iiinova — where your digital self keeps evolving

Base by Base @basebybase.bsky.social · 18h

A gene active in the retina's blood vessels, not its photoreceptors, rises out of AMD genetics. Mice without it lose dim-light and contrast vision. basebybase.com/episodes/cnn2-amd-ve… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: A vessel gene tied to AMD dims low-light vision in mice

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Base by Base @basebybase.bsky.social · 24/09/2026

Deleting the bipolar risk gene Ank3 from adult mouse neurons made them quieter and lowered a myelin protein made by other cells. Lithium restored that protein. basebybase.com/episodes/ank3-adult-… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Adult Ank3 loss quiets neurons and lowers a myelin protein

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Base by Base @basebybase.bsky.social · 21/09/2026

Most people carry an IRF7 variant that raises interferon. It clears virus faster and pushes autoantibodies higher. One change, both effects. basebybase.com/episodes/irf7-lupus-… @ajhgnews.bsky.social

Base by Base cover: The lupus variant that also sharpens antiviral defense

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Base by Base @basebybase.bsky.social · 14/09/2026

515 genes have been linked to cerebral palsy. Tested against population prevalence, only 89 show statistical evidence of association. basebybase.com/episodes/cerebral-pa… @ajhgnews.bsky.social

Base by Base cover: Cerebral palsy genetics: 515 candidate genes, evidence for 89

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Base by Base @basebybase.bsky.social · 10/09/2026

Most pathogenic TP53 variants in healthy blood are not inherited. In 469,391 exomes, they are somatic clones, and the risk they carry is blood cancer. basebybase.com/episodes/tp53-somati… @ajhgnews.bsky.social

Base by Base cover: Somatic or inherited? Reading TP53 risk from shared DNA

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Base by Base @basebybase.bsky.social · 09/09/2026

One stretch of chromosome 22 moves Alzheimer risk both ways: deletions only in early-onset cases, duplications enriched in controls. basebybase.com/episodes/22q11-dosag… @ajhgnews.bsky.social

Base by Base cover: A deletion that raises Alzheimer risk, a duplication that lowers it

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Base by Base @basebybase.bsky.social · 08/09/2026

Exons are 2.5% of the genome and carry ~15% of heritability - and less the more polygenic a trait gets. Across 34 traits, heritability slides from exons toward distal intergenic regions as poly… basebybase.com/episodes/beyond-exon… @ajhgnews.bsky.social

Base by Base cover: Beyond exons: where heritability hides as traits get more polygenic

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Base by Base @basebybase.bsky.social · 07/09/2026

AI agents can now run a whole genomic analysis from a sentence. This Perspective argues the hard part moved: producing analyses got cheap, judging them did not. basebybase.com/episodes/agentic-gen…

Base by Base cover: Agentic genomics: the bottleneck moves from code to judgment

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Base by Base @basebybase.bsky.social · 02/09/2026

Um remédio de HIV aprovado, a 1/300 da dose usual, prolongou a sobrevida de camundongos com príons humanos de CJD — mudando como o cérebro limpa colesterol, não baixando a proteína priônica. basebybase.com/episodes/efavirenz-p…

Base by Base cover: Efavirenz retarda a doença priônica mexendo no colesterol do cérebro [PT]

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Base by Base @basebybase.bsky.social · 31/08/2026

PaperCast Base by Base Ep.453: Low-dose efavirenz slowed disease, increased CYP46A1 and 24S‑HC, reduced PrPSc and extended survival in a humanized sCJD mouse model. Hear the breakdown basebybase.com/episodes/efavirenz-p…

Base by Base cover: Efavirenz slows sCJD progression by reshaping brain cholesterol

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Base by Base @basebybase.bsky.social · 28/08/2026

New PaperCast: ASO-mediated prion protein lowering delays disease across strains and stages, reverses biomarkers, and supports PrP‑lowering therapeutics. Listen basebybase.com/episodes/prion-prote…

Base by Base cover: Reduzir a PrP funciona em todas as linhagens [PT]

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Base by Base @basebybase.bsky.social · 26/08/2026

Episode 451: ASO-mediated lowering of prion protein extends survival across strains and stages, reverses NfL and GFAP biomarkers, and shows benefit even after symptom onset. Listen basebybase.com/episodes/prion-prote…

Base by Base cover: Prion protein lowering is disease-modifying across stages and strains

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Base by Base @basebybase.bsky.social · 24/08/2026

Os episódios 449 e 450 saem em português — os primeiros do Base by Base. São a versão brasileira dos episódios dedicados ao Lito Sousa, sobre a ciência dos ensaios para doença priônica. basebybase.com/episodes/divalent-si…

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Base by Base @basebybase.bsky.social · 24/08/2026

New PaperCast: PrP-targeting antisense oligonucleotides lower PrP, slow neuropathology, and markedly extend survival in prion-infected mice—even when given near symptom onset. Listen now basebybase.com/episodes/450-prp-low…

Base by Base cover: PrP-Lowering ASOs Extend Survival in Prion-Infected Mice

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Base by Base @basebybase.bsky.social · 24/08/2026

PaperCast Base by Base — new episode on divalent siRNA for prion disease: how 2439-s4 lowers PrP, extends survival in mice, and advanced to IND. Listen now basebybase.com/episodes/divalent-si…

Base by Base cover: Divalent siRNA for prion disease

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Base by Base @basebybase.bsky.social · 24/08/2026

Episode 448: PrP‑lowering antisense oligonucleotides delayed pathology and extended survival in prion‑infected mice, even when given near symptom onset. Listen now basebybase.com/episodes/prp-lowerin…

Base by Base cover: PrP‑lowering ASOs prolong survival in prion‑infected mice

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Base by Base @basebybase.bsky.social · 24/08/2026

New PaperCast: divalent siRNA lowers PrP, extends survival in prion mice, and yields lead candidate 2439‑s4 with IND clearance — hear the science and implications basebybase.com/episodes/divalent-si…

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Base by Base @basebybase.bsky.social · 23/08/2026

New PaperCast Episode 446: G51D α‑synuclein mice lose primary cilia and cilia‑dependent neurotrophic signaling in vulnerable neurons — a convergent pathway in Parkinson’s disease. List… basebybase.com/episodes/cilia-synuc… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Cilia, Synuclein, and Survival: G51D Mice Reveal a Shared Parkinson’s Pathway

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Base by Base @basebybase.bsky.social · 22/08/2026

Episode 445: New spectroscopy shows thymine absorbs more UVC but channels damage into reversible lesions—how that may have shaped DNA’s choice over uracil. Listen now basebybase.com/episodes/uv-photodam… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Why Thymine Survived the UV: Photodamage Pathways Explained

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Base by Base @basebybase.bsky.social · 19/08/2026

New PaperCast: How cost curves decide whether groups use many-eyes or sentinels — insights from a PNAS model of vigilance strategies. Listen basebybase.com/episodes/many-eyes-o… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Many-eyes or Sentinels? How Cost Curvature Shapes Collective Vigilance

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Base by Base @basebybase.bsky.social · 19/08/2026

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Base by Base @basebybase.bsky.social · 18/08/2026

New PaperCast Base by Base: 5D‑ASO uses a short U1‑decoy tail to boost exon 51 skipping, restore dystrophin and improve phenotype in DMD models — Listen now basebybase.com/episodes/base-by-bas… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: 5D‑ASO boosts exon 51 skipping and restores dystrophin in DMD models

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Base by Base @basebybase.bsky.social · 17/08/2026

PaperCast Base by Base Ep442: Tmc1 mutations reduce MET Ca2+ influx and PMCA2 pump insertion in neonatal hair cells, linking pump loss to deafness. Listen now basebybase.com/episodes/ca2-regulat… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: When pumps go missing: Ca2+ control of PMCA2 in Tmc1 deafness mutants

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Base by Base @basebybase.bsky.social · 14/08/2026

New PaperCast ep. 441: Evolutionary modeling maps functional sites in Cav1.3 and electrophysiology validates variants that shift gating from nonconducting to gain- or loss-of-fun… basebybase.com/episodes/evolutionar… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Evolutionary mapping of Cav1.3 functional sites

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Base by Base @basebybase.bsky.social · 12/08/2026

New episode: DENV-4 causes DNA damage while suppressing DNA repair genes, creating possible long-term molecular scars—hear the findings on Base by Base basebybase.com/episodes/base-by-bas… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: DENV-4: Suppressing DNA Repair and Causing Genome Damage

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Base by Base @basebybase.bsky.social · 11/08/2026

New PaperCast: CLSS coembeds protein sequences, structures, and subsequences to map protein space and outperform current PLMs. Hear how compact 32‑D embeddings reveal functio… basebybase.com/episodes/clss-contra… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Coembedding Sequence and Structure: CLSS Maps the Protein Universe

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Base by Base @basebybase.bsky.social · 10/08/2026

New PaperCast episode: We break down Axakova et al.'s AIRE missense variant effect map—9,790 variants assayed, VUS reclassification, genotype–phenotype links, and UK Biobank findings. Listen basebybase.com/episodes/s2-e438-air… @ajhgnews.bsky.social

Base by Base cover: Mapping AIRE: a proactive atlas of 9,790 missense variants

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Base by Base @basebybase.bsky.social · 09/08/2026

New PaperCast: Pooling 12–39 donor NPCs + Townlet Dirichlet modeling maps genetic effects on proliferation and lead sensitivity, highlighting 16p11.2 overgrowth and ZFHX3/ARNT2 loci. Listen basebybase.com/episodes/cell-villag… @ajhgnews.bsky.social

Base by Base cover: Cell villages and Dirichlet modeling map human cell fitness genetics

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Base by Base @basebybase.bsky.social · 09/08/2026

New PaperCast Base by Base episode: how KIAP4 and the ARND family enable Leishmania to stick to sand flies and why that matters for blocking transmission. Listen now basebybase.com/episodes/kiap4-arnd-… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: KIAP4 and the ARND family: building the Leishmania adhesion plaque

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Base by Base @basebybase.bsky.social · 07/08/2026

New PaperCast: cryo-EM shows E. coli TGT dimer binds two tRNAs and enables high-affinity dual-TAG RNA design — implications for antibiotics and RNA labeling tools. Listen basebybase.com/episodes/ecoli-tgt-d… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: E. coli TGT binds two tRNAs — cryo-EM reveals dual engagement

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Base by Base @basebybase.bsky.social · 06/08/2026

Back from ADLM & glad to return! Base by Base Ep. 434 is out today 🧬 High-coverage Jomon + Yayoi genomes recast Japan's prehistory: divergent demography & high AMY1 (starch genes) before rice farming. Thanks for listening! basebybase.com/episodes/high-covera…

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Base by Base @basebybase.bsky.social · 06/08/2026

New PNAS genomes reshape Japan's prehistory: high-coverage Jomon and Yayoi genomes reveal divergent post-LGM demography and high AMY1 before rice farming — PaperCast Base by Base Ep. 434 basebybase.com/episodes/high-covera… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: High‑coverage genomes recast Japan's prehistoric demography

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Base by Base @basebybase.bsky.social · 24/07/2026

🎥 We're on YouTube! Every Base by Base episode — one open-access paper audited claim by claim, with its original song — is now watchable there too. Come subscribe 👇 www.youtube.com/channel/UC0hF-N9STd…

youtube.com

https://www.youtube.com/channel/UC0hF-N9STdlbVlX1J8N5zYw

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Base by Base @basebybase.bsky.social · 24/07/2026

✈️ Our host Gustavo is off from Brazil to Anaheim, CA for the ADLM congress! New episodes pause for a week — but we dropped a whole batch yesterday, so enjoy the binge. 🎧 We'll be back with news from the meeting. See you in a week! 🧬

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Reposted by Base by Base

Chris Gunter 🧬 @girlscientist.bsky.social · 23/07/2026

Ok I know these two people discussing our new paper are not real but who doesn’t want to hear their lab’s new paper covered for 30 minutes??

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Base by Base @basebybase.bsky.social · 23/07/2026

New PaperCast: HSP90α lactylation links glycolysis to mitochondrial biogenesis and estrogen production in ovarian cells — listen to episode 433 to unpack the lactate–HSP90α–PGC1α/LRPGC1 axis basebybase.com/episodes/hsp90a-lact… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Lactate, HSP90α and the Mitochondrial Switch

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Base by Base @basebybase.bsky.social · 23/07/2026

Cryo-EM/ET shows echovirus 18 releases RNA by capsid opening after FcRn-triggered pocket-factor expulsion—empty capsids lack 1–3 pentamers. Listen to Base by Base Ep. 432 basebybase.com/episodes/echovirus-1… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Echovirus 18: Capsid opening releases the genome

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Base by Base @basebybase.bsky.social · 23/07/2026

New PaperCast: KIAP4 and the ARND family are essential for Leishmania adhesion and sand fly colonization—potential targets for transmission-blocking interventions. Listen now basebybase.com/episodes/kiap4-arnd-… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: KIAP4 and the ARND family: essential proteins for Leishmania–sand fly adhesion

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Base by Base @basebybase.bsky.social · 23/07/2026

New episode: molecular phylogenetics of 75,975 OTUs shows crown eukaryotes steadily diversified from the mid‑Proterozoic and Archaeplastida led early divers… basebybase.com/episodes/environment… @pnas.org @pnasnexus.org @nasonline.org

Base by Base cover: Proterozoic Rise: Steady Diversification of Crown Eukaryotes

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Base by Base @basebybase.bsky.social · 23/07/2026

New episode: we break down validation of the 17-item EAGL-short—a tool measuring subjective knowledge, comprehension, and conceptual genetic knowledge in ~2,700 US adults. Hear how numeracy, education, and auti… basebybase.com/episodes/eagl-psycho… @hggadvances.bsky.social

Base by Base cover: Validating the EAGL genetic literacy measure

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Base by Base @basebybase.bsky.social · 23/07/2026

New episode: GWAS + untargeted metabolomics in 1,244 people with HIV reveals genetic control of plasma metabolites, eQTL colocalizations, and MR links to kidney and lipid biomarkers — Listen now basebybase.com/episodes/genetic-met… @hggadvances.bsky.social

Base by Base cover: Genetic regulation of plasma metabolites in people with HIV

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Base by Base @basebybase.bsky.social · 23/07/2026

New episode: How host gene variants shape the gut microbiome and drive metabolic disease — from TCF7L2 and LCT to defensins and Akkermansia. Listen to PaperCast Base by Base basebybase.com/episodes/genes-gut-m…

Base by Base cover: When Genes Talk to Gut: Microbiome as Mediator of Metabolic Risk

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Base by Base @basebybase.bsky.social · 23/07/2026

Episode 426: ProtoCloud makes single-cell annotation transparent—prototype embeddings, gene-level explanations, and uncertainty estimates that detect rare states and correct labels. Listen basebybase.com/episodes/protocloud-…

Base by Base cover: ProtoCloud — Prototypical self-explaining model for single-cell analysis

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Base by Base @basebybase.bsky.social · 23/07/2026

New PaperCast: BEAM uses Bayesian joint inference of lineage trees and tissue-migration graphs to map metastasis routes, timing, and uncertainty—applied to simulations and mouse lung/prostate data. Listen basebybase.com/episodes/beam-bayesi…

Base by Base cover: BEAM: Bayesian reconstruction of metastatic migration histories

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Base by Base @basebybase.bsky.social · 23/07/2026

New PaperCast: Cox et al. reconstruct LECA's protein interactome and link ancient complexes to human diseases including ciliopathies and osteopetrosis. Hear how evolutionary proteomics reveals mechanisms and validated gene candidates basebybase.com/episodes/leca-intera…

Base by Base cover: LECA's Ancient Interactome and Modern Disease

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Base by Base @basebybase.bsky.social · 22/07/2026

New PaperCast: Aguirre et al. show how GRN sparsity, modularity, and hubs shape cis- and trans-heritability, making expression less polygenic and more pleiotropic. Hear the implications for eQTL discovery and GRN inference basebybase.com/episodes/grn-topolog…

Base by Base cover: How GRN Topology Shapes the Genetic Architecture of Expression

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Base by Base @basebybase.bsky.social · 22/07/2026

PaperCast Base by Base Ep422: Germline rDNA variants in ~500k UK Biobank genomes link to complex traits — ES15L variants associate with height & weight and are present in translating ribosomes. Listen basebybase.com/episodes/germline-rd…

Base by Base cover: Germline rDNA Variants and Human Complex Traits

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Base by Base @basebybase.bsky.social · 22/07/2026

PaperCast ep421: Rare pre-existing melanoma cell states predict resistance to multiple therapies—CD44-high cells mark multi-treatment tolerance and distinct transcriptional routes to resistance. Listen now basebybase.com/episodes/pre-existin…

Base by Base cover: Pre-existing Cell States Predict Multi-Treatment Resistance

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Base by Base @basebybase.bsky.social · 21/07/2026

New PaperCast Base by Base: explore NOTCH2NL duplications, gene conversion, and paralog-specific regulation in human brain evolution. Listen now basebybase.com/episodes/notch2nl-du…

Base by Base cover: NOTCH2NL duplications: diversity, regulation, and human-specific changes

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Base by Base @basebybase.bsky.social · 20/07/2026

Episode 419: Explore the Single-Cell Pediatric Cancer Atlas — a portal of >700 uniformly processed pediatric tumor sc/snRNA-seq samples, open tools (scpca-nf), and ready-to-use R/Python downloads. Listen basebybase.com/episodes/scpca-data-…

Base by Base cover: The Single-Cell Pediatric Cancer Atlas

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