Results 91 to 100 of about 54,763 (333)

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

Whole-genome sequencing and the clinician: a tale of two cities [PDF]

, 2014
Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley, Dickens, Dubowitz, F. Muntoni, Foley, Gualandi, J. He, J. Kim, Jöbsis, Jöbsis, Kim, Lupski, M. G. Hanna, Mercuri, Mercuri, Morrow, N. M. Pearson, Pace, Pan, Phimister, R. D. S. Pitceathly, Straub   +21 more
core   +2 more sources

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Necroptosis mediates myofibre death in dystrophin-deficient mice

Nature Communications, 2018
Muscular dystrophies are characterised by extensive myofibre cell death. Here Morgan et al. show that RIPK3-mediated necroptosis contributes to myofibre cell death in Duchenne muscular dystrophy, and that RIPK3 deletion protects dystrophic mice against ...
Jennifer E. Morgan, Alexandre Prola, Virginie Mariot, Veronica Pini, Jinhong Meng, Christophe Hourde, Julie Dumonceaux, Francesco Conti, Frederic Relaix, Francois-Jerôme Authier, Laurent Tiret, Francesco Muntoni, Maximilien Bencze   +12 more
doaj   +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

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells [PDF]

, 2016
A number of microRNAs have been shown to regulate skeletal muscle development and differentiation. MicroRNA-222 is downregulated during myogenic differentiation and its overexpression leads to alteration of muscle differentiation process and specialized ...
Cappella, Marisa, Cardinali, B., Cittaro, D., Falcone, G., Garcia Manteiga, J. M., Lazarevic, D., Martelli, F, Provenzano, C.   +7 more
core   +2 more sources

Docking and Molecular Dynamics Simulation‐Based Analysis of Advanced Small‐Molecule Kinase Inhibitors Identified pre‐let‐7 miRNA Binders

ChemBioChem, Accepted Article.
RNAs play crucial roles in various cellular actions, and the uncontrolled expression or improper folding of RNAs is a cause of many diseases. Certain oncogenic phenotypes stem from the overexpression of regulatory microRNAs that contain secondary structural elements.
Soma Roy, Yang Liu, Peng Wu
wiley   +1 more source

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

Frontiers in Genetics
BackgroundMuscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.MethodsThis study aimed to investigate the use of whole exome ...
Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chih-Kuang Chuang, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin   +22 more
doaj   +1 more source

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy

BMC Neurology, 2018
Background Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses.
Burcu Balci-Hayta, Beril Talim, Gulsev Kale, Pervin Dincer   +3 more
doaj   +1 more source

Pseudohypertrophic Muscular Dystrophy [PDF]

The Journal of Nervous and Mental Disease, 1915
n ...
Shaw, J., Brink,
openaire   +3 more sources