Génétique, Génomique Fonctionnelle et Biotechnologies

Recent papers from Génétique, Génomique Fonctionnelle et Biotechnologies

1. Comprehensive prospective investigation of splicing variants in the coding region of RHD : Insights into phenotypic consequences including revision of RHD * weak D type 3British Journal of Haematology · 2026
2. Triskellines A (3,6,8-Trisubstituted [1,2,4]triazolo[4,3- b ]pyridazines) as Potent Antagonists of Human Adenosine Receptor A3Journal of Medicinal Chemistry · 2026
3. Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics ( GFCH )American Journal of Hematology · 2026
4. A CCNA1 Missense Variant Associated With Chromatid Non‐Disjunction in Abnormal‐Headed Sperm and Male InfertilityAndrology · 2026
5. Combining Gene Therapy with Current Modulator Treatments for Cystic Fibrosis: A Promising Area of ResearchPharmaceutics · 2026
6. Neuro–immune dysregulation after traumatic brain injury: immunomodulatory strategies to prevent infectious complicationsFrontiers in Molecular Neuroscience · 2026
7. Clinical evaluation of the SeptiScore biomarker for the diagnosis of healthcare-associated infections in critically ill trauma patients: a multicenter derivation and validation cohort studyBMC Anesthesiology · 2026
8. Primary hyperoxaluria type 1—current practice in the siRNA era: an ERA Genes & Kidney Working Group surveyClinical Kidney Journal · 2026
9. Shedding light on direct and indirect effects of antimicrobial photodynamic therapy: A review updateBiomedicine & Pharmacotherapy · 2026
10. A disrupted microbial network and an ecological shift towards anaerobes in NTM-infected cystic fibrosis patientsJournal of Cystic Fibrosis · 2026
11. Negative Xpert HPV Test (Cepheid) With Late Amplification Signals: Is There a Clinical Significance? (the PaPCR Study)Journal of Medical Virology · 2026
12. When splicing is not all or none: GT>GC 5′ splice-site variants as a model for intermediate effects and challenges in variant classificationHuman Genetics and Genomics Advances · 2026
13. Sequencing depth overcomes extraction bias: repurposing human WGS data for salivary microbiome profiling2026
14. Structural Conservation of the A ₁ Binding Site in Photosystem I across Cyanobacteria and Green AlgaeACS Omega · 2026
15. A novel JK ‐null allele due to splicing variantTransfusion · 2026
16. Identification of the novel c.149‐ 8C >G splicing variant in RHCE*02 that weakens C antigen expressionTransfusion · 2026
17. Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public networkAnnales d Endocrinologie · 2026
18. A novel RHCE*cE689C allele ( p.Ser230Thr ) in 2 donors of European ancestry with discrepant E antigen typingTransfusion · 2026
19. Functional investigation of the RHD gene promoter: Molecular changes are rarely responsible for variant D phenotype in Thai donorsTransfusion · 2026
20. Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-upEuropean Journal of Human Genetics · 2026