Publications by authors named "Elizabeth Esdaile"
Congenital stationary night blindness (CSNB) is an ocular disorder characterized by nyctalopia. An autosomal recessive missense mutation in glutamate metabotropic receptor 6 (GRM6 c.533C>T, p.
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- Globoid cell leukodystrophy (GCL) is a serious genetic disease in dogs caused by a problem in the GALC gene, affecting their nervous system.
- Researchers studied a family of puppies with GCL to find out more about a specific genetic change in the GALC gene and how common it is in other dog breeds.
- They discovered a new variant in the GALC gene that seems to be linked to GCL, but it was found very rarely in dogs outside of this family.
Coat color is a trait of economic significance in horses. Variants in seven genes have been documented to cause white patterning in horses. Of the 34 variants that have been identified in KIT proto-oncogene, receptor tyrosine kinase (), 27 have only been reported in a single individual or family and thus not all are routinely offered for genetic testing.
View Article and Find Full Text PDFAmerican Standardbreds were developed as a harness racing horse breed. The United States Trotting Association closed the studbook in 1973 and implemented a book size cap in 2009. This study aimed to investigate genetic diversity in the American Standardbred after the studbook cap was introduced using short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs).
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- The study aimed to replicate successful biobanking methods used on Thoroughbred mares, this time on two adult stallions under the FAANG initiative, involving comprehensive examinations before humane euthanasia.
- After euthanasia, various biological samples, including sperm, skin biopsies, and fluids, were collected and preserved for further research and analysis.
- Mild health abnormalities were identified in both stallions, and genomic resources from the samples will enhance equine genomic research, particularly in understanding tissue-specific gene regulation based on sex.