Publications by authors named "W C Skarnes"
Background/objectives: Strabismus is the most common ocular disorder of childhood. Three rare, recurrent genetic duplications have been associated with both esotropia and exotropia, but the mechanisms by which they contribute to strabismus are unknown. This work aims to investigate the mechanisms of the smallest of the three, a 23 kb duplication on chromosome 4 (hg38|4:25,554,985-25,578,843).
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- Neuronal hyperexcitability is a key feature of epilepsy, influenced by microglia, the brain's immune cells, which can affect neuronal activity.
- Researchers developed a co-culture model using human induced pluripotent stem cell (hiPSC)-derived neurons with a genetic mutation (Nav1.2-L1342P) linked to epilepsy and observed that microglia can reduce excitability in these neurons.
- The study found that microglia increased their branching and calcium signaling when interacting with affected neurons, ultimately lowering sodium channel activity and glutamate release, highlighting their role in managing hyperexcitability caused by epilepsy-related genetic mutations.
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- The International Mouse Phenotyping Consortium (IMPC) creates and studies mouse lines with specific gene mutations to better understand gene functions, using advanced techniques such as the Cas9 nuclease for enhanced efficiency.
- The IMPC has produced 3313 knockout mouse lines, allowing for a comprehensive analysis of factors that influence successful gene editing in living organisms.
- The research highlights that the essentiality of genes significantly affects the success rates in producing null alleles, and offers best practice guidelines for using Cas9 in gene engineering linked to human diseases.
Article Synopsis
- Microglia, immune cells in the brain, are key players in neurodegenerative diseases, but the exact reasons for their dysfunction are still not fully understood.
- This study focuses on microglia-like cells derived from human stem cells with mutations in the PFN1 gene linked to ALS, revealing significant metabolic and functional impairments, such as lipid dysregulation and poor phagocytosis.
- The research suggests that the mutated PFN1 gene may lead to toxic effects in important cellular processes, but treatment with rapamycin can improve the disturbed functions in these cells, highlighting their potential in studying neurodegenerative diseases.