Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques

Recent papers from Institut des Cellules Souches pour le Traitement et l'Étude des Maladies Monogéniques

1. Bridging the translational gap in drug repurposing for rare diseases: clinical success versus regulatory conversionDrug Discovery Today · 2026
2. An isogenic hiPSC-derived keratinocyte model reveals CXCL10/CXCL11 inflammatory dysregulation in epidermolysis bullosa simplexFrontiers in Cell and Developmental Biology · 2026
3. Generation of two iPSC lines carrying two cystic fibrosis rare intronic mutations c.1585-1G>A and c.1680-886A>G in the CFTR gene of the parental line PCIi033-A using CRISPR/Cas toolsStem Cell Research · 2026
4. Haloperidol induces neuroprotection and enhances neuromuscular function in both murine and human models of spinal muscular atrophyExperimental & Molecular Medicine · 2026
5. Surface and internal microstructure driven fatigue crack propagation from artificial defects in Laser Powder Bed Fusion Inconel 718International Journal of Fatigue · 2026
6. CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR geneStem Cell Research · 2026
7. Placental Extracellular Vesicles Exhibit Reduced Neurogenic Potential Linked to Changes in Their miRNA Landscape Upon HCMV InfectionJournal of Extracellular Biology · 2026
8. Knock-out of specific DMD gene isoforms in the parental hESC line SA001 using CRISPR/Cas9Stem Cell Research · 2025
9. Role of innate immune and inflammatory signaling in West Nile virus tropism and neuronal and glial cell deathScientific Reports · 2025
10. Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1Journal of Cachexia Sarcopenia and Muscle · 2025
11. Lipid transfer by ORP3 is required for the regulation of PI4P and PI(4,5)P2 at the plasma membrane in mitosis2025
12. Role of Innate Immune and Inflammatory Signaling in West Nile Virus Tropism and Neuronal and Glial Cell Death2025
13. Generation of three iPSC lines from patients with CACNA1S related congenital myopathyStem Cell Research · 2025
14. Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type IIStem Cell Research · 2025
15. Perineural delivery of AAV2/9 in non-human primates is a safe and efficient route for gene therapy in Charcot-Marie-Tooth diseasesMolecular Therapy — Methods & Clinical Development · 2025
16. Targeting membrane fragility in LGMD R2 through pharmacological autophagy induction2025
17. Lonafarnib Partially Reverses Cardiac Senescence in Human and Mouse Progeria Models via Autophagy Activation2025
18. Engineered micro-structured biomimetic material for modelling the outer blood-retinal barrierBiomaterials · 2025
19. DYRK1A roles in human neural progenitorsFrontiers in Neuroscience · 2025
20. Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal DysplasiaInternational Journal of Molecular Sciences · 2025