Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy
(2017)
Journal Article
Nghiem, P. P., Bello, L., Balog-Alvarez, C., López, S. M., Bettis, A., Barnett, H., …Kornegay, J. N. (2017). Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy. Mammalian Genome, 28(3), 106-113. https://doi.org/10.1007/s00335-016-9675-2
All Outputs (83)
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems (2017)
Journal Article
Walmsley, G. L., Blott, S., Venner, K., Sewry, C., Laport, J., Blondelle, J., …Piercy, R. J. (2017). Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. American Journal of Pathology, 187(2), 441-456. https://doi.org/10.1016/j.ajpath.2016.10.002Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated m... Read More about Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase (2017)
Journal Article
Maile, C. A., Hingst, J. R., Mahalingan, K. K., O'Reilly, A. O., Cleasby, M. E., Mickelson, J. R., …Piercy, R. J. (2017). A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. https://doi.org/10.1016/j.bbagen.2016.08.021
Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis (2016)
Journal Article
Scalco, R. S., Voermans, N. C., Piercy, R. J., Jungbluth, H., & Quinlivan, R. (2016). Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis. European Journal of Neurology, 23(8), e56-e57. https://doi.org/10.1111/ene.13051
Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal (2016)
Journal Article
Molenaar, F. M., Piercy, R. J., Dunkel, B., Manning, N., English, K., Stidworthy, M., & Masters, N. J. (2016). Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal. https://doi.org/10.19227/jzar.v4i2.156One of the 172 UK cases of equine atypical myopathy (EAM) reported to the Atypical Myopathy Alert Group (AMAG) in 2014 was that of a five-month old male Przewalski horse (Equus ferus przewalskii), resident at ZSL Whipsnade Zoo, UK. The foal presented... Read More about Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal.
Ultrasonography detects early laryngeal muscle atrophy in an equine neurectomy model (2016)
Journal Article
Chalmers, H. J., Caswell, J., Perkins, J. D. M., Goodwin, D., Viel, L., Ducharme, N. G., & Piercy, R. J. (2016). Ultrasonography detects early laryngeal muscle atrophy in an equine neurectomy model. Muscle & Nerve, 53(4), 583-592. https://doi.org/10.1002/mus.24785
Effects of Functional Electrical Stimulation on Denervated Laryngeal Muscle in a Large Animal Model (2015)
Journal Article
Cheetham, J., Perkins, J. D. M., Jarvis, J. C., Cercone, M., Maw, M., Hermanson, J. W., …Ducharme, N. G. (2015). Effects of Functional Electrical Stimulation on Denervated Laryngeal Muscle in a Large Animal Model. Artificial Organs, 39(10), 876-885. https://doi.org/10.1111/aor.12624Bilateral vocal fold paralysis (BVCP) is a life‐threatening condition that follows injury to the Recurrent Laryngeal nerve (RLn) and denervation of the intrinsic laryngeal musculature. Functional electrical stimulation (FES) enables restoration and c... Read More about Effects of Functional Electrical Stimulation on Denervated Laryngeal Muscle in a Large Animal Model.
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth (2015)
Journal Article
Blondelle, J., Ohno, Y., Gache, V., Guyot, S., Storck, S., Blanchard-Gutton, N., …Pilot-Storck, F. (2015). HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth. Journal of Molecular Cell Biology, 7(5), 429-440. https://doi.org/10.1093/jmcb/mjv049The reduced diameter of skeletal myofibres is a hallmark of several congenital myopathies, yet the underlying cellular and molecular mechanisms remain elusive. In this study, we investigate the role of HACD1/PTPLA, which is involved in the elongation... Read More about HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes (2014)
Journal Article
Fernandez-Fuente, M., Terracciano, C. M., Martin-Duque, P., Brown, S. C., Vassaux, G., & Piercy, R. J. (2014). Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes. PLoS ONE, 9(8), e105971. https://doi.org/10.1371/journal.pone.0105971Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malig... Read More about Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes.
Adenovirus-mediated expression of Myogenic Differentiation Factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes (2014)
Journal Article
Fernandez-Fuente, M., Martin-Duque, P., Vassaux, G., Brown, S. C., Muntoni, F., Terracciano, C. M., & Piercy, R. J. (2014). Adenovirus-mediated expression of Myogenic Differentiation Factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes. Neuromuscular Disorders, 24(3), 250-258. https://doi.org/10.1016/j.nmd.2013.11.009Several human and animal myopathies, such as malignant hyperthermia (MH), central core disease and equine recurrent exertional rhabdomyolysis (RER) are confirmed or thought to be associated with dysfunction of skeletal muscle calcium regulation. For... Read More about Adenovirus-mediated expression of Myogenic Differentiation Factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes.
Genetic Diversity in the Modern Horse Illustrated from Genome-Wide SNP Data (2013)
Journal Article
Petersen, J. L., Mickelson, J. R., Cothran, E. G., Andersson, L. S., Axelsson, J., Bailey, E., …McCue, M. E. (2013). Genetic Diversity in the Modern Horse Illustrated from Genome-Wide SNP Data. PLoS ONE, 8(1), e54997. https://doi.org/10.1371/journal.pone.0054997
Genome-Wide Analysis Reveals Selection for Important Traits in Domestic Horse Breeds (2013)
Journal Article
Petersen, J. L., Mickelson, J. R., Rendahl, A. K., Valberg, S. J., Andersson, L. S., Axelsson, J., …McCue, M. E. (2013). Genome-Wide Analysis Reveals Selection for Important Traits in Domestic Horse Breeds. PLoS Genetics, 9(1), e1003211. https://doi.org/10.1371/journal.pgen.1003211Intense selective pressures applied over short evolutionary time have resulted in homogeneity within, but substantial variation among, horse breeds. Utilizing this population structure, 744 individuals from 33 breeds, and a 54,000 SNP genotyping arra... Read More about Genome-Wide Analysis Reveals Selection for Important Traits in Domestic Horse Breeds.
The 3D anatomy of the cervical articular process joints in the horse and their topographical relationship to the spinal cord
Journal Article
Claridge, H. A. H., Piercy, R. J., Parry, A., & Weller, R. The 3D anatomy of the cervical articular process joints in the horse and their topographical relationship to the spinal cord. Equine Veterinary Journal, 42(8), 726-731. https://doi.org/10.1111/j.2042-3306.2010.00114.x
Novel diabetes mellitus treatment: mature canine insulin production by canine striated muscle through gene therapy
Journal Article
Niessen, S. J. M., Fernandez-Fuente, M., Mahmoud, A., Campbell, S. C., Aldibbiat, A., Huggins, C., …Church, D. B. Novel diabetes mellitus treatment: mature canine insulin production by canine striated muscle through gene therapy. Domestic Animal Endocrinology, 43(1), 16-25. https://doi.org/10.1016/j.domaniend.2012.01.006
Hydranencephaly in a foal
Journal Article
Baiker, K., Saunders, N., Summers, B. A., Piercy, R. J., & Smith, K. C. Hydranencephaly in a foal. Equine Veterinary Education, 22(12), 593-598. https://doi.org/10.1111/j.2042-3292.2010.00123.x
Multiple immunofluorescence labelling enables simultaneous identification of all mature fibre types in a single equine skeletal muscle cryosection
Journal Article
Tulloch, L. K., Perkins, J. D. M., & Piercy, R. J. Multiple immunofluorescence labelling enables simultaneous identification of all mature fibre types in a single equine skeletal muscle cryosection. Equine Veterinary Journal, 43(4), 500-503. https://doi.org/10.1111/j.2042-3306.2010.00329.x
Borna disease virus infection of a horse in Great Britain
Journal Article
Priestnall, S. L., Schoeniger, S. J., Ivens, P. A. S., Eickmann, M., Brachthauser, L., Kehr, K., …Herden, C. Borna disease virus infection of a horse in Great Britain. Veterinary Record, 168(14), 380-U58. https://doi.org/10.1136/vr.c6405
In Vitro Effect of Ventriculocordectomy Before Laryngoplasty on Abduction of the Equine Arytenoid Cartilage
Journal Article
Perkins, J. D. M., Meighan, H., Windley, Z., Troester, S., Piercy, R. J., & Schumacher, J. In Vitro Effect of Ventriculocordectomy Before Laryngoplasty on Abduction of the Equine Arytenoid Cartilage. Veterinary Surgery, 40(3), 305-310. https://doi.org/10.1111/j.1532-950X.2011.00796.x
European outbreaks of atypical myopathy in grazing horses (2006-2009): Determination of indicators for risk and prognostic factors
Journal Article
van Galen, G., Saegerman, C., Pitel, C. M., Patarin, F., Amory, H., Baily, J. D., …Votion, D. M. European outbreaks of atypical myopathy in grazing horses (2006-2009): Determination of indicators for risk and prognostic factors. Equine Veterinary Journal, 44(5), 621-625. https://doi.org/10.1111/j.2042-3306.2012.00555.x
DOES RESTING LARYNGOSCOPY ACCURATELY PREDICT SEVERITY OF MUSCLE HISTOPATHOLOGY IN EQUINE RECURRENT LARYNGEAL NEUROPATHY?
Journal Article
Tulloch, L. K., Perkins, J. D. M., & Piercy, R. J. DOES RESTING LARYNGOSCOPY ACCURATELY PREDICT SEVERITY OF MUSCLE HISTOPATHOLOGY IN EQUINE RECURRENT LARYNGEAL NEUROPATHY?. Neuromuscular Disorders, 22, S14-S14