يعرض 1 - 10 نتائج من 91 نتيجة بحث عن '"SBDS"', وقت الاستعلام: 0.70s تنقيح النتائج
  1. 1
    Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

    المؤلفون: Laura Peretto, Elena Tonetto, Iva Maestri, Valentino Bezzerri, Roberto Valli, Marco Cipolli, Mirko Pinotti, Dario Balestra

    المصدر: International Journal of Molecular Sciences
    Volume 24
    Issue 4
    Pages: 4024

    مصطلحات موضوعية: trans-splicing, PTM, Organic Chemistry, General Medicine, U1snRNA, base editor, Catalysis, Computer Science Applications, Inorganic Chemistry, SBDS, Shwachman–Diamond syndrome, genome editing, prime editor, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9332e1e3c41a3d1012e149a9d943af73Test


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  2. 2
    Evolutionary and functional relationships in the ribosome biogenesis SBDS and EFL1 protein families

    المؤلفون: Daniel García-Montalvo, Alfonso Méndez-Godoy, León P. Martínez-Castilla, Nuria Sánchez-Puig

    المصدر: Molecular Genetics and Genomics. 296:1263-1278

    مصطلحات موضوعية: Genetics, Protein family, Eukaryotic Large Ribosomal Subunit, Alternative splicing, Ribosome biogenesis, Translation (biology), General Medicine, Ribosomal RNA, Biology, SBDS, Molecular Biology, Ribosome

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::48541bf4fad636f5689226b5580ba3ceTest
    https://doi.org/10.1007/s00438-021-01814-wTest


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  3. 3
    The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

    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


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  4. 4
    Identification of recombination in novel goose parvovirus isolated from domesticated Jing-Xi partridge ducks in South China

    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


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  5. 5
    Shwachman–Bodian–Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia

    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


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  6. 6
    Altered Conformational Landscape upon Sensing Guanine Nucleotides in a Disease Mutant of Elongation Factor-like 1 (EFL1) GTPase

    المؤلفون: Jesús Pérez-Juárez, Juana Virginia Tapia-Vieyra, Gabriel Gutiérrez-Magdaleno, Nuria Sánchez-Puig

    المصدر: Biomolecules; Volume 12; Issue 8; Pages: 1141

    مصطلحات موضوعية: Peptide Elongation Factor 1, conformational change, EFL1, guanine nucleotides, ITC, magnesium ions, SBDS, SDS, Humans, Proteins, Saccharomyces cerevisiae, Ribosome Subunits, Large, Eukaryotic, Molecular Biology, Biochemistry, Guanine Nucleotides, GTP Phosphohydrolases

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32f3eee89901db7d78958201425ba16aTest
    https://doi.org/10.3390/biom12081141Test


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  7. 7
    Loss of Sbds in zebrafish leads to neutropenia and pancreas and liver atrophy

    المؤلفون: Eliezer Calo, Usua Oyarbide, Arish N Shah, Margaret J. Kell, Wilmer Amaya-Mejia, Matthew Snyderman, Daniela S. Allende, Jacek Topczewski, Seth J. Corey

    المصدر: JCI Insight
    JCI Insight, Vol 5, Iss 17 (2020)

    مصطلحات موضوعية: 0301 basic medicine, Cyclin-Dependent Kinase Inhibitor p21, Neutropenia, Cyclin G1, Mutant, Apoptosis, Biology, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Downregulation and upregulation, Polysome, Proto-Oncogene Proteins, medicine, Animals, Zebrafish, Pancreas, P53, Gastroenterology, Nuclear Proteins, Proto-Oncogene Proteins c-mdm2, General Medicine, Hematology, SBDS, Zebrafish Proteins, Zymogen granule, biology.organism_classification, medicine.disease, Molecular biology, Shwachman-Diamond Syndrome, 030104 developmental biology, Liver, 030220 oncology & carcinogenesis, Embryonic development, Medicine, Tumor Suppressor Protein p53, Apoptosis Regulatory Proteins, Ribosomes, Research Article, Genetic diseases

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe7f0641c0f7f9be7aecb6b77095a45aTest
    http://europepmc.org/articles/PMC7526460Test


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  8. 8
    Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics

    المؤلفون: Michele Saviano, Pietro Delre, Abril Gijsbers, Giuseppe Felice Mangiatordi, Orazio Nicolotti, Nuria Sánchez-Puig, Dritan Siliqi, Domenico Alberga

    المساهمون: RS: M4I - Nanoscopy, Institute of Nanoscopy (IoN)

    المصدر: Journal of Biomolecular Structure & Dynamics, 38(17), 5219-5229. Adenine Press
    Journal of biomolecular structure & dynamics 37 (2019): 5219. doi:10.1080/07391102.2019.1704883
    info:cnr-pdr/source/autori:Delre, Pietro; Alberga, Domenico; Gijsbers, Abril; Sanchez-Puig, Nuria; Nicolotti, Orazio; Saviano, Michele; Siliqi, Dritan; Mangiatordi, Giuseppe Felice/titolo:Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics/doi:10.1080%2F07391102.2019.1704883/rivista:Journal of biomolecular structure & dynamics/anno:2019/pagina_da:5219/pagina_a:/intervallo_pagine:5219/volume:37

    مصطلحات موضوعية: 030303 biophysics, Mutant, GTPase, Molecular Dynamics Simulation, DIAGNOSIS, Ribosome assembly, 03 medical and health sciences, Peptide Elongation Factor 1, Structural Biology, BINDING, Humans, Lipomatosis, SCATTERING, Molecular Biology, Bone Marrow Diseases, Ribonucleoprotein, U5 Small Nuclear, SBDS, 0303 health sciences, Chemistry, MUTATIONS, Point mutation, Cryoelectron Microscopy, CLINICAL PRESENTATION, Wild type, General Medicine, molecular dynamics simulations, SAXS, point-mutations, Peptide Elongation Factors, Phenotype, Shwachman-Diamond Syndrome, Elongation factor, Biophysics, UPDATE, Exocrine Pancreatic Insufficiency, EFL1

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc66942bf61c3d76b6f7b456aa225c90Test
    https://cris.maastrichtuniversity.nl/en/publications/c6dd4f37-a731-442c-ae4e-745fa9953dfbTest


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  9. 9
    Protein linkers provide limits on the domain interactions in the ABC importer GlnPQ and determine the rate of transport

    المؤلفون: Marijn de Boer, Gea K. Schuurman-Wolters, Martyna K Pietrzyk, Bert Poolman

    المساهمون: Enzymology, Molecular Biophysics

    المصدر: Journal of Molecular Biology, 430(8):j.jmb.2018.02.014, 1249-1262. Academic Press
    Journal of Molecular Biology

    مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, muti-domain protein complexes, Protein subunit, amino acid uptake, substrate-binding protein, ATP-binding cassette transporter, Closed conformation, 03 medical and health sciences, Bacterial Proteins, Protein Domains, Structural Biology, Molecular Biology, chemistry.chemical_classification, Binding Sites, Chemistry, Models, Theoretical, SBDS, Amino acid, inter-domain interactions, Lactococcus lactis, 030104 developmental biology, Membrane, Docking (molecular), transport efficiency, Biophysics, protein linker insertion, ATP-Binding Cassette Transporters, ABC transporter, Linker, Protein Binding

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6623f1183d2e010d2d7944a48511c9c0Test
    https://doi.org/10.1016/j.jmb.2018.02.014Test


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  10. 10
    Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

    المؤلفون: Taizo A. Nakano, Adrianna Vlachos, Maggie Malsch, Alyssa L. Kennedy, Shanshan Liu, David C. Dale, James A. Connelly, Nicholas D. Camarda, James Bowman, Nobuko Hijiya, Akiko Shimamura, R. Coleman Lindsley, Edie Weller, Scott L. Carter, Jeffrey H. Lipton, Kelly Walkovich, Inga Hofmann, Chad E. Harris, Robert Klein, Sioban Keel, Steffen Boettcher, John M. Gansner, Christian Brendel, James N. Huang, Kasiani C. Myers, Wendy Stock, Chris Bahl, Adam J. Lamble, Elissa M. Furutani, Maxim Norkin, Alison A. Bertuch, Ashley Galvin, Bonnie W. Lau, Christopher J. Gibson, Gwen M. Muscato, Richard H. Ho, Mark D. Fleming, Kaitlyn Ballotti, John R. Edwards, Stella M. Davies, Elliot Stieglitz, Paul Castillo

    المصدر: Blood. 136:35-36

    مصطلحات موضوعية: Mutation, Immunology, Wild type, Cell Biology, Hematology, SBDS, Biology, medicine.disease_cause, Biochemistry, Molecular biology, Germline, Ribosome assembly, Germline mutation, medicine, Missense mutation, Exome sequencing

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1377179ab489ea83b3206b582f8fd38cTest
    https://doi.org/10.1182/blood-2020-137125Test


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