Base by Base

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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Episoder(463)

263: Bifacial γPNA triplets target rCUG repeats and displace MBNL1 in Myotonic Dystrophy type 1

263: Bifacial γPNA triplets target rCUG repeats and displace MBNL1 in Myotonic Dystrophy type 1

Perera J et al., Proc. Natl. Acad. Sci. U.S.A. 2026.123:e2507065123 - Gamma-PNA triplet ligands with Janus bases selectively bind expanded rCUG repeats, displace MBNL1, and show length-dependent coope...

18 Jan 20min

262: Human Langerhans cells reprogrammed by tick saliva (CXCR4/CCR7 migration and IDO1/IRF4 tolerance)

262: Human Langerhans cells reprogrammed by tick saliva (CXCR4/CCR7 migration and IDO1/IRF4 tolerance)

Strobl et al., Nature Communications - Human epidermal Langerhans cells exposed to Ixodes ricinus tick saliva and Borrelia burgdorferi adopt a tolerogenic state with CXCR4/CCR7-driven emigration that ...

17 Jan 21min

261: MHz-XPCS reveals anomalous ferritin diffusion and nanoscale cage trapping

261: MHz-XPCS reveals anomalous ferritin diffusion and nanoscale cage trapping

Girelli et al., Nature Communications - MHz-XPCS of ferritin solutions at EuXFEL shows anomalous, cage-trapped protein diffusion with reduced long-time transport and ~1.2 nm rattling at high concentra...

16 Jan 16min

260: TSS hypermutability in human germline linked to RNAP II stalling, R-loops and early embryonic mosaics

260: TSS hypermutability in human germline linked to RNAP II stalling, R-loops and early embryonic mosaics

Nature Communications - Transcription start sites experience a high influx of heritable variants fueled by early development Music:Enjoy the music based on this article at the end of the episode. Ar...

15 Jan 16min

259: Ku filaments that hold DNA together

259: Ku filaments that hold DNA together

Zahid S et al., Nature Communications, doi:10.1038/s41467-025-65609-y - Cryo-EM and biophysical analyses show Mycobacterium tuberculosis Ku assembles into DNA-bound oligomeric filaments that synapse D...

14 Jan 17min

258: Correcting GC bias in metagenomes

258: Correcting GC bias in metagenomes

Holcik L et al., Nature Communications, doi:10.1038/s41467-025-65530-4 - GuaCAMOLE is an alignment-free algorithm that estimates and removes genomic GC-content-dependent sequencing bias to produce mor...

13 Jan 17min

257: PSMC5: proteasomes, immunity and neurodevelopment

257: PSMC5: proteasomes, immunity and neurodevelopment

Küry S et al., Nature Communications, doi:10.1038/s41467-025-65556-8 - This study describes 26 distinct PSMC5 variants in 44 individuals and demonstrates that PSMC5 loss impairs proteasome function, d...

12 Jan 18min

256: Compartmental control of VSG silencing

256: Compartmental control of VSG silencing

Antunes et al., Nature Communications - The study shows that spatial segregation of core and subtelomeric chromosome compartments, demarcated by protein-rich boundaries and controlled by a phosphoinos...

11 Jan 18min

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