Publications by authors named "David Coote"
Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia in the 1960s and 1970s. The most prominent feature of the disease is a distinctive gait with stiffness of the hind limbs that can be seen as early as 3 weeks after birth. The disease is progressive.
View Article and Find Full Text PDFBackground: UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological phenotypes have been associated with pathogenic variants including epilepsy, intellectual disability, movement disorders and ataxia.
Methods And Results: We describe a large multigenerational consanguineous family presenting with a severe congenital neuropathy causing early death in infancy.
Article Synopsis
- * In the project's first phase, researchers sequenced the whole genomes of 234 cattle, primarily from the Holstein-Friesian, Fleckvieh, and Jersey breeds, discovering 28.3 million genetic variants.
- * The study's findings include identifying mutations linked to embryonic death and lethal chondrodysplasia, as well as variants associated with milk production and curly coat traits in cattle through genome-wide association studies.