Publications by authors named "P Moulin"
Mobile elements (ME) can transpose by copy-and-paste mechanisms. A heterozygous insertion in APOB exon 3 coding sequence was suspected in a patient with hypobetalipoproteinemia (HBL), by gel electrophoresis of the PCR products. An insertion of a 85 bp fragment flanked by a polyA stretch and a target replication site duplication was identified as a ME insertion (MEI) from the AluYa5 subfamily, NM_000384.
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- PCSK9 is crucial for regulating LDL-cholesterol and certain variants, like p.Ser127Arg, lead to higher cholesterol levels and are mainly found in France, with few in South Africa and Norway due to a common ancestor effect.
- The study analyzed 14 p.Ser127Arg carriers from eight families and compared them with other variants to understand their genetic background and health impact.
- Results indicated that the common ancestor lived about 775 years ago, and carriers of p.Ser127Arg had significantly higher LDL-C levels, suggesting it may have a stronger effect on cholesterol levels compared to other mutations.
Reverse osmosis membranes are intended to constitute a complete physical barrier against nanometric-sized pathogens such as enteric viruses. Literature describes that low-pressure reverse osmosis achieves high viral removal rates (above 5 log), surpassing those of ultrafiltration (1 to 3 log). However, these studies often used individual viruses and high feed viral concentrations (above 10 virus L), greater than typical viral concentrations present in the environment like groundwater, to promote virus detection in the permeate.
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- A weakly supervised AI model called Triagnexia Colorectal was created to detect abnormal colorectal histology, like dysplasia and cancer, and prioritize biopsies based on clinical importance.
- The model was trained on nearly 25,000 digitized images and evaluated by multiple pathologists, offering a user-friendly interface to enhance decision-making in digital pathology.
- Validation results show high accuracy for the AI model, with impressive specificity and sensitivity scores, which pathologists found beneficial for detecting and prioritizing abnormal colorectal cases.
Progression of cystic kidney disease has been linked to activation of the mTORC1 signaling pathway. Yet the utility of mTORC1 inhibitors to treat patients with polycystic kidney disease remains controversial despite promising preclinical data. To define the cell intrinsic role of mTORC1 for cyst development, the mTORC1 subunit gene Raptor was selectively inactivated in kidney tubular cells lacking cilia due to simultaneous deletion of the kinesin family member gene Kif3A.
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