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المؤلفون: David W. Ray, John Blaikley, Clare M. Lloyd, Andrew S. I. Loudon, Julie E. Gibbs, Laurence C. Goosey, Peter Meijer, Lisa G. Gregory, Nicola Begley, Hannah J. Durrington, Karolina Krakowiak, Robert Maidstone
المصدر: Durrington, H J, Krakowiak, K, Meijer, P, Begley, N, Maidstone, R, Goosey, L, Gibbs, J E, Blaikley, J F, Gregory, L G, Lloyd, C M, Loudon, A S I & Ray, D W 2020, ' Circadian asthma airway responses are gated by REV-ERBα ', European Respiratory Journal, vol. 56, 1902407 . https://doi.org/10.1183/13993003.02407-2019Test
Eur Respir Jمصطلحات موضوعية: Pulmonary and Respiratory Medicine, Allergy, medicine.medical_treatment, Circadian clock, Inflammation, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Circadian Clocks, medicine, Animals, 030212 general & internal medicine, Circadian rhythm, Asthma, business.industry, Chronotherapy (sleep phase), medicine.disease, Circadian Rhythm, 3. Good health, respiratory tract diseases, CLOCK, 030228 respiratory system, Nuclear Receptor Subfamily 1, Group D, Member 1, Immunology, Methacholine, medicine.symptom, business, medicine.drug
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd1407f94ec9f74dac7eb653bd2766f5Test
https://doi.org/10.1183/13993003.02407-2019Test -
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المؤلفون: Maria Voronkov, Michal Minczuk, David W. Ray, Julie E. Gibbs, Karolina Krakowiak, David A. Bechtold, Andrew S. I. Loudon, Christian Pinali, Mudassar Iqbal, Laurence C. Goosey, Robert Maidstone, Abigail Knight, Matthew Baxter, Antony Adamson, Min Zi, Laura Matthews, Gina L. J. Galli, Neil E Humphreys, Toryn Poolman, Pedro Rebelo-Guiomar, Sukhpal Prehar, Elizabeth J. Cartwright
المساهمون: Baxter, Matthew [0000-0002-3612-2574], Voronkov, Maria [0000-0001-5636-9892], Maidstone, Robert [0000-0002-3482-3246], Minczuk, Michal [0000-0001-8242-1420], Apollo - University of Cambridge Repository
المصدر: eLife, Vol 9 (2020)
eLife
Baxter, M, Voronkov, M, Poolman, T, Galli, G, Pinali, C, Goosey, L, Knight, A, Krakowiak, K, Maidstone, R, Iqbal, M, Zi, M, Prehar, S, Cartwright, E J, Gibbs, J, Matthews, L C, Adamson, A D, Humphreys, N E, Rebelo-guiomar, P, Minczuk, M, Bechtold, D A, Loudon, A & Ray, D 2020, ' Cardiac mitochondrial function depends on BUD23 mediated ribosome programming ', eLife, vol. 9, e50705 . https://doi.org/10.7554/eLife.50705Testمصطلحات موضوعية: Male, 0301 basic medicine, Cell biology, Bioenergetics, Mouse, QH301-705.5, Science, Biology, Mitochondrion, Ribosome, General Biochemistry, Genetics and Molecular Biology, Mitochondrial Proteins, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Animals, Humans, Myocytes, Cardiac, Protein Interaction Maps, Biology (General), A549 cell, Base Composition, Messenger RNA, General Immunology and Microbiology, Protein translation, General Neuroscience, Translation (biology), Methyltransferases, General Medicine, Embryo, Mammalian, Mitochondria, 030104 developmental biology, A549 Cells, 030220 oncology & carcinogenesis, Medicine, Female, 5' Untranslated Regions, Cardiomyopathies, Ribosomes, Cardiac, Function (biology), Research Article, Human
وصف الملف: application/pdf; application/zip; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa5e04871b65527d44e733e9e401302Test
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المؤلفون: Christian Pinali, David A. Bechtold, Toryn Poolman, Pedro Rebelo-Guiomar, Min Zi, Sukhpal Prehar, Matthew Baxter, Karolina Krakowiak, Robert Maidstone, Laura Matthews, Elizabeth J. Cartwright, Antony Adamson, Abigail Knight, Laurence C. Goosey, Maria Voronkov, Julie E. Gibbs, Michal Minczuk, David W. Ray, Gina L. J. Galli, Mudassar Iqbal, Andrew S. I. Loudon, Neil E Humphreys
مصطلحات موضوعية: Chemistry, Ribosome, Function (biology), Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7a4e4af879d04313e964421688aef2cbTest
https://doi.org/10.7554/elife.50705.sa2Test -
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المؤلفون: Rosaline Caumes, Andrea Berger, John Stone, Roberta Battini, Charles Marques Lourenço, Gerardine Quaghebeur, Nicholas A. Fletcher, Elliott H. Sherr, Marjo S. van der Knaap, Sanjeev S. Bhaskar, Marco Henneke, Kanaga R. Sinnathuray, Pierre Landrieu, James O'Sullivan, Calvin Soh, Himanshu Goel, Patrick Ferreira, Katrin Õunap, Cheryl Hemingway, Laurence C. Goosey, Graham D. Pavitt, Hilde Van Esch, Prab Prabhakar, Yoann Rose, Jill E. Urquhart, Yanick J. Crow, Gabriela M. Baerlocher, Simon G. Williams, Mathieu P Rodero, Ram L. Kumar, Emma M. Jenkinson, Gillian I. Rice, Sarju G. Mehta, Adeline Vanderver, Timothy J. Malpas, Christopher J. Kershaw, Imke Metz, Edward Blair, Paul R. Kasher, Imelda Hughes, Patrick Revy, David Cassiman, Duccio Maria Cordelli, Angela Barnicoat, Andrea Whitney, Janice E. Brunstrom-Hernandez, Axel Panzer, Kristin W. Barañano, Liesbeth De Waele, Geraldine Aubert, Raphael Schiffmann, H. Stewart, Monika Haubitz, Rosalind J. Jefferson, Alan Fryer, Anthony Oojageer, Carolina Uggenti, John H. Livingston, Sam Griffiths-Jones, Christine E. G. van Mol, Johannes A. Buckard, Raymond T. O'Keefe, Lieven Lagae, Emma Wakeling, Sakkubai Naidu, Alex J. Fay
المساهمون: Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Manchester Centre for Genomic Medicine (MCGM), Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-St Mary's Hospital Manchester, Laboratory of neurogenetics and neuroinflammation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Department of Medical Genetics, HMNC Brain Health
المصدر: Nature genetics
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.317-317. ⟨10.1038/NG0217-317B⟩
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2017, ' Corrigendum : Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 49, no. 2, pp. 317 . https://doi.org/10.1038/ng0217-317bTestمصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Biology, medicine.disease, Article, 3. Good health, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Cerebral microangiopathy, Genetics, medicine, 610 Medicine & health, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f37cd798154cef81360a3f0f6cad36a4Test
https://pubmed.ncbi.nlm.nih.gov/27571260Test -
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المؤلفون: Elliott H. Sherr, Edward Blair, Charles Marques Lourenço, James O'Sullivan, Imke Metz, Paul R. Kasher, Gabriela M. Baerlocher, Adeline Vanderver, David Cassiman, Himanshu Goel, Nicholas A. Fletcher, Patrick Ferreira, Patrick Revy, Emma Wakeling, Ram L. Kumar, Lieven Lagae, Christopher J. Kershaw, Pierre Landrieu, Andrea Whitney, Calvin Soh, Christine E. G. van Mol, Sakkubai Naidu, John H. Livingston, Geraldine Aubert, H. Stewart, Laurence C. Goosey, Liesbeth De Waele, Kristin W. Barañano, Rosalind J. Jefferson, Axel Panzer, Gerardine Quaghebeur, Raphael Schiffmann, Yanick J. Crow, Hilde Van Esch, Raymond T. O'Keefe, Jill E. Urquhart, Alan Fryer, Mathieu P Rodero, Alex J. Fay, Monika Haubitz, Andrea Berger, Johannes A. Buckard, Cheryl Hemingway, Angela Barnicoat, Sam Griffiths-Jones, Duccio Maria Cordelli, Imelda Hughes, Katrin Õunap, Graham D. Pavitt, Roberta Battini, Yoann Rose, Marjo S. van der Knaap, Sanjeev S. Bhaskar, John Stone, Gillian I. Rice, Marco Henneke, Kanaga R. Sinnathuray, Emma M. Jenkinson, Timothy J. Malpas, Simon G. Williams, Anthony Oojageer, Carolina Uggenti, Rosaline Caumes, Prab Prabhakar, Sarju G. Mehta, Janice E. Brunstrom-Hernandez
المساهمون: Manchester Centre for Genomic Medicine (MCGM), Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-St Mary's Hospital Manchester, Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Manchester [Manchester], Department of Medical Genetics, HMNC Brain Health, Other departments, Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yoann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O'Sullivan, Jame, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E. G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, Van Der Knaap, Marjo S., Livingston, John H., O'Keefe, Raymond T., Crow, Yanick J., Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Ounap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2016, ' Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 48, no. 10, pp. 1185-1192 . https://doi.org/10.1038/ng.3661Test
Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (10), pp.1185-1192. ⟨10.1038/NG.3661⟩
Nature genetics, 48(10), 1185-1192. Nature Publishing Group
Jenkinson, E, Rodero, M P, Kasher, P, Uggenti, C, Oojageer, A, Goosey, L, Rose, Y, Urquhart, J, Williams, S, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Barañano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenço, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G, Griffiths-Jones, S, Rice, G, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R, Crow, Y & Kershaw, C 2016, ' Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts ', Nature Genetics, vol. 48, no. 10, pp. 1185–1192 . https://doi.org/10.1038/ng.3661Test
Nature Genetics, 48(10), 1185-1192. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Male, Genetic Linkage, [SDV]Life Sciences [q-bio], Ribosome biogenesis, medicine.disease_cause, Leukoencephalopathy, Leukoencephalopathie, Cohort Studies, 0302 clinical medicine, Leukoencephalopathies, Exome, Small nucleolar RNA, 610 Medicine & health, Child, ComputingMilieux_MISCELLANEOUS, Genetics, Mutation, Genome, Cysts, Calcinosis, Middle Aged, Phenotype, Child, Preschool, Calcinosi, Female, Sequence Analysis, Human, Adult, Adolescent, Biology, Chromosomes, Cell Line, 03 medical and health sciences, Young Adult, medicine, RNA, Small Nucleolar, Humans, Preschool, Gene, Small Nucleolar, Genome, Human, Pair 17, RNA, Infant, Sequence Analysis, DNA, DNA, Cerebral Small Vessel Diseases, Chromosomes, Human, Pair 17, medicine.disease, Cerebral Small Vessel Disease, 030104 developmental biology, Cyst, Cohort Studie, 030217 neurology & neurosurgery
وصف الملف: STAMPA; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::248a31034cff185ba949cc59f4e8808aTest
https://research.vumc.nl/en/publications/141c9dc6-3b6e-460f-aaab-733525abdf55Test