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)

121: G-quadruplexes, BRCA2, and a Helicase Weak Spot

121: G-quadruplexes, BRCA2, and a Helicase Weak Spot

Keahia DL et al., Proceedings of the National Academy of Sciences (PNAS) - This study shows that G-quadruplex (G4) DNA structures are hotspots of replication stress and mutagenesis in BRCA2-deficient ...

29 Aug 202519min

120: When the Clock Breaks: BMAL1 Variants and a Neurodevelopmental Syndrome

120: When the Clock Breaks: BMAL1 Variants and a Neurodevelopmental Syndrome

Cuddapah VA et al., Proceedings of the National Academy of Sciences (PNAS) - An international series of 10 individuals with ultrarare heterozygous BMAL1 variants present a syndromic neurodevelopmental...

28 Aug 202522min

119: G-quadruplexes, pericentromeres, and B cell genome instability

119: G-quadruplexes, pericentromeres, and B cell genome instability

Waisertreiger I et al., PNAS - This study tests how stabilization of G-quadruplex (G4) DNA by ligands such as pyridostatin (PDS) affects genome stability in primary and malignant B cells. The authors ...

27 Aug 202518min

118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B

118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B

️ Episode 118: Cancer cells subvert the primate-specific KRAB zinc finger protein ZNF93 to control APOBEC3B In this episode of PaperCast Base by Base, we explore how cancer cells co-opt a primate-spe...

26 Aug 202519min

117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection

117: Pol III–linked polyadenylation fuels SINE RNA accumulation during infection

Pol III–linked polyadenylation fuels SINE RNA accumulation during infection Music:Enjoy the music based on this article at the end of the episode. DOI:10.1073/pnas.2507186122 Support:Base by Base –...

25 Aug 202516min

116: Silent but Stalling: A Synonymous mtDNA Variant Shapes CD8+ T Cells

116: Silent but Stalling: A Synonymous mtDNA Variant Shapes CD8+ T Cells

Lareau CA et al., PNAS - Single-cell multiomic profiling identifies a mosaic synonymous mtDNA variant (m.7076A>G) in MT-CO1 that is selectively depleted in CD8+ effector memory T cells. Mechanistic as...

24 Aug 202515min

115: Neurofibromin, KRAS, and new targets for NF1 tumors

115: Neurofibromin, KRAS, and new targets for NF1 tumors

Vasudevan HN et al., PNAS - CRISPRi, transcriptomic and proteomic profiling in peripheral nervous system cell models reveal how NF1 loss rewires Ras signaling, alters MEK inhibitor response, and nomin...

24 Aug 202515min

114: One-hour extraction-free LAMP HPV test for point-of-care screening

114: One-hour extraction-free LAMP HPV test for point-of-care screening

Barra MJ et al et al., Nature Communications (2025) 16:7295 - This study reports development and analytic evaluation of an extraction-free DARQ LAMP assay detecting HPV16, HPV18, and HPV45 plus a cell...

22 Aug 202516min

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