A5086823894- Muscle Physiology and Disorders
- RNA Research and Splicing
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Inflammatory Myopathies and Dermatomyositis
- Heterotopic Ossification and Related Conditions
- Skin Diseases and Diabetes
- Cardiomyopathy and Myosin Studies
- Adrenal Hormones and Disorders
- Neurogenetic and Muscular Disorders Research
- Adipose Tissue and Metabolism
- RNA modifications and cancer
University of New Mexico
2023-2024
Nationwide Children's Hospital
2018-2021
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant or digenic disorder linked to derepression of the toxic DUX4 gene in muscle. There currently no pharmacological treatment. The emergence enabled development cell and animal models that could be used for basic translational research. Since toxic, model has been challenging, but progress made, revealing tight regulation expression critical creating viable animals develop myopathy. Here, we report such a —...
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is a potentially devastating myopathy caused by de-repression of the DUX4 gene in skeletal muscles. Effective therapies will likely involve inhibition. RNA interference (RNAi) one powerful approach to inhibit , and we previously described RNAi therapy achieve silencing FSHD cells mice using engineered microRNAs. Here report strategy direct against natural microRNA miR-675 which derived from lncRNA H19 . Human inhibits expression...
To report cases of severe congenital myopathy in patients with novel CACNA1S splice site pathogenic variants, highlighting their potentially favorable clinical outcomes.
This review describes the clinical, laboratory, and electrodiagnostic characteristics of a cohort patients with anti-Ku myositis.