Telethon Institute Of Genetics And Medicine

Recent papers from Telethon Institute Of Genetics And Medicine

1. TensorPLS: an R package for exploring molecular and temporal patterns in longitudinal omics data using PLS-DA2026
2. Metabolic exhaustion underlies sarcopenic obesity susceptibility in aging mice as revealed by multi-omics factor analysisiScience · 2026
3. Single-vector AAV delivery of En-ISPmu1 and donor DNA for in vivo targeted genome integration2026
4. Metabolic exhaustion underlies sarcopenic obesity susceptibility in aging mice as revealed by multi-omics factor analysisiScience · 2026
5. Von Willebrand factor a domain containing 8 (VWA8) is a mitochondria–ER spacer that restrains β-adrenergic–induced cardiac hypertrophyEuropean Heart Journal · 2026
6. Revisiting Inherited Metabolic Diseases ( IMDs ) Through the Lens of Selective AutophagyJournal of Inherited Metabolic Disease · 2026
7. Genotype-phenotype single-cell transcriptomics for massive parallel assessment of genetic variantsNature Communications · 2026
8. S -Nitrosylation of glycogen phosphorylase regulates nuclear glycogenolysis and is impaired in metabolic liver disordersScience Advances · 2026
9. Polymeric alpha-1 antitrypsin perturbs Paneth cell proteostasis and exacerbates intestinal inflammationSignal Transduction and Targeted Therapy · 2026
10. Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type IThe American Journal of Human Genetics · 2026
11. Pseudomonas aeruginosa induces the generation of pathogenic IFNγ+Th17 cells that promote lung damage and chronic inflammation in cystic fibrosisNature Microbiology · 2026
12. mTORC1-TFEB/TFE3 signaling is associated with bile acid diversification during hepatic metabolic adaptationScience Advances · 2026
13. Pharmacological inhibitors of the nonsense-mediated RNA decay identified by high-throughput screeningRNA · 2026
14. Functional specialization of the hippocampus along its dorso–ventral axis: from span to supraspan in memory capacityBehavioral and Brain Functions · 2026
15. Addressing the Limits of Emx2 Therapy of Glioblastoma Multiforme by Transgene Insulation and Epigenetic Pharmacological InterventionBiomedicines · 2026
16. Dengue virus serotype classification from complete genomes using a Transformer with chunk-based sequence modeling and explainability analysisScientific Reports · 2026
17. Targeted insertion of an optimized donor DNA is effective in a humanized mouse model of dominant retinitis pigmentosaCell Reports Medicine · 2026
18. Label-free nucleoli measurement by 3D holo-tomographic flow cytometry using biolens phase compensationAdvanced Photonics · 2026
19. TRPV4-driven ATP release activates CFTR through ADORA2B and P2RY2 receptors in the airway epitheliumiScience · 2026
20. Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart DefectsAmerican Journal of Medical Genetics Part A · 2026