Base by Base
Base by Base explores advances in genetics and genomics, with a focus on gene-disease associations, variant interpretation, protein structure, and insights from exome and genome sequencing. Each episode breaks down key studies and their clinical relevance—one base at a time. Powered by AI, Base by Base offers a new way to learn on the go. Special thanks to authors who publish under CC BY 4.0, making open-access science faster to share and easier to explore.

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Jaksot(462)

445: Why Thymine Survived the UV: Photodamage Pathways Explained

445: Why Thymine Survived the UV: Photodamage Pathways Explained

Khosh Abady K et al., PNAS - Spectroscopic comparison of thymine and uracil under 265 nm UVC shows thymine is more photoreactive and absorbs more primordial UVC, yet channels damage into reversible CP...

22 Elo 26min

444: Many-eyes or Sentinels? How Cost Curvature Shapes Collective Vigilance

444: Many-eyes or Sentinels? How Cost Curvature Shapes Collective Vigilance

Pilgrim C et al., PNAS - A minimal analytical model shows that whether animal groups adopt distributed low-level vigilance (many-eyes) or concentrated high-vigilance roles (sentinels) depends on how i...

19 Elo 24min

443: 5D‑ASO boosts exon 51 skipping and restores dystrophin in DMD models

443: 5D‑ASO boosts exon 51 skipping and restores dystrophin in DMD models

Feng P et al., PNAS - This paper describes a bipartite antisense oligonucleotide (5D‑ASO) design that appends a short 5′ splice site decoy tail to improve exon skipping, demonstrating robust efficacy ...

18 Elo 19min

442: When pumps go missing: Ca2+ control of PMCA2 in Tmc1 deafness mutants

442: When pumps go missing: Ca2+ control of PMCA2 in Tmc1 deafness mutants

Rolseth AB et al., Proceedings of the National Academy of Sciences (PNAS) - This study links reduced Ca2+ entry through mutant TMC1 mechanotransducer channels to decreased PMCA2 pump density in outer ...

17 Elo 22min

441: Evolutionary mapping of Cav1.3 functional sites

441: Evolutionary mapping of Cav1.3 functional sites

Tang X et al., PNAS - The authors apply an evolutionary sequence-covariation model to the Cav1.3 (CACNA1D) α1-subunit, map predicted pathogenicity onto structural models, and validate five predicted s...

14 Elo 24min

440: DENV-4: Suppressing DNA Repair and Causing Genome Damage

440: DENV-4: Suppressing DNA Repair and Causing Genome Damage

Lamkina EN et al., PNAS - This episode reviews a PNAS brief report showing that DENV-4 infection induces marked DNA damage in infected cells while broadly suppressing transcription of DNA repair pathw...

12 Elo 23min

439: Coembedding Sequence and Structure: CLSS Maps the Protein Universe

439: Coembedding Sequence and Structure: CLSS Maps the Protein Universe

Longo LM et al., PNAS - This episode summarizes a PNAS study introducing CLSS, a contrastive two-tower protein language model that coembeds domain sequences, structures, and subsequences into a shared...

11 Elo 23min

438: Mapping AIRE: a proactive atlas of 9,790 missense variants

438: Mapping AIRE: a proactive atlas of 9,790 missense variants

Axakova A et al., The American Journal of Human Genetics - Axakova et al. generated a variant effect map for AIRE using an insulin‑promoter GFP reporter in HEK293 cells to measure the functional impac...

10 Elo 24min

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