Publications by authors named "C J Kay"
With the approval of the first retinal gene therapy, voretigene neparvovec [...
View Article and Find Full Text PDFThe early evolution of eukaryotes and their adaptations to low-oxygen environments are fascinating open questions in biology. Genome-scale data from novel eukaryotes, and particularly from free-living lineages, are the key to answering these questions. The Parabasalia are a major group of anaerobic eukaryotes that form the most speciose lineage of Metamonada.
View Article and Find Full Text PDFPurpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the CAG repeat modify disease onset. These variants are undetectable during HD genetic testing, resulting in inaccurate diagnostic reporting of uninterrupted CAG repeat length. Inaccurate reporting of CAG repeat length results in misdiagnosis of individuals with alleles near diagnostic cut-offs.
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- The study examines the impact of a high-fat diet combined with low-dose streptozotocin on inducing type-2 diabetes in male and female mice to understand sex differences in diabetes development.
- It found that while both sexes gained weight and showed impaired glucose tolerance, only male mice developed significant fasting hyperglycemia and insulin resistance, indicating distinct metabolic effects based on sex.
- The results suggest that existing models for studying type-2 diabetes, particularly the HF diet plus STZ method, are inadequate for females, highlighting the need for new approaches that account for sexual dimorphism in metabolic disease research.
Article Synopsis
- The study aims to evaluate how functional and structural assessments can serve as endpoints in clinical trials for retinal degeneration linked to USH2A mutations.
- Participants with specific visual capabilities underwent various eye tests over four years, focusing on understanding changes in their vision.
- Findings indicated that certain tests were more sensitive to detecting changes, influencing the design of future clinical trials related to this condition.