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)

249: PCM1 links centrosome asymmetry to endosome dynamics

249: PCM1 links centrosome asymmetry to endosome dynamics

Zhao X et al., Nature Communications - In developing neural progenitors PCM1 localizes to the mother centrosome and to Notch ligand-containing endosomes, promoting Par-3/dynein assembly and Rab5-to-Ra...

4 Jan 20min

248: Disruption of PIKfyve triggers lysosomal repair and mitochondrial adaptation

248: Disruption of PIKfyve triggers lysosomal repair and mitochondrial adaptation

Kutchukian C et al., Nature Communications - Disruption of the PIKfyve/Fig4/Vac14 complex drives ULK1-dependent trafficking of PI4KIIα and ATG9A to lysosomes, elevating lysosomal PI(4)P to promote mem...

3 Jan 21min

247: Genome graphs reveal structural variation in M. tuberculosis

247: Genome graphs reveal structural variation in M. tuberculosis

Canalda-Baltrons A et al., Nature Communications - Long-read assemblies and a pangenome reference graph uncover widespread structural variants that shape Mycobacterium tuberculosis evolution and contr...

2 Jan 21min

246: SV2A structural pharmacology and allosteric occlusion

246: SV2A structural pharmacology and allosteric occlusion

Pidathala S et al., Nature Communications - High-resolution cryo-EM structures of human SV2A reveal that orthosteric ligands induce an occluded MFS conformation and a secondary allosteric pocket modul...

1 Jan 16min

245: Benchmarking DNA foundation models

245: Benchmarking DNA foundation models

Feng H et al., Nat Commun - A comprehensive, unbiased benchmark compares five DNA foundation models across 57 datasets and multiple tasks, finding mean token embeddings improve classification and that...

31 Dec 202519min

244: NEK7 couples SDHB to preserve mitochondrial electron transport and limit liver fibrosis

244: NEK7 couples SDHB to preserve mitochondrial electron transport and limit liver fibrosis

Sun Z et al., Nature Communications - Mitochondrial NEK7 is imported via MTS peptides, binds SDHB to stabilize complex II conformation, prevent reverse electron transport and ROS, and thereby protects...

30 Dec 202517min

243: Genome-wide UVB GxE study finds 162 vitamin D variants

243: Genome-wide UVB GxE study finds 162 vitamin D variants

Shraim R et al., Nat Commun - A GWIS of 338,977 UK Biobank White British participants using a cumulative weighted ambient UVB measure identified 307 independent loci for 25-hydroxyvitamin D, including...

29 Dec 202517min

242: AAV9-fcMISv2 gene therapy prevents pregnancy in female cats

242: AAV9-fcMISv2 gene therapy prevents pregnancy in female cats

Godin P et al., Nature Communications - A single intramuscular injection of an AAV9 vector encoding feline anti‑Müllerian hormone (fcMISv2) in prepubertal kittens produced sustained supraphysiological...

28 Dec 202517min

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