Results 11 to 20 of about 28,350 (246)

Current knowledge of dystrophin and dystrophin-associated proteins in the retina. [PDF]

Histology and histopathology, 2000
Dramatical development of molecular genetics has been disclosing the molecular mechanism of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD gene product, dystrophin, is a submembranous cytoskeletal protein and many dystrophin-associated proteins (DAPs) have been identified, such as utrophin, dystroglycans, sarcoglycans ...
Ueda, H., Baba, T., Ohno, S.
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The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle [PDF]

Frontiers in Physiology, 2022
This review details the role of dystrophin and the dystrophin associated proteins (DAPs) in the vascular smooth muscle. Dystrophin is most comprehensively studied in the skeletal muscle due to serious symptoms found related to the skeletal muscle of ...
Katherine M. Kaplan, Kathleen G. Morgan
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Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy [PDF]

, 2023
Muscular dystrophy due to dystrophin deficiency in humans is phenotypically divided into a severe Duchenne and milder Becker type. Dystrophin deficiency has also been described in a few animal species, and few DMD gene variants have been identified in ...
Stephanie Hilton, Thomas Bilzer, Giger, Urs, Vidhya Jagannathan, Bilzer, Thomas, Jagannathan, Vidhya, Urs Giger, Christen, Matthias, Leeb, Tosso, Hilton, Stephanie, Tosso Leeb, Matthias Christen   +11 more
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Aberrant location of inhibitory synaptic marker proteins in the hippocampus of dystrophin-deficient mice [PDF]

, 2014
Duchenne muscular dystrophy (DMD) is a neuromuscular disease that arises from mutations in the dystrophin-encoding gene. Apart from muscle pathology, cognitive impairment, primarily of developmental origin, is also a significant component of the disorder.
Zablocki, Krzysztof, Elżbieta Krasowska, Krasowska Elżbieta, Gorecki, Dariusz C., Swinny, Jerome D., Dariusz C Górecki, Swinny Jerome D., Zabłocki Krzysztof, Jerome D Swinny, Krasowska, Elzbieta, Górecki Dariusz C., Krzysztof Zabłocki   +11 more
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Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R, Burghes, Arthur H M, Guttridge, Denis C, Sahenk, Zarife, Saji, Motoyasu, Acharyya, Swarnali, Ringel, Matthew D, Skipworth, Richard J E, Rafael-Fortney, Jill A, Wang, Huating, Ringel, Matthew D., Hollingsworth, Michael A, Carathers, Micheal, Fearon, Kenneth C H, Butchbach, Matthew E.R., Hollingsworth, Michael A., Muscarella, Peter, Guttridge, Denis C., Rafael-Fortney, Jill A., Skipworth, Richard J.E., Burghes, Arthur H.M., Fearon, Kenneth C.H.   +21 more
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The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

Acta Neuropathologica Communications, 2021
During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies.
Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni   +19 more
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Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [PDF]

, 1990
A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene
Mahler, V., Ried, Thomas, V. Mahler, van Ommen, G. J. B., G. J. B. van Ommen, Blonden, L., Cremer, Thomas, Vogt, Peter, L. Blonden, P. Vogt, T. Ried, T. Cremer, M. Cremer   +12 more
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Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
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Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay

Scientific Reports, 2021
Becker muscular dystrophy (BMD) is the milder allelic variant of Duchenne muscular dystrophy, with higher dystrophin levels. To anticipate on results of interventions targeting dystrophin expression it is important to know the natural variation of ...
Z. Koeks, A. A. Janson, C. Beekman, M. Signorelli, H. A. van Duyvenvoorde, J. C. van den Bergen, M. T. Hooijmans, I. Alleman, I. M. Hegeman, J. J. G. M. Verschuuren, J. C. v. Deutekom, P. Spitali, N. A. Datson, E. H. Niks   +13 more
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Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy

Molecular Therapy: Nucleic Acids, 2022
Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function.
Liubov V. Gushchina, Tatyana A. Vetter, Emma C. Frair, Adrienne J. Bradley, Kelly M. Grounds, Jacob W. Lay, Nianyuan Huang, Aisha Suhaiba, Frederick J. Schnell, Gunnar Hanson, Tabatha R. Simmons, Nicolas Wein, Kevin M. Flanigan   +12 more
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