Results 61 to 70 of about 68,781 (284)

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang, Yufei Li, Lin Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun, Xiaochao Zhang   +9 more
wiley   +1 more source

Duchenne muscular dystrophy: current cell therapies

Therapeutic Advances in Neurological Disorders, 2015
Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy.
Dorota Sienkiewicz, Wojciech Kulak, Bożena Okurowska-Zawada, Grażyna Paszko-Patej, Katarzyna Kawnik   +4 more
doaj   +1 more source

Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy.
Abdallah Fayssoil, Nicolas Mansencal, Lee S. Nguyen, Olivier Nardi, Rabah Ben Yaou, France Leturcq, Helge Amthor, Karim Wahbi, Henri Marc Becane, Frederic Lofaso, Helene Prigent, Guillaume Bassez, Anthony Behin, Tanya Stojkovic, Bertrand Fontaine, Denis Duboc, Olivier Dubourg, Bernard Clair, Pascal Laforet, Djillali Annane, David Orlikowski   +20 more
doaj   +1 more source

Dasatinib as a treatment for Duchenne muscular dystrophy [PDF]

, 2016
Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition.
Emmerson, T., Lipscomb, L., Piggott, R.W., Winder, S.J.   +3 more
core   +1 more source

Techno‐Economic Analysis of Membrane‐Based Purification Platforms for AAV Vector Production

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Technologies for large‐scale manufacturing of viral vectors for gene therapies, such as tangential flow filtration and membrane chromatography, are under development. In these early stages of process development, techno‐economic analyses are useful for identifying membrane properties yielding the greatest impact on process performance. In this
Juan J. Romero, Eleanor W. Jenkins, Jacob I. Monroe, S. Ranil Wickramasinghe, Xianghong Qian, Dibakar Bhattacharyya, Scott M. Husson   +6 more
wiley   +1 more source

Osteopontin ablation ameliorates muscular dystrophy by shifting macrophages to a pro-regenerative phenotype. [PDF]

, 2016
In the degenerative disease Duchenne muscular dystrophy, inflammatory cells enter muscles in response to repetitive muscle damage. Immune factors are required for muscle regeneration, but chronic inflammation creates a profibrotic milieu that exacerbates
Barton, Elisabeth R, Capote, Joana, Kramerova, Irina, Martinez, Leonel, Miceli, M Carrie, Spencer, Melissa J, Sweeney, H Lee, Vetrone, Sylvia   +7 more
core   +2 more sources

Considerations in Transition of Pediatric Neurology Patients to Adult Care

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Transition refers to the planned, coordinated movement of adolescents from the child‐ and family‐centered environment of pediatric care to the adult healthcare system. A well‐structured transition process is essential for ensuring adolescents with chronic health conditions continue to thrive in young adulthood.
Asif Doja, Katherine Muir, Megan E. Harrison, Sarah Healy, Ashley Vandermorris, Alene Toulany   +5 more
wiley   +1 more source

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Einstein (São Paulo)
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa   +3 more
doaj   +1 more source

Gel Electrophoretic Detection of Black Market ACE‐031

Drug Testing and Analysis, EarlyView.
This article presents a study on black market ACE‐031 products and their detection by gel‐electrophoresis and Western blotting. Of the 14 tested products, only 12 contained an ACVR2B‐immunoreactive protein. However, mass spectrometry revealed that the products did not contain the ACVR2B‐Fc fusion protein ACE‐031 but instead the full‐length human ...
Christian Reichel, Thomas Filip, Günter Gmeiner, Mario Thevis   +3 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source