Publications by authors named "Cara Forster"

Foodborne diseases, especially those caused by zoonotic agents, pose a significant threat to human health. Food business operators are therefore responsible for producing safe food. To do this, they must regularly carry out appropriate sample investigations to detect zoonotic agents in their food before it leaves the factory.

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  • * Researchers found 23 specific changes in a gene related to this complex that affect 38 people, leading to problems with brain cell growth and learning in animals.
  • * By targeting certain stress response proteins, they discovered ways to help fix some of the immune issues caused by these disorders, leading to new ideas for treatments.
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  • Researchers found 15 new genetic variants in the PSMC3 gene, linked to a specific type of neurodevelopmental delay and intellectual disability in 23 unrelated patients.
  • Mouse and fruit fly experiments showed that these variants hindered normal neuron growth and learning abilities.
  • The variants were shown to disrupt proteasome function, leading to cellular stress and abnormal immune responses, suggesting a connection between proteasome issues and neurodevelopmental disorders.
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  • * In a study of 20 individuals with harmful mutations in MORC2, symptoms included developmental delay, intellectual disability, and physical growth issues, alongside signs of neuropathy, though neuropathy was not the main problem.
  • * The findings suggest that these genetic variants cause abnormal epigenetic silencing and expand the known disorders linked to MORC2, including specific brain imaging and eye exam abnormalities resembling Leigh syndrome.
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  • - SOX6 is part of a group of genes that encode transcription factors critical for controlling cell behavior during development, with involvement in processes like neurogenesis and skeletogenesis.
  • - Research identified 19 individuals from 17 different families with various alterations in the SOX6 gene, all displaying developmental delays and intellectual disabilities, along with other possible features like ADHD and autism.
  • - The study found that different types of genetic variants in SOX6, including deletions and missense changes, lead to its inactivation, suggesting that a lack of SOX6 function is linked to a specific neurodevelopmental disorder, though no direct genotype-phenotype relationships were established.
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