-
1MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
المؤلفون: David Mowat, Sandra Donkervoort, Dimah Saade, Timothy E. Shutt, R. Hanson, Volker Straub, J.S. Parboosingh, Alessandra Carnevale, Francois P. Bernier, Pomi Yun, Rupleen Kaur, Beryl B. Cummings, I. Al Khatib, Carol J Saunders, Amy Harper, Peter I. Karachunski, Laurence Gauquelin, Leigh B. Waddell, Michelle A. Farrar, A.M. Innes, Rasha Sabouny, Asif Javed, Isabelle Thiffault, Ana Töpf, Sophelia H. S. Chan, Steven A. Moore, Katherine R. Chao, Nanna Witting, M. Leach, Jean K. Mah, C. Thompson, Rhonda E. Schnur, Joline C. Dalton, Carsten G. Bönnemann, Julia K. Goodrich, Keith A. Coffman, Prech Uapinyoying, Ryan E. Lamont, Sabine Specht, L. Medne, Grace Yoon, A. Reghan Foley, Kym M. Boycott, Payam Mohassel, John Vissing, Hilary E. Racher, Ying Hu, M. Hainlen
المصدر: Care4Rare Canada Consortium 2019, ' MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement ', Acta Neuropathologica, vol. 138, no. 6, pp. 1013-1031 . https://doi.org/10.1007/s00401-019-02059-z
Acta Neuropathologicaمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, DNA Copy Number Variations, Cell Cycle Proteins, Disease, Biology, DNA, Mitochondrial, Muscular Dystrophies, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Cerebellar Diseases, MSTO1, Mitochondrial fusion, medicine, Humans, MtDNA depletion, Muscular dystrophy, Child, Cells, Cultured, Loss function, Genetics, Original Paper, Cerebellar ataxia, Muscles, Fibroblasts, Middle Aged, medicine.disease, Phenotype, 3. Good health, Cytoskeletal Proteins, 030104 developmental biology, mitochondrial fusion, Cerebellar atrophy, Mutation, Female, Neurology (clinical), Atrophy, medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd4dcb898e43a5a52e65551664c6d248
https://curis.ku.dk/portal/da/publications/msto1-mutations-cause-mtdna-depletion-manifesting-as-muscular-dystrophy-with-cerebellar-involvement(e62e468c-64e0-48f8-b30c-3ccddf0547bb).html -
2
المؤلفون: Richard T. Pon, Ryan E. Lamont, Uwe Wolfrum, Robert A. Hegele, Dan Doherty, Fiona Stewart, Martin McKibbin, Jay Shendure, Grischa Toedt, Colin E. Willoughby, Jillian S. Parboosingh, Clem Donahue, Kirsten A. Wunderlich, Lijia Huang, Marius Ueffing, Hannah M. Mitchison, Nasrin Sorusch, Teunis J. P. van Dam, Zakia Abdelhamed, Kym M. Boycott, Francois P. Bernier, Mohammed A. Aldahmesh, Subaashini Natarajan, Bernard N. Chodirker, Carole Ober, Julie Higgins, Matthew Adams, Darren C. Tomlinson, Hilary E. Racher, Thanh Minh T. Nguyen, Ian G. Phelps, Andreas Giessl, Katarzyna Szymanska, Ewan E. Morrison, Albert E. Chudley, Fowzan S. Alkuraya, Panagiotis I. Sergouniotis, Patrick Frosk, Jacquelyn Bond, Miriam Schmidts, Susanne Roosing, Nicola Horn, Gabrielle Wheway, Sandra M. Bell, Carmel Toomes, Toby J. Gibson, Martijn A. Huynen, Philip L. Beales, Gisela G. Slaats, Julie Kennedy, Clare V. Logan, Oliver E. Blacque, Paul M. K. Gordon, Rachel H. Giles, Heymut Omran, Aizeddin A. Mhanni, A. James Barkovich, David A. Parry, A. Micheil Innes, Dorus A. Mans, Jeroen van Reeuwijk, Kristin Kessler, Louis Wolf, Shamsa Anazi, Evan A. Boyle, Karsten Boldt, Ronald Roepman, Joseph G. Gleeson, Andrew R. Webster, Selwa A. Al Hazzaa, Chris F. Inglehearn, Warren Herridge, Christian Thiel, Chandree L. Beaulieu, Colin A. Johnson, Stef J.F. Letteboer
المصدر: Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Groupمصطلحات موضوعية: PRPF31, Pregnancy Proteins, Inbred C57BL, Ciliopathies, Mice, Immunologic, Cerebellum, Databases, Genetic, Eye Abnormalities, Non-U.S. Gov't, Zebrafish, Exome sequencing, Mice, Knockout, Genetics, Research Support, Non-U.S. Gov't, Cilium, High-Throughput Nucleotide Sequencing, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Kidney Diseases, Cystic, Phenotype, Kidney Diseases, RNA Interference, Abnormalities, Multiple, Functional genomics, Ciliary Motility Disorders, Genetic Markers, Ellis-Van Creveld Syndrome, Knockout, Jeune syndrome, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Transfection, Retina, Article, whole-genome siRNA screen, Joubert syndrome, N.I.H, Databases, Cystic, reverse genetics, Research Support, N.I.H., Extramural, Genetic, Cerebellar Diseases, Ciliogenesis, Suppressor Factors, Journal Article, Suppressor Factors, Immunologic, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Photoreceptor Cells, Cilia, Genetic Testing, Caenorhabditis elegans, Extramural, Membrane Proteins, Proteins, Reproducibility of Results, Cell Biology, medicine.disease, Mice, Inbred C57BL, Cytoskeletal Proteins, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], HEK293 Cells, Mutation, ciliopathies, Genome-Wide Association Study
وصف الملف: image/pdf
-
3
المؤلفون: P Y Billie, Au, Hilary E, Racher, John M, Graham, Nancy, Kramer, R Brian, Lowry, Jillian S, Parboosingh, A Micheil, Innes, Steve, Scherer
المصدر: American Journal of Medical Genetics Part A. 164:676-684
مصطلحات موضوعية: Marfan syndrome, Connective Tissue Disorder, Mutation, Missense, Bioinformatics, Marfan Syndrome, Craniosynostosis, Craniosynostoses, Exon, Proto-Oncogene Proteins, Intellectual disability, Genetics, Humans, Medicine, Missense mutation, Genetics (clinical), biology, business.industry, SKI protein, Brain, Facies, Shprintzen–Goldberg syndrome, Exons, medicine.disease, Magnetic Resonance Imaging, DNA-Binding Proteins, Arachnodactyly, Phenotype, Spinal Cord, Child, Preschool, biology.protein, Female, Tomography, X-Ray Computed, business
-
4
المؤلفون: Francois P. Bernier, Ryan E. Lamont, Jillian S. Parboosingh, A. Micheil Innes, Hilary E. Racher, P.Y. Billie Au, Christopher Smith
المصدر: Journal of Medical Genetics. 52:A6.3-A7
مصطلحات موضوعية: Proband, Genetics, Mutation, Macrocephaly, Biology, medicine.disease, medicine.disease_cause, Bioinformatics, Chromodomain, Intellectual disability, medicine, Autism, medicine.symptom, Genetics (clinical), Exome sequencing, Loss function
Find this article in full text from Springer Verlag.