Publications by authors named "J Vilotte"

Article Synopsis
  • Congenital microcoria (MCOR) is a rare genetic condition linked to issues like severe nearsightedness and glaucoma, caused by changes in a specific chromosome region.
  • Researchers developed a 3D model of chromosome 13q32.1, showing how deletions disrupt important genetic boundaries, leading to altered gene expression that affects iris development.
  • The study also identified a connection between SOX21 and the TGFB2 gene, highlighting their roles in eye development and conditions like glaucoma and myopia, which impact a large population.
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Azoospermia (the complete absence of spermatozoa in the semen) is a common cause of male infertility. The etiology of azoospermia is poorly understood. Whole-genome analysis of azoospermic men has identified a number of candidate genes, such as the X-linked testis-expressed 11 (TEX11) gene.

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The recent emergence of chronic wasting disease (CWD) in Europe has become a new public health risk for monitoring of wild and farmed cervids. This disease, due to prions, has proliferated in North America in a contagious manner. In several mammalian species, polymorphisms in the prion protein gene (PRNP) play a crucial role in the susceptibility to prions and their spread.

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Background: Atypical/Nor98 scrapie (AS) is an idiopathic infectious prion disease affecting sheep and goats. Recent findings suggest that zoonotic prions from classical bovine spongiform encephalopathy (C-BSE) may copropagate with atypical/Nor98 prions in AS sheep brains. Investigating the risk AS poses to humans is crucial.

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The biomedical research community addresses reproducibility challenges in animal studies through standardized nomenclature, improved experimental design, transparent reporting, data sharing, and centralized repositories. The ARRIVE guidelines outline documentation standards for laboratory animals in experiments, but genetic information is often incomplete. To remedy this, we propose the Laboratory Animal Genetic Reporting (LAG-R) framework.

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