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1كتاب إلكتروني
المؤلفون: Odunuga, Odutayo O.Aff8, Oberhauser, Andres F.Aff9
المساهمون: Harris, J. Robin, Series EditorAff1, Kundu, Tapas K., Advisory EditorAff2, Korolchuk, Viktor, Advisory EditorAff3, Bolanos-Garcia, Victor, Advisory EditorAff4, Marles-Wright, Jon, Advisory EditorAff5, Edkins, Adrienne L., editorAff6, Blatch, Gregory L., editorAff7
المصدر: The Networking of Chaperones by Co-Chaperones. 101:189-211
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2دورية أكاديمية
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3دورية أكاديمية
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4دورية أكاديمية
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5دورية أكاديمية
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6دورية أكاديمية
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7دورية أكاديمية
المؤلفون: David B. Pilgrim, Torah M. Kachur
المصدر: International Journal of Molecular Sciences, Vol 9, Iss 9, Pp 1863-1875 (2008)
مصطلحات موضوعية: Myosin, chaperone, protein folding, UNC-45, motor domain, heat shock protein, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Crawford, Garland L., Horowits, Robert
المصدر: Biophysical Reviews. March 2011 3(1):25-32
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المؤلفون: Serena Governali, Jonathan Baets, Sarah Djeddi, Willem De Ridder, Reza Maroofian, Ying Hu, Stephanie Efthymiou, Xavière Lornage, Stefan Conijn, Vincenzo Salpietro, Aritoshi Iida, Satoru Noguchi, Norma B. Romero, Magdalena Mroczek, Carola Hedberg-Oldfors, Tumtip Sangruchi, Julien Fauré, S. Neuhaus, Wojciech Pokrzywa, Ichizo Nishino, Ana Töpf, Kanokwan Boonyapisit, Fabiana Lubieniecki, Edoardo Malfatti, Jantima Tanboon, Chiara Fiorillo, Johann Böhm, Thorsten Hoppe, Véronique Bolduc, Soledad Monges, Niklas Darin, Coen A.C. Ottenheijm, Riley M. McCarty, Volker Straub, Anders Oldfors, Gabriella Di Rosa, A. Reghan Foley, Henry Houlden, John Rendu, Nancy L. Kuntz, Jocelyn Laporte, Carsten G. Bönnemann, Carl Elias Kutzner, Tanya Stojkovic, Katherine R. Chao, Iren Horkayne-Szakaly, Sandra Donkervoort
المساهمون: National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), University of Cologne, 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), Centre Hospitalier Universitaire [Grenoble] (CHU), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Antwerp (UA), Mahidol University [Bangkok], University College of London [London] (UCL), Newcastle University [Newcastle], Amsterdam UMC - Amsterdam University Medical Center, Northwestern University Feinberg School of Medicine, Hospital Nacional de Pediatría J.P. Garrahan, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Hôpital Raymond Poincaré [AP-HP], National Center of Neurology and Psychiatry, University of Gothenburg (GU), National Center of Neurology and Psychiatry [Tokyo, Japan], University of Messina, Università degli studi di Genova = University of Genoa (UniGe), International Institute of Molecular and Cell Biology [Warsaw] (IIMCB), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Arizona, univOAK, Archive ouverte, Physiology, ACS - Pulmonary hypertension & thrombosis
المصدر: The American journal of human genetics
Am J Hum Genet
Donkervoort, S, Kutzner, C E, Hu, Y, Lornage, X, Rendu, J, Stojkovic, T, Baets, J, Neuhaus, S B, Tanboon, J, Maroofian, R, Bolduc, V, Mroczek, M, Conijn, S, Kuntz, N L, Töpf, A, Monges, S, Lubieniecki, F, McCarty, R M, Chao, K R, Governali, S, Böhm, J, Boonyapisit, K, Malfatti, E, Sangruchi, T, Horkayne-Szakaly, I, Hedberg-Oldfors, C, Efthymiou, S, Noguchi, S, Djeddi, S, Iida, A, di Rosa, G, Fiorillo, C, Salpietro, V, Darin, N, Fauré, J, Houlden, H, Oldfors, A, Nishino, I, de Ridder, W, Straub, V, Pokrzywa, W, Laporte, J, Foley, A R, Romero, N B, Ottenheijm, C, Hoppe, T & Bönnemann, C G 2020, ' Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores ', American journal of human genetics, vol. 107, no. 6, pp. 1078-1095 . https://doi.org/10.1016/j.ajhg.2020.11.002
American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (6), pp.1078-1095. ⟨10.1016/j.ajhg.2020.11.002⟩
American journal of human genetics, 107(6), 1078-1095. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Male, muscle, myosin, Sarcomere, Whole Exome Sequencing, 0302 clinical medicine, Myofibrils, Loss of Function Mutation, Myosin, Missense mutation, chaperone, Transgenes, Genetics (clinical), Caenorhabditis elegans, C. elegans, core myopathy, myofibrillar, sarcomere, UNC-45, UNC45B, Adolescent, Adult, Alleles, Animals, Caenorhabditis elegans Proteins, Female, Genetic Variation, Humans, Molecular Chaperones, Muscle, Skeletal, Muscular Diseases, Myosins, Sarcomeres, Sequence Analysis, RNA, Young Adult, Mutation, Missense, biology, Skeletal, Cell biology, Myosin binding, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Sequence Analysis, macromolecular substances, Article, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Myopathy, fungi, biology.organism_classification, 030104 developmental biology, Chaperone (protein), Mutation, biology.protein, RNA, Human medicine, Missense, Myofibril, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467cb4bfba3c31ad18671350dc435ac4
https://repository.uantwerpen.be/docstore/d:irua:4445 -
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المؤلفون: Paul J. Bujalowski, Eleno Garza, Paul Nicholls, Andres F. Oberhauser
المصدر: FEBS Open Bio
مصطلحات موضوعية: 0301 basic medicine, Myosin light-chain kinase, ATPase, myosin, macromolecular substances, Biology, Sarcomere, Hsp90, General Biochemistry, Genetics and Molecular Biology, 3. Good health, Cell biology, 03 medical and health sciences, 030104 developmental biology, Biochemistry, UNC‐45, Chaperone (protein), Myosin, biology.protein, chaperone, Myofibril, Research Articles, Actin, Research Article