Zobrazeno 1 - 10
of 26
pro vyhledávání: '"J R, Mickelson"'
Autor:
S. A. Durward-Akhurst, J. L. Marlowe, R. J. Schaefer, K. Springer, B. Grantham, W. K. Carey, R. R. Bellone, J. R. Mickelson, M. E. McCue
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-17 (2024)
Abstract Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant conse
Externí odkaz:
https://doaj.org/article/61fc3546b2a54d05af17c390a479ce64
Autor:
S. A. Durward-Akhurst, R. J. Schaefer, B. Grantham, W. K. Carey, J. R. Mickelson, M. E. McCue
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Genetic variation is a key contributor to health and disease. Understanding the link between an individual’s genotype and the corresponding phenotype is a major goal of medical genetics. Whole genome sequencing (WGS) within and across populations e
Externí odkaz:
https://doaj.org/article/00b6cd5791364baa8128ea438ea8a068
Publikováno v:
Animal Genetics. 35:414-417
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bb1476552397c2ce0cfdccfe7d88264
https://doi.org/10.1111/j.1365-2052.2004.01174.x
https://doi.org/10.1111/j.1365-2052.2004.01174.x
Publikováno v:
Equine veterinary journal. 43(2)
Exertional rhabdomyolysis (ER) and its familial basis in Warmblood horses is incompletely understood.To describe the case details, clinical signs and management of ER-affected Warmblood horses from a family with a high prevalence of ER, to determine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::be0596069a449bb47a822b25ae740700
https://pubmed.ncbi.nlm.nih.gov/21592222
https://pubmed.ncbi.nlm.nih.gov/21592222
Autor:
M E, McCue, S M, Anderson, S J, Valberg, R J, Piercy, S Z, Barakzai, M M, Binns, O, Distl, M C T, Penedo, M L, Wagner, J R, Mickelson
Publikováno v:
Animal genetics. 41
The GYS1 gene mutation that is causative of Type 1 Polysaccharide Storage Myopathy (PSSM) has been identified in more than 20 breeds of horses. However, the GYS1 mutation frequency or Type 1 PSSM prevalence within any given breed is unknown. The purp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7021a5ebffc2cca958833be66702ea40
https://pubmed.ncbi.nlm.nih.gov/21070288
https://pubmed.ncbi.nlm.nih.gov/21070288
Autor:
M L, Wagner, S J, Valberg, E G, Ames, M M, Bauer, J A, Wiseman, M C T, Penedo, H, Kinde, B, Abbitt, J R, Mickelson
Publikováno v:
Journal of veterinary internal medicine. 20(5)
Glycogen Branching Enzyme Deficiency (GBED), a fatal condition recently identified in fetuses and neonatal foals of the Quarter Horse and Paint Horse lineages, is caused by a nonsense mutation in codon 34 of the GBE1 gene, which prevents the synthesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fe9a1fa9784b459a799bef34cb4fe556
https://pubmed.ncbi.nlm.nih.gov/17063718
https://pubmed.ncbi.nlm.nih.gov/17063718
Autor:
J R, Mickelson, J T, Wu, L Y, Morrison, J E, Swinburne, M M, Binns, K M, Reed, L J, Alexander
Publikováno v:
Animal genetics. 34(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::679b962924554dbfdfa1835f4049745c
https://pubmed.ncbi.nlm.nih.gov/12580794
https://pubmed.ncbi.nlm.nih.gov/12580794
Publikováno v:
Journal of veterinary internal medicine. 15(6)
Seven related Quarter Horse foals that died by 7 weeks of age were examined for glycogen branching enzyme (GBE) deficiency. Clinical signs varied from stillbirth, transient flexural limb deformities, seizures, and respiratory or cardiac failure to pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::68c98ee153bb98fe6ec82b1306b5f6d2
https://pubmed.ncbi.nlm.nih.gov/11817063
https://pubmed.ncbi.nlm.nih.gov/11817063
Publikováno v:
American journal of veterinary research. 60(8)
To determine whether abnormal regulation of muscle contraction similar to that associated with malignant hyperthermia (MH) was evident in intact external intercostal muscle cells from Thoroughbreds with recurrent exertional rhabdomyolysis (RER).5 adu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f87163c2e6c91a8bc1928355573b4d7a
https://pubmed.ncbi.nlm.nih.gov/10451211
https://pubmed.ncbi.nlm.nih.gov/10451211
Publikováno v:
American journal of veterinary research. 60(6)
To determine whether increased sensitivity to pharmacologic agents was a general property of equine exertional myopathies, including polysaccharide storage myopathy (PSSM) in Quarter Horses.5 adult Quarter Horses with exertional rhabdomyolysis and ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd86dd45d4f3310c07331afa00b47e1b
https://pubmed.ncbi.nlm.nih.gov/10376892
https://pubmed.ncbi.nlm.nih.gov/10376892