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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Avsnitt(441)

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

255: Lipids, Ions and the AE1 Elevator

255: Lipids, Ions and the AE1 Elevator

Chen T et al., Nature Communications - Cryo-EM structures, uptake assays, and molecular dynamics show that PIP2 lipids bind at the AE1 dimer interface and inhibit the OF⇌IF conformational transition w...

10 Jan 19min

254: Rescuing the replisome at a nick

254: Rescuing the replisome at a nick

Winterhalter et al., Nature Communications - Cas9 nickases in Bacillus subtilis show that single-strand nicks in either template strand arrest DNA replication, create single-end double-strand breaks, ...

9 Jan 19min

253: Nap1 and histone acetylation tune chromatin condensates

253: Nap1 and histone acetylation tune chromatin condensates

Gao J et al., Nature Communications - H4 tail lysine residues drive liquid-liquid phase separation of 12‑mer nucleosome arrays, while H3 tail acetylation and the histone chaperone Nap1 increase intern...

8 Jan 20min

252: Keratinocytes to cSCC: genetic steps

252: Keratinocytes to cSCC: genetic steps

Deivendran D et al., Nature Communications, doi:10.1038/s41467-025-65687-y - Single-cell and spatial multi-omic profiling maps the genetic and transcriptional changes from normal keratinocytes through...

7 Jan 18min

251: MuSCs, laminin-α2 and LAMA2 MD

251: MuSCs, laminin-α2 and LAMA2 MD

McGowan TJ et al., Nature Communications, doi:10.1038/s41467-025-65703-1 - Activated muscle stem cells express and secrete laminin-α2 to remodel their niche, and loss of MuSC-derived laminin-α2 slows ...

6 Jan 19min

250: CIP2A–TOPBP1: Mitotic repair via MiDAS and MMEJ

250: CIP2A–TOPBP1: Mitotic repair via MiDAS and MMEJ

Nieminuszczy J et al., Nature Communications, doi:10.1038/s41467-025-65594-2 - This study shows the CIP2A-TOPBP1 complex coordinates two mitotic double-strand break repair pathways, MiDAS and MMEJ, by...

5 Jan 18min

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