Publications by authors named "I Roux"
Purpose: To evaluate if morphology and morphokinetics of cleaved embryos affect prenatal and perinatal outcomes.
Methods: This retrospective cohort study included 734 single fresh embryo transfer (SET) from ICSI from January 2014 to December 2020 at the Dijon University Hospital. Using time-lapse technology, embryos were defined as TOP or non-TOP according to morphological/morphokinetic criteria.
Article Synopsis
- Decreased activity of the SLC26A4 protein, critical for ear fluid balance, is linked to hearing loss.
- Researchers found that the μ2 subunit of the AP-2 complex plays a key role in controlling SLC26A4's presence at the cell membrane where it helps reabsorb endolymph in the inner ear.
- By blocking clathrin-mediated endocytosis, they showed that more SLC26A4 accumulates on cell surfaces, suggesting that the SLC26A4-μ2 interaction directly influences how much SLC26A4 is available where it’s needed.
Episomal AMA1-based plasmids are increasingly used for expressing biosynthetic pathways and CRISPR/Cas systems in filamentous fungi cell factories due to their high transformation efficiency and multicopy nature. However, the gene expression from AMA1 plasmids has been observed to be highly heterogeneous in growing mycelia. To overcome this limitation, here we developed next-generation AMA1-based plasmids that ensure homogeneous and strong expression.
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- Mutations in the TBC1D24 gene are linked to various conditions like deafness, epilepsy, and DOORS syndrome, but how these mutations lead to different health issues is still unclear.
- Researchers conducted a study to identify new protein partners of TBC1D24 and discovered that it interacts with KIBRA, a scaffold protein involved in cognitive functions and the Hippo signaling pathway.
- Specific mutations in the TLDc domain of TBC1D24 can disrupt its interaction with KIBRA, revealing a potential link between TBC1D24 and epilepsy, suggesting that this interaction is crucial for reducing epilepsy risk.
Cortical malformations such as focal cortical dysplasia type II (FCDII) are associated with pediatric drug-resistant epilepsy that necessitates neurosurgery. FCDII results from somatic mosaicism due to post-zygotic mutations in genes of the PI3K-AKT-mTOR pathway, which produce a subset of dysmorphic cells clustered within healthy brain tissue. Here we show a correlation between epileptiform activity in acute cortical slices obtained from human surgical FCDII brain tissues and the density of dysmorphic neurons.
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