Mélanie [0000-0003-4312-2035], Reversade, Bruno [0000-0002-4070-7997], Bond, Peter J. [0000-0003-2900-098X], Bellanné-Chantelot, Christine [0000-0001-8415-6771], Warren, Alan J. [0000-0001-9277-4553], Revy, Patrick [0000-0003-0758-8022], Apollo - University of Cambridge Repository, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Hilcenko, Christine [0000-0002-9596-7833], Rossmann, Maxim [0000-0001-8811-3277], Bond, Peter J [0000-0003-2900-098X], Warren, Alan [0000-0001-9277-4553], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), HAL-SU, Gestionnaire, ANR-18-IDEX-0001,Université de Paris,Université de Paris(2018), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Warren, Alan J [0000-0001-9277-4553]
المصدر: Nature Communications
Nature Communications, Nature Publishing Group, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature Communications, 2021, 12 (1), ⟨10.1038/s41467-021-24999-5⟩
Nature communications, 12(1):5044. Nature Publishing Group
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)مصطلحات موضوعية: Somatic cell, [SDV]Life Sciences [q-bio], General Physics and Astronomy, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Germline, 631/208/737, 692/699/1541, Ribosome assembly, 13/1, 0302 clinical medicine, hemic and lymphatic diseases, 38/22, Dictyostelium, Eukaryotic Initiation Factors, Child, Cells, Cultured, Biological Phenomena, Genetics, 0303 health sciences, Multidisciplinary, 631/208/514/2254, article, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Ribosome Subunits, Large, Eukaryotic, Ribosome, Shwachman-Diamond Syndrome, 3. Good health, [SDV] Life Sciences [q-bio], 64/24, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, 030220 oncology & carcinogenesis, Child, Preschool, Drosophila, Haematological diseases, Protein Binding, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Science, 45/23, Saccharomyces cerevisiae, Biology, Molecular Dynamics Simulation, General Biochemistry, Genetics and Molecular Biology, 82/80, 03 medical and health sciences, Young Adult, Germline mutation, Animals, Humans, Gene, Ribonucleoprotein, U5 Small Nuclear, 030304 developmental biology, Sequence Homology, Amino Acid, Eukaryotic Large Ribosomal Subunit, Point mutation, Infant, Proteins, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, General Chemistry, SBDS, 96/44, Peptide Elongation Factors, Germ Cells, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Protein Biosynthesis, Mutation, Next-generation sequencing, 631/337/574/1789, Ribosomes
وصف الملف: application/pdf; application/zip; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a0a029184f8fcc8469d2a5ac081086Test
https://hal.archives-ouvertes.fr/hal-03366072Test -
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المؤلفون: Abdul Waheed Khan, Giovanni Micheloni, Elissa Furutani, Annalisa Frattini, Giovanni Porta, Kasiani C. Myers, Marco Cipolli, Pamela Roccia, Antonella Minelli, Roberto Valli, Simone Cesaro, Cesare Danesino, Francesco Pasquali, Alyssa L. Kennedy, Akiko Shimamura, Francesco Acquati
المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)مصطلحات موضوعية: Pathology, medicine.medical_specialty, Isochromosome, QH426-470, Biology, Bone marrow rescue, Biochemistry, Chromosome anomalies, Karyotype instability, Shwachman-Diamond syndrome, Genetics, medicine, Molecular Biology, Genetics (clinical), Chromosome 7 (human), Shwachman–Diamond syndrome, Research, Biochemistry (medical), Cytogenetics, Karyotype, SBDS, medicine.disease, Chromosome 3, Molecular Medicine, Chromosome 20
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f2b3a068d18908217560057418fc2eTest
https://doi.org/10.1186/s13039-021-00575-wTest -
93دورية أكاديمية
المؤلفون: In, Kyungmin, Zaini, Mohamad A, Müller, Christine, Warren, Alan J, von Lindern, Marieke, Calkhoven, Cornelis F
المصدر: In , K , Zaini , M A , Müller , C , Warren , A J , von Lindern , M & Calkhoven , C F 2016 , ' Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs ' , Nucleic Acids Research , vol. 44 , no. 9 , pp. 4134-4146 . https://doi.org/10.1093/nar/gkw005Test
مصطلحات موضوعية: CONTROL REPORTER SYSTEM, ACUTE MYELOID-LEUKEMIA, HEMATOPOIETIC STEM, C-MYC, RIBOSOMAL-SUBUNIT, MITOTIC SPINDLE, EIF6 RELEASE, GENE SBDS, BINDING, CELLS
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1093/nar/gkw005Test
https://hdl.handle.net/11370/a5087de3-7a06-4cae-b8bb-4d769ee03a18Test
https://research.rug.nl/en/publications/a5087de3-7a06-4cae-b8bb-4d769ee03a18Test
https://pure.rug.nl/ws/files/39768948/Shwachman_Bodian_Diamond_syndrome_SBDS_protein_deficiency_impairs_translation_re_initiation_from_C_EBP_and_C_EBP_mRNA.pdfTest -
94
المؤلفون: Hai-Yin Zou, You-Tian Yang, Wen-jun Liu, Chen Yang, Yunmao Huang, Yunbo Tian, Shi-jian Chen
المصدر: Virus Genes. 56:600-609
مصطلحات موضوعية: China, Dwarfism, Genome, Viral, Genome, Parvoviridae Infections, 03 medical and health sciences, Parvovirinae, Virology, Genetics, medicine, Animals, Molecular Biology, Phylogeny, Poultry Diseases, 030304 developmental biology, Recombination, Genetic, 0303 health sciences, Attenuated vaccine, Phylogenetic tree, biology, 030306 microbiology, Parvovirus, Outbreak, General Medicine, SBDS, biology.organism_classification, medicine.disease, Ducks, Capsid, Capsid Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3073f63d7c0e63b45ef95f5080e2c0f1Test
https://doi.org/10.1007/s11262-020-01781-1Test -
95
المؤلفون: Hao Yu, Gong Zhao, Yi-Lei Zhao, Wenyue Hu, Guang Liu, Jianhua Gan, Zixin Deng, Xinyi He, Yuli Wang, Geng Wu, Jiayi Li
المصدر: Nucleic Acids Research
مصطلحات موضوعية: AcademicSubjects/SCI00010, Stereochemistry, chemistry.chemical_element, Sequence (biology), Biology, Crystallography, X-Ray, 01 natural sciences, 03 medical and health sciences, chemistry.chemical_compound, Endonuclease, Protein Domains, Structural Biology, 0103 physical sciences, Escherichia coli, Genetics, Amino Acid Sequence, 030304 developmental biology, 0303 health sciences, 010304 chemical physics, Hydrogen bond, Hydrogen Bonding, DNA, DNA Restriction Enzymes, SBDS, Sulfur, Streptomyces, DNA-Binding Proteins, Restriction enzyme, Order (biology), chemistry, biology.protein, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c360d1d99dce4e127ab56b8aa5a69083Test
https://doi.org/10.1093/nar/gkaa574Test -
96
المؤلفون: Toshiki Takenouchi, Isamu Kamimaki, Masako Ikemiyagi, Hisato Suzuki, Tomoko Uehara, Ayano Inui, Mamiko Yamada, Kenjiro Kosaki
المصدر: American Journal of Medical Genetics Part A. 182:1631-1636
مصطلحات موضوعية: Male, Genetics, Gene Expression Profiling, Pseudogene, Infant, Newborn, Infant, Proteins, Locus (genetics), SBDS, Biology, Compound heterozygosity, Shwachman-Diamond Syndrome, Transcriptome, Gene Frequency, Exome Sequencing, Humans, Female, RNA, Messenger, Gene conversion, Allele, Exome, Pseudogenes, Genetics (clinical), DNA Primers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d4dd82c7588d44b833031fb3d6551b8Test
https://doi.org/10.1002/ajmg.a.61598Test -
97
المؤلفون: Fatma Dedeoglu, Towia A. Libermann, Kasiani C. Myers, David Andorsky, Amy E. Geddis, Akiko Shimamura, Yu Zhou, Ankoor S. Shah, Yongdong Zhao, Elissa Furutani
المصدر: American Journal of Medical Genetics Part A. 182:1754-1760
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Shwachman–Diamond syndrome, business.industry, Chronic recurrent multifocal osteomyelitis, Bone marrow failure, Arthritis, 030105 genetics & heredity, SBDS, medicine.disease, Gastroenterology, Scleroderma, 03 medical and health sciences, Leukemia, 030104 developmental biology, Internal medicine, Genetics, medicine, Endocrine system, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aad1277dec230f7aaecf3c085b36d9d3Test
https://doi.org/10.1002/ajmg.a.61593Test -
98
المؤلفون: Hubert Hondermarck, Frank Alvaro, Zacary P. Germon, Heather C. Murray, Dominik Beck, Abdul Mannan, Charles E. de Bock, Stephen M. Butler, David A. Skerrett-Byrne, Hayley Flanagan, Matthew D. Dun, Patrick Connerty, Geoff De Iuliis, Jonathan C. Morris, Mengna Chi, Juhura G. Almazi, Hamish D. Toop, Brett Nixon, Ryan J. Duchatel, Sam Faulkner, Janis Chamberlain, Anoop K Enjeti, Callum J Rigby, Richard G. S. Kahl, Jonathan R. Sillar, Nicole M. Verrills
المصدر: Leukemia
مصطلحات موضوعية: Cancer Research, Letter, Myeloid, Apoptosis, Acute myeloid leukaemia, medicine, Humans, Protein Phosphatase 2, Bone Marrow Diseases, Shwachman–Diamond syndrome, business.industry, Proteins, Oncogenes, Hematology, Protein phosphatase 2, SBDS, medicine.disease, Molecular biology, Shwachman-Diamond Syndrome, Leukemia, Myeloid, Acute, Leukemia, medicine.anatomical_structure, Oncology, Proteins metabolism, Myeloid leukaemia, business, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecf25e7996c11ee55b060a0fd5704258Test
https://doi.org/10.1038/s41375-020-0814-0Test -
99
المؤلفون: Zhao-Shen Li, Hongyu Fu, Jiefang Guo, Yuxin Wang, Yuanhang Dong, Peng Wang, Yiqi Du
المصدر: Surgical Endoscopy. 35:576-583
مصطلحات موضوعية: Adult, Male, Enteroscopy, medicine.medical_specialty, Gastrointestinal bleeding, Abdominal pain, Adolescent, medicine.medical_treatment, Single Center, Gastroenterology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Double-balloon enteroscopy, Internal medicine, Intestine, Small, Humans, Medicine, Prospective Studies, Child, Aged, Retrospective Studies, Aged, 80 and over, Double-Balloon Enteroscopy, medicine.diagnostic_test, business.industry, Middle Aged, SBDS, medicine.disease, Polypectomy, Endoscopy, Intestinal Diseases, Treatment Outcome, 030220 oncology & carcinogenesis, Female, 030211 gastroenterology & hepatology, Surgery, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd7e1386548494cae9de04fa9e8afbTest
https://doi.org/10.1007/s00464-020-07418-6Test -
100
المؤلفون: S. Kumar, M. V. Kumar, S. Krishnaveni
المصدر: Semiconductors. 54:169-175
مصطلحات موضوعية: 010302 applied physics, Materials science, Fabrication, Equivalent series resistance, business.industry, Schottky barrier, Schottky diode, 02 engineering and technology, Substrate (electronics), SBDS, 021001 nanoscience & nanotechnology, Condensed Matter Physics, 01 natural sciences, Atomic and Molecular Physics, and Optics, Electronic, Optical and Magnetic Materials, 0103 physical sciences, Optoelectronics, 0210 nano-technology, business, Voltage, Diode
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f12061bf2a29a690010a8c21720dfc8dTest
https://doi.org/10.1134/s1063782620020141Test