VCF Files
(2021)
Dataset
Pollott, G., Wathes, D. C., Piercy, R., Massey, C., Salavati, M., & Cheng, Z. VCF Files. [Dataset]
All Outputs (9)
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy (2018)
Journal Article
Amoasii, L., Hildyard, J. C. W., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., …Olson, E. N. (2018). Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Science, 362(6410), 86-91. https://doi.org/10.1126/science.aau1549Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD g... Read More about Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy.
Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy
Journal Article
Hildyard, J. C. W., Taylor-Brown, F. E., Massey, C., Wells, D. J., & Piercy, R. J. (in press). Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy. Journal of Neuromuscular Diseases, 5(2), 177-191. https://doi.org/10.3233/JND-170267Background:Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches t... Read More about Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy.
CHARACTERISING THE SKELETAL MUSCLE HISTOLOGICAL PHENOTYPE OF THE DELTAE50-MD DOG, A PRECLINICAL MODEL OF DUCHENNE MUSCULAR DYSTROPHY
Journal Article
Hildyard, J. C. W., Rawson, F., Harron, R., Riddell, D., Massey, C. A., Taylor-Brown, F. E., …Piercy, R. J. CHARACTERISING THE SKELETAL MUSCLE HISTOLOGICAL PHENOTYPE OF THE DELTAE50-MD DOG, A PRECLINICAL MODEL OF DUCHENNE MUSCULAR DYSTROPHY. Neuromuscular Disorders, 28, S18. https://doi.org/10.1016/S0960-8966%2818%2930342-0
Severe Systemic Calciphylaxis in a Young Cat
Journal Article
Anfinsen, K. P., Piercy, R. J., Massey, C. A., Smith, K. C., Kenny, P. J., & Garden, O. A. (in press). Severe Systemic Calciphylaxis in a Young Cat. Journal of Veterinary Internal Medicine, 28(4), 1325-30. https://doi.org/10.1111/jvim.12378
Vacuolar myopathy in an adult Warmblood horse
Journal Article
Massey, C. A., Walmsley, G. L., Gliddon, T. P., & Piercy, R. J. Vacuolar myopathy in an adult Warmblood horse. Neuromuscular Disorders, 23(6), 473-477. https://doi.org/10.1016/j.nmd.2013.03.007
Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1)
Journal Article
Naylor, R. J., Livesey, L., Schumacher, J., Henke, N., Massey, C. A., Brock, K. V., …Piercy, R. J. (in press). Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1). PLoS ONE, 7(7), e42317. https://doi.org/10.1371/journal.pone.0042317Equine type 1 polysaccharide storage myopathy (PSSM1), a common glycogenosis associated with an R309H founder mutation in the glycogen synthase 1 gene (GYS1), shares pathological features with several human myopathies. In common with related human di... Read More about Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1).
INFLUENCE OF ALLELE COPY NUMBER ON SKELETAL MUSCLE HISTOPATHOLOGY IN HORSES WITH TYPE 1 POLYSACCHARIDE STORAGE MYOPATHY
Journal Article
Naylor, R. J., Johnstone, S., Livesey, L., Schumacher, J., Fuentes, V. L., Massey, C. A., …Piercy, R. J. INFLUENCE OF ALLELE COPY NUMBER ON SKELETAL MUSCLE HISTOPATHOLOGY IN HORSES WITH TYPE 1 POLYSACCHARIDE STORAGE MYOPATHY. Journal of Veterinary Internal Medicine, 25(3), 661-661
Epidemiology of Exertional Rhabdomyolysis Susceptibility in Standardbred Horses Reveals Associated Risk Factors and Underlying Enhanced Performance
Journal Article
Isgren, C. M., Upjohn, M. J., Fernandez-Fuente, M., Massey, C. A., Pollott, G. E., Verheyen, K. L. P., & Piercy, R. J. Epidemiology of Exertional Rhabdomyolysis Susceptibility in Standardbred Horses Reveals Associated Risk Factors and Underlying Enhanced Performance. PLoS ONE, 5(7), e11594. https://doi.org/10.1371/journal.pone.0011594