Base by Base

Thank you, @ajhgnews.bsky.social! A powerful example of how multi-model approaches can illuminate the mechanisms behind complex neurodevelopmental phenotypes.

Thank you, @ajhgnews.bsky.social! We’re honored to feature such elegant work connecting splicing biology to retinal disease mechanisms.

Capa do episodio Base by Base: Episode 300: Population-scale WGS links MHC class II antigen presentation to persistent Epstein–Barr virus (EBV) DNA

🎧 Episode 300: Population-scale WGS from UK Biobank and All of Us finds HLA/MHC class II antigen presentation predicts persistent EBV DNA and links to disease — listen

https://basebybase.com/episodes/ebv-mhc-class-ii

@nature.com

Capa do episodio Base by Base: Episode 299: UFM1 loss and R81C mutation disrupt neuronal translation, ER stress, and synaptogenesis

🎧 New PaperCast: Encephalopathy-linked UFM1 variants impair neuronal translation and synapse development, while Trazodone rescues translation in UFM1-R81C neurons @embomolmed.embo.org https://basebybase.com/episodes/ufm1-r81c-neuronal-translation

Capa do episodio Base by Base: Episode 298: Bi-allelic FSD1L variants in retinitis pigmentosa implicate photoreceptor axoneme

🎧 New episode: Bi-allelic FSD1L variants linked to retinitis pigmentosa—exon 10b mis-splicing and axoneme localization suggest trafficking defects; Listen now @ajhgnews.bsky.social https://basebybase.com/episodes/fsd1l-retinitis-pigmentosa-axoneme

Capa do episodio Base by Base: Episode 297: Bi-allelic FSD1L variants disrupt mitotic spindle and ciliogenesis in an L1-like neurodevelopmental disorder

🎧 New PaperCast episode: Bi-allelic FSD1L variants disrupt a microtubule-associated protein causing hydrocephalus and callosal defects; mouse and iPSC studies show impaired ciliogenesis and neur… @ajhgnews.bsky.social https://basebybase.com/episodes/fsd1l-microtubule-ciliogenesis

Capa do episodio Base by Base: Episode 296: snaR-A ncRNA antagonizes U2 snRNP SF3B2 to drive intron retention in human cells

🎧 snaR-A binds U2 snRNP subunit SF3B2, driving intron retention and proliferation in human cells — we unpack the splicing mechanism and cancer links @natcomms.nature.com @natureportfolio.nature.com @vanbortlelab.com https://basebybase.com/episodes/snar-a-sf3b2-splicing

Capa do episodio Base by Base: Episode 295: CFTR deltaF508 and CF-risk variants protect against IBD in large exome study

🎧 New PaperCast: Large-scale exome sequencing finds CFTR risk variants including deltaF508 reduce IBD risk and highlight challenges in variant prioritization. Listen https://basebybase.com/episodes/cftr-deltaf508-ibd-protection

Capa do episodio Base by Base: Episode 294: Alternative splicing, exonization and lineage-specific isoforms: PTBP1, MAPT and TE-derived exons in mammalian evolution

🎧 New PaperCast episode: how alternative splicing, exonization and long-read RNA‑seq reveal mechanisms linking AS (PTBP1, MAPT, IFNAR2) to lineage-specific traits — Listen now https://basebybase.com/episodes/alternative-splicing-exonization-evolution

Capa do episodio Base by Base: Episode 293: IndeLLM (ESM2) zero-shot scoring and Siamese transfer learning for in-frame indel prediction (MCC 0.77)

🎧 New PaperCast: IndeLLM uses ESM2 protein language models to map and predict in-frame indels; a compact Siamese model reaches MCC 0.77 and tools are on GitHub/Colab https://basebybase.com/episodes/indellm-indel-siamese-model

🎙️Listen to @basebybase.bsky.social to learn more about the latest work from Wirth & colleagues!

Capa do episodio Base by Base: Episode 292: INS R6C signal-peptide defect reduces preproinsulin ER translocation in iPSC-derived βcells

🎧 New PaperCast: INS R6C causes recessive insulin-deficient diabetes via impaired preproinsulin ER translocation; iPSC-derived βcell and population data clarify heterozygote risk https://basebybase.com/?episode=292-ins-r6c-signal-peptide-defect-reduces-preproinsulin-er-t-vf8bv9

Capa do episodio Base by Base: Episode 291: Dated gene duplications show Asgard archaeal host complexity before mitochondrial endosymbiosis

🎧 New PaperCast: Relaxed-clock dating of pre-LECA gene duplications shows an Asgard archaeal host with cytoskeleton, endomembrane system and nucleus before mitochondrial acquisiti… https://basebybase.com/?episode=291-dated-gene-duplications-show-asgard-archaeal-host-comple-605svf

Capa do episodio Base by Base: Episode 290: SMN1 p.Arg288AlafsTer5 exon 7 deletions evade PCR newborn screening yet yield functional SMN isoform

🎧 Two newborns with SMN1 exon 7 4-bp deletions (p.Arg288AlafsTer5) escaped PCR SMA screening but express a functional SMN protein that rescues smn1-deficient zebrafish and avoided… https://basebybase.com/?episode=290-smn1-p-arg288alafster5-exon-7-deletions-evade-pcr-newbor-z64oqq

Totally fair — did you make it to the song? 🎶

Absolutely — it can be complicated when you’re not from the field. These initialisms come up all the time, and without the background they can be a real speed bump.

Capa do episodio Base by Base: Episode 289: MinION detection of chimeric reads in murine Ifna/Ifnb and Actb amplicons

🎧 MinION amplicon sequencing of murine Ifna/Ifnb and Actb reveals ~1.7% post-amplification chimeric reads linked to ligation conditions; long reads aid detection and filtering https://basebybase.com/?episode=289-minion-detection-of-chimeric-reads-in-murine-ifna-ifnb-a-19p2jwz

Lipid Constellations

Deep inside the brain, lipid signals silently decide how neurons live and fade.

We turned that hidden story into a song ✨
open.spotify.com/track/7G8enP...

Capa do episodio Base by Base: Episode 288: Cryo-EM of rat cerebellar α1/α6 GABAA receptors reveals PZ‑II‑029 binding and β-α-β-α-γ assemblies

🎧 New episode: cryo-EM and proteomics reveal α1/α6-containing GABAA receptor assemblies in rat cerebellum and the PZ-II-029 binding mode at α+/γ− sites https://basebybase.com/?episode=288-cryo-em-of-rat-cerebellar-1-6-gabaa-receptors-reveals-pz-1hyyneq

Capa do episodio Base by Base: Episode 287: EPOP and MTF2 modulate PRC2 H3K27me3 deposition via GA- and GCN-sequence specificity

🎧 New PaperCast episode: EPOP and MTF2 tune PRC2 activity via GA- and GCN-rich linker DNA to direct de novo H3K27me3 deposition in mESCs — Listen now https://basebybase.com/?episode=287-epop-and-mtf2-modulate-prc2-h3k27me3-deposition-via-ga-a-14vo9wa

Pulse Beneath the Signal

🎵 open.spotify.com/track/30OmCJ...

Beneath the noise of millions of genomes,
there are quiet signals shaping how our bodies work.

This song came from that idea ✨

Electric Lines Between the Stars

🎵 open.spotify.com/track/4cN9TD...

Chromosomes don’t act randomly —
they follow hidden rhythms to stay organized.

This song came from that idea ✨

Remote Greek culture has been a genetic ‘island’ for 4500 years

The Mani Peninsula, off the southern coast of Greece, is home to a group of genetically isolated people called Deep Maniots.

A new DNA analysis links them to Greece’s premedieval past.

Learn more: https://scim.ag/4qrtW7k

Picture showing a doctor placing a band-aid on the arm of a patient.

In the latest Science Sessions episode, Lauren Meyers of UT Austin discusses lessons from the 2022-2023 influenza season on the effectiveness of flu vaccines. Listen now: https://ow.ly/iCVJ50YcoK8

🎧 Featured this @pnas.org paper on Base by Base—bringing peer-reviewed findings to broader audiences and helping expand the reach of CC BY science. basebybase.com?episode=286-...

Capa do episodio Base by Base: Episode 286: Deep mutational scanning of Nipah virus fusion protein F reveals functional and antigenic constraints

🎧 Deep mutational scanning maps ~8,500 mutations in the Nipah virus fusion protein F, revealing constrained fusion-peptide interfaces and antibody-escape sites — listen https://basebybase.com/?episode=286-deep-mutational-scanning-of-nipah-virus-fusion-protein-f-w7vsbc

@girlscientist.bsky.social Thank you so much! We really enjoyed covering your AJHG paper on genetic literacy—fantastic work. Glad the summary resonated.

Thanks to @basebybase.bsky.social for covering our @ajhgnews.bsky.social paper on genetic literacy! Great summary of how people understand and relate to genetics.

Capa do episodio Base by Base: Episode 285: ESBX (Tb927.3.1660) integrates ESB RNA Pol I localization with BES activation and VSG repression in Trypanosoma brucei

🎧 New PaperCast: ESBX (Tb927.3.1660) in Trypanosoma brucei links RNA Pol I localization at the ESB to activation of the active BES and repression of inactive BESs, revealing a key… https://basebybase.com/?episode=285-esbx-tb927-3-1660-integrates-esb-rna-pol-i-localization--4uuaqp

Capa do episodio Base by Base: Episode 284: FES, VSMC behavior and pleiotropic vascular genes identified by integrative functional genomics

🎧 New PaperCast: Integrative VSMC genomics and pooled CRISPR nominate pleiotropic vascular genes; FES loss raises MMPs, atherosclerosis and blood pressure — listen https://basebybase.com/?episode=284-fes-vsmc-behavior-and-pleiotropic-vascular-genes-identif-1txvz8x