Results 41 to 50 of about 9,962,231 (339)

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

Cell Reports, 2015
The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability.
Alyson A. Fiorillo, Christopher R. Heier, James S. Novak, Christopher B. Tully, Kristy J. Brown, Kitipong Uaesoontrachoon, Maria C. Vila, Peter P. Ngheim, Luca Bello, Joe N. Kornegay, Corrado Angelini, Terence A. Partridge, Kanneboyina Nagaraju, Eric P. Hoffman   +13 more
doaj   +1 more source

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies

Therapeutic Advances in Neurological Disorders, 2019
Duchenne and Becker muscular dystrophies are the most common muscle diseases and are both currently incurable. They are caused by mutations in the dystrophin gene, which lead to the absence or reduction/truncation of the encoded protein, with progressive
Daniela Piga, Sabrina Salani, Francesca Magri, Roberta Brusa, Eleonora Mauri, Giacomo P. Comi, Nereo Bresolin, Stefania Corti   +7 more
doaj   +1 more source

Differential Kinetics of Aspergillus nidulans and Aspergillus fumigatus Phagocytosis [PDF]

, 2017
Acknowledgements: The authors would like to acknowledge Fraser P. Coxon and Ian Ganley for providing LC3-GFP-mCherry BMDMs. M.S.G. was supported by an FEMS research grant and F.L.v.d.V.
Alonso, M Fernanda, Bain, Judith M, Becker, Katharina L, Erwig, Lars P, Gresnigt, Mark S, Leenders, Floris, Meis, Jacques F, van de Veerdonk, Frank L, Wang, Xiaowen   +8 more
core   +2 more sources

Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease

PLoS ONE, 2014
Background Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an
V. Escott-Price, C. Bellenguez, Li-San Wang, S. Choi, D. Harold, L. Jones, P. Holmans, A. Gerrish, Alexey Vedernikov, A. Richards, A. Destefano, J. Lambert, C. Ibrahim-Verbaas, A. Naj, R. Sims, G. Jun, J. Bis, G. Beecham, B. Grenier‐Boley, G. Russo, T. Thornton-Wells, N. Denning, A. Smith, V. Chouraki, C. Thomas, M. Ikram, D. Zélénika, B. Vardarajan, Y. Kamatani, Chiao-Feng Lin, H. Schmidt, B. Kunkle, M. Dunstan, M. Vronskaya, Andrew D. Johnson, A. Ruiz, M. Bihoreau, C. Reitz, F. Pasquier, P. Hollingworth, O. Hanon, A. Fitzpatrick, J. Buxbaum, D. Campion, P. Crane, C. Baldwin, T. Becker, V. Gudnason, C. Cruchaga, D. Craig, N. Amin, C. Berr, O. Lopez, P. D. De Jager, V. Deramecourt, J. Johnston, D. Evans, S. Lovestone, L. Letenneur, I. Hernández, D. Rubinsztein, G. Eiriksdottir, K. Sleegers, A. Goate, N. Fievet, M. Huentelman, M. Gill, K. Brown, M. Kamboh, L. Keller, P. Barberger‐Gateau, B. McGuinness, E. Larson, A. Myers, C. Dufouil, S. Todd, D. Wallon, S. Love, E. Rogaeva, J. Gallacher, P. George-Hyslop, J. Clarimón, A. Lleó, A. Bayer, D. Tsuang, Lei Yu, M. Tsolaki, P. Bossù, G. Spalletta, P. Proitsi, J. Collinge, S. Sorbi, Florentino Sanchez Garcia, Nick C Fox, J. Hardy, M. Naranjo, P. Bosco, R. Clarke, C. Brayne, D. Galimberti, E. Scarpini, U. Bonuccelli, M. Mancuso, G. Siciliano, S. Moebus, P. Mecocci, M. Zompo, W. Maier, H. Hampel, A. Pilotto, A. Frank‐García, F. Panza, V. Solfrizzi, P. Caffarra, B. Nacmias, W. Perry, M. Mayhaus, L. Lannfelt, H. Hakonarson, S. Pichler, M. Carrasquillo, M. Ingelsson, D. Beekly, V. Álvarez, F. Zou, O. Valladares, S. Younkin, E. Coto, K. Hamilton-Nelson, W. Gu, C. Razquín, P. Pastor, I. Mateo, M. Owen, K. Faber, P. Jonsson, O. Combarros, M. O’Donovan, L. Cantwell, H. Soininen, D. Blacker, S. Mead, T. Mosley, D. Bennett, T. Harris, L. Fratiglioni, C. Holmes, R. F. de Bruijn, P. Passmore, T. Montine, K. Bettens, J. Rotter, A. Brice, K. Morgan, T. Foroud, W. Kukull, D. Hannequin, J. Powell, M. Nalls, K. Ritchie, K. Lunetta, J. Kauwe, E. Boerwinkle, M. Riemenschneider, M. Boada, M. Hiltunen, E. Martin, R. Schmidt, D. Rujescu, J. Dartigues, R. Mayeux, C. Tzourio, A. Hofman, M. Nöthen, C. Graff, B. Psaty, J. Haines, M. Lathrop, M. Pericak-Vance, L. Launer, C. van Broeckhoven, L. Farrer, C. V. van Duijn, A. Ramírez, S. Seshadri, G. Schellenberg, P. Amouyel, Julie Williams   +187 more
semanticscholar   +1 more source

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

BMC Medical Genetics, 2020
Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction.
Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov   +6 more
doaj   +1 more source

Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy

Acta Neuropathologica Communications, 2022
Becker muscular dystrophy (BMD) is a severe X-linked muscle disease. Age of onset, clinical variability, speed of progression and affected tissues display wide variability, making a clinical trial design for drug development very complex.
M. Ripolone, D. Velardo, S. Mondello, S. Zanotti, F. Magri, Elisa Minuti, S. Cazzaniga, F. Fortunato, P. Ciscato, Francesca Tiberio, M. Sciacco, M. Moggio, P. Bettica, G. Comi   +13 more
semanticscholar   +1 more source

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

Molecular Genetics and Metabolism Reports, 2020
Background: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507.
Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam   +2 more
doaj   +1 more source

Atrioventricular Septal Defect: What Is in a Name?

Journal of Cardiovascular Development and Disease, 2021
Robert Anderson has made a huge contribution to almost all aspects of morphology and understanding of congenital cardiac malformations, none more so than the group of anomalies that many of those in the practice of paediatric cardiology and adult ...
Michael Rigby
doaj   +1 more source

Evidence for West Nile Virus and Usutu Virus Infections in Wild and Resident Birds in Germany, 2017 and 2018 [PDF]

, 2019
Wild birds play an important role as reservoir hosts and vectors for zoonotic arboviruses and foster their spread. Usutu virus (USUV) has been circulating endemically in Germany since 2011, while West Nile virus (WNV) was first diagnosed in several bird ...
Eiden, Martin, Fast, Christine, Fischer, Dominik, Groschup, Martin H., Keller, Markus, Korbel, Rüdiger, Lierz, Michael, Lühken, Renke, Michel, Friederike, Müller, Kerstin, Reuschel, Maximilian, Rinder, Monika, Schmidt, Volker, Schmoock, Martina, Schwehn, Rebekka, Sieg, Michael, Urbaniak, Sylvia, Vahlenkamp, Thomas W., Wysocki, Patrick, Ziegler, Ute   +19 more
core   +2 more sources

Dirty Fish Versus Squeaky Clean Mice: Dissecting Interspecies Differences Between Animal Models of Interferonopathy

Frontiers in Immunology, 2021
Autoimmune and autoinflammatory diseases are rare but often devastating disorders, underpinned by abnormal immune function. While some autoimmune disorders are thought to be triggered by a burden of infection throughout life, others are thought to be ...
Holly A. Rutherford, Paul R. Kasher, Paul R. Kasher, Noémie Hamilton   +3 more
doaj   +1 more source