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
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
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
113: Joint cohort genomics cracks ultra‑rare disease cases
Nadimpalli Kobren S et al., Nature Communications - The Undiagnosed Diseases Network (UDN) applied joint whole‑genome analysis across 4,236 individuals and introduced RaMeDiES, an analytical framework...
21 Aug 202522min
112: Local Genetic Sex Differences in Quantitative Traits
️ Episode 112: Local Genetic Sex Differences in Quantitative Traits In this episode of PaperCast Base by Base, we explore how genetic differences between males and females are distributed across the ...
20 Aug 202521min
111: HANCOCK: Multimodal Dataset for Precision Oncology in Head and Neck Cancer
Dörrich M et al., Nature Communications - This episode summarizes HANCOCK, a monocentric multimodal dataset of 763 head and neck cancer patients combining demographics, structured pathology and blood ...
19 Aug 202517min
110: Rare coding variants implicate STAG1 and ZNF136 in schizophrenia
Chick SL et al et al., Nature Communications - Largest exome-sequencing meta-analysis to date (28,898 cases, 103,041 controls, 3,444 trios) identifies STAG1 and ZNF136 at exome-wide significance and s...
18 Aug 202520min
109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality
️ Episode 109: Autocrine Interferon Poisoning: ADAR1–BRCA Synthetic Lethality In this episode of PaperCast Base by Base, we explore how loss of the RNA editor ADAR1 becomes lethal to BRCA1/2‑mutant c...
17 Aug 202518min
