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(444)

371: Glial epigenomic dysregulation and genetic risk in tauopathies

371: Glial epigenomic dysregulation and genetic risk in tauopathies

Han et al., Nature Communications - This study uses paired single-nucleus chromatin accessibility and gene expression profiling across Alzheimer’s disease, Pick’s disease and progressive supranuclear ...

19 Maj 26min

370: ICMT and INPP5E enable BRAFV600E tumor growth

370: ICMT and INPP5E enable BRAFV600E tumor growth

Yang X et al., Proceedings of the National Academy of Sciences - Genetic and pharmacologic inhibition of ICMT suppresses proliferation, invasion, and tumor growth in BRAFV600E-driven models and identi...

18 Maj 23min

369: NEK2 drives EBV-positive NHL pathogenesis

369: NEK2 drives EBV-positive NHL pathogenesis

White MC et al., PNAS - This episode reviews a PNAS study showing that the kinase NEK2 is upregulated by EBV and its latency proteins and that NEK2 inhibition with the irreversible inhibitor JH295 sel...

16 Maj 24min

368: PARP1 and Amyloid: Protecting Neurons in a Familial AD Model

368: PARP1 and Amyloid: Protecting Neurons in a Familial AD Model

Jhaldiyal A et al., PNAS - This episode summarizes a PNAS study showing that PARP1 activation links Aβ1-42 toxicity to DNA damage, amyloid accumulation, neuroinflammation, and cognitive deficits, and ...

16 Maj 26min

367: Ancestral Splice Variation Fuels Cichlid Jaw Diversification

367: Ancestral Splice Variation Fuels Cichlid Jaw Diversification

Singh P et al., PNAS - This paper compares alternative splicing (AS) and gene expression (GE) across 200 transcriptomes from oral and pharyngeal jaws of 18 haplochromine cichlid species across Lakes V...

15 Maj 22min

366: BRCA1P1 suppresses antiviral and antitumor immunity

366: BRCA1P1 suppresses antiviral and antitumor immunity

Han YJ et al., Proceedings of the National Academy of Sciences (PNAS) - This episode examines a PNAS study showing that the BRCA1 pseudogene BRCA1P1 produces circular RNAs that suppress antiviral inna...

15 Maj 24min

365: MEN1 mutations and menin inhibitor resistance

365: MEN1 mutations and menin inhibitor resistance

Bourgeois et al., Nature Communications - This study used enhanced CRISPR base editor screens, structural biology, biochemical assays, and in vitro/in vivo selection to map MEN1 mutations that drive r...

15 Maj 22min

364: Peripheral C4 and Schizophrenia: A Neutrophil Gene–Protein Link

364: Peripheral C4 and Schizophrenia: A Neutrophil Gene–Protein Link

Kalinowski A et al., PNAS - This study reports that C4 protein is enriched in human neutrophils and monocytes and that neutrophil C4 protein levels correlate with C4A gene copy number specifically in ...

11 Maj 17min

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