358: CHCHD4 and a Pediatric OXPHOS Collapse
Mantecon M et al., Human Genetics and Genomics Advances - This episode reviews a brief communication reporting a pediatric patient with biallelic CHCHD4 variants who presented with severe neurological...
5 Touko 25min
356: Recessive Coding Associations Across Six Biobanks
Lassen F et al., The American Journal of Human Genetics - Meta-analysis of up to 948,690 exome- or whole-genome-sequenced individuals across six biobanks used statistical phasing to infer compound-het...
3 Touko 22min
355: Influenza D replicates in the human airway — zoonotic risk
Sanders CG et al et al., PNAS - Surveillance-derived influenza D virus (IDV) isolates were tested across cell lines, primary airway cultures, and precision-cut lung slices to assess human compatibilit...
3 Touko 24min
354: How Cohesin Acetylation and ATPase Shape Chromatin Loops and Cohesion
Costantino L et al., PNAS - Costantino et al. dissect how Eco1-mediated acetylation of Smc3 (K112, K113) and cohesin ATPase activity separately regulate chromatin loop size, loop positioning, and sist...
30 Huhti 14min
353: Masculinization Reverses Sex Differences in Fertility
Schubert HA et al., PNAS - This episode reviews a global analysis showing that shifts in population sex composition have reversed historical sex gaps in fertility. Using UN World Population Prospects ...
30 Huhti 27min
352: Interspecies control of E. coli growth in human gut microbiomes
Boumasmoud M et al., PNAS - Reciprocal transplant experiments in anaerobic microcosms show that resident human gut microbiome context alters growth of introduced Escherichia coli strains and that micr...
27 Huhti 25min
351: When Selection Survives Admixture: Hard Sweeps in Ancient Eurasians
Harris M et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines a PNAS study that uses a domain-adaptive neural network to detect and classify selective sweeps in over ...
26 Huhti 24min
350: OPA1 A8S in Rhesus Macaques Models Autosomal Dominant Optic Atrophy
Jaggers TN et al et al., PNAS - A spontaneous OPA1 A8S missense mutation in rhesus macaques produces retinal ganglion cell loss, RNFL thinning, optic nerve atrophy, OPA1 mislocalization, and mitochond...
25 Huhti 25min
