302: SMN1/SMN2 splicing and last-exon mechanisms — Tribute to Brunhilde Wirth
The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof. Dr. Brunhilde Wirth - Special tribute episode honoring Prof. Dr. Brunhilde Wirth and synthesizing recurring themes acr...
26 Feb 24min
301: Biobank Mendelian randomization prioritizes 6,447 genes and nominates ANXA2 for dyslipidemia
Ferolito BR et al., Human Genetics and Genomics Advances, 7 (2026) 100556. doi:10.1016/j.xhgg.2025.100556 - Meta-analysis of MVP, UK Biobank and FinnGen with Mendelian randomization using eQTL/pQTL in...
25 Feb 20min
300: Population-scale WGS links MHC class II antigen presentation to persistent Epstein–Barr virus (EBV) DNA
Nyeo SS et al., Nature, doi:10.1038/s41586-025-10020-2 - Population-scale WGS reanalysis quantifies persistent EBV DNA and shows MHC class II–mediated antigen presentation predicts EBV DNAemia and lin...
24 Feb 21min
299: UFM1 loss and R81C mutation disrupt neuronal translation, ER stress, and synaptogenesis
Perdigão C et al., EMBO Molecular Medicine, doi:10.1038/s44321-026-00389-6 - In mouse neurons, UFM1 loss or UFM1-R81C expression reduces protein translation, triggers ER stress and PERK activation, im...
24 Feb 21min
298: Bi-allelic FSD1L variants in retinitis pigmentosa implicate photoreceptor axoneme
Lin S et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.015 - Bi-allelic FSD1L variants cause retinitis pigmentosa; FSD1L localizes to the photoreceptor axone...
24 Feb 20min
297: Bi-allelic FSD1L variants disrupt mitotic spindle and ciliogenesis in an L1-like neurodevelopmental disorder
Serpieri V et al., The American Journal of Human Genetics, Corrected proof. doi:10.1016/j.ajhg.2026.01.014 - Bi-allelic FSD1L variants disrupt a microtubule-associated protein, causing hydrocephalus, ...
24 Feb 21min
296: snaR-A ncRNA antagonizes U2 snRNP SF3B2 to drive intron retention in human cells
Zhou S et al., Nature Communications, doi:10.1038/s41467-025-65448-x - snaR-A noncoding RNA interacts with U2 snRNP subunit SF3B2 and nuclear speckles, increasing intron retention and promoting prolif...
21 Feb 20min
295: CFTR deltaF508 and CF-risk variants protect against IBD in large exome study
Yu M et al., Cell Genomics, 6 (2026) 101071. doi:10.1016/j.xgen.2025.101071 - Large-scale exome sequencing shows CFTR risk variants, including deltaF508, reduce susceptibility to inflammatory bowel di...
19 Feb 28min
