Structure fédérative de recherche Necker

Recent papers from Structure fédérative de recherche Necker

1. Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasisGenome Medicine · 2026
2. Single-Cell Multimodal Profiling Reveals Maternal Diabetes- Nkx2-5 Interaction in Congenital Heart Disease in a Genetic Model Recapitulating Human Embryopathies2026
3. The mitochondrial unfolded protein response in human microglia disrupts neuronal–glial communication and promotes senescenceNature Neuroscience · 2026
4. Acellular therapeutic approach for heart failure: in vitro production of extracellular vesicles from human cardiovascular progenitorsEuropean Heart Journal · 2018
5. Developmental switch dichotomizes kidney response to Nphp3 inactivation and treatment outcome2026
6. Haemodynamic stress-induced breaches of the arterial intima trigger inflammation and drive atherogenesisEuropean Heart Journal · 2018
7. Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial diseaseHuman Genetics and Genomics Advances · 2026
8. The lipid transfer protein STARD7 controls intestinal tumor development in a context-dependent mannerEMBO Molecular Medicine · 2026
9. Lysosomal phosphoinositide turnover acts upstream of RagGTPase–mTORC1 and controls muscle growthNature Metabolism · 2026
10. Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis2026
11. An unusual case of RIPK1-related immunodeficiency: The importance of a timely diagnosis for a novel clinical and therapeutic pattern.2026
12. VAMP7-dependent late endosomal secretion of ER and mitochondrial proteins impacts the tumor microenvironment and macrophage engagementNature Communications · 2026
13. Proteomics reveals altered lipid biosynthesis and keratin hyperphosphorylation in pachyonychia congenitaJournal of Investigative Dermatology · 2026
14. Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndromeJCI Insight · 2025
15. Dynamics of the transcriptomic landscape of OsHV-1 replication in haemocytes of the Pacific oyster (Magallana gigas)Journal of General Virology · 2025
16. The extracellular matrix drives guanylate production and protects pancreatic cancer cells from oxaliplatin-induced DNA damageScience Advances · 2025
17. MMS22L is a novel key actor of normal and pathological erythropoiesisHemaSphere · 2025
18. Base editing of β ⁰ -thalassemia mutations as a therapeutic strategy for severe β-hemoglobinopathiesScience Translational Medicine · 2025
19. An islet-resident macrophage antioxidant program preserves β cell physiologyScience Immunology · 2025
20. A Computational Multinephron Model for Small-Scale Preclinical Renal Dosimetry in Radiopharmaceutical TherapyJournal of Nuclear Medicine · 2025