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PODCAST

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.

science life sciences

All Episodes

00:18:46

240: CYFIP1 controls cortical axon development by...

Base by Base ·

2025/12/26

️ Episode 240: CYFIP1 controls cortical axon development by modulating calcium In this episode of PaperCast Base by Base, we explore Reduction of CYFIP1 delays callosal axon growth and arborization by lowering intracellular calcium and impairing mitochondrial function Study Highlights:In vivo, Cyfip1+/- mice show delayed callosal axon growth at P5 and reduced axonal branching during P15 arborization that normalizes by P30. Cyfip1+/- cortical neurons have

en-us

00:18:46

240: CYFIP1 controls cortical axon development by...

Base by Base ·

2025/12/26

️ Episode 240: CYFIP1 controls cortical axon development by modulating calcium In this episode of PaperCast Base by Base, we explore Reduction of CYFIP1 delays callosal axon growth and arborization by lowering intracellular calcium and impairing mitochondrial function Study Highlights:In vivo, Cyfip1+/- mice show delayed callosal axon growth at P5 and reduced axonal branching during P15 arborization that normalizes by P30. Cyfip1+/- cortical neurons have

en-us

00:19:21

239: Genomic Adaptations of the Svalbard Reindeer

Base by Base ·

2025/12/25

️ Episode 239: Genomic Adaptations of the Svalbard Reindeer In this episode of PaperCast Base by Base, we explore Comparative whole-genome analyses identify 150 differentiated genomic regions and candidate genes linked to fat metabolism, energy conservation, cold tolerance, reduced body size, fur morphology, and circadian rhythm that likely underpin Svalbard reindeer adaptation to the High Arctic Study Highlights:The authors sequenced and analyzed 62

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00:19:21

239: Genomic Adaptations of the Svalbard Reindeer

Base by Base ·

2025/12/25

️ Episode 239: Genomic Adaptations of the Svalbard Reindeer In this episode of PaperCast Base by Base, we explore Comparative whole-genome analyses identify 150 differentiated genomic regions and candidate genes linked to fat metabolism, energy conservation, cold tolerance, reduced body size, fur morphology, and circadian rhythm that likely underpin Svalbard reindeer adaptation to the High Arctic Study Highlights:The authors sequenced and analyzed 62

en-us

00:18:14

238: Germline polymorphisms shape antibody light...

Base by Base ·

2025/12/24

️ Episode 238: Germline polymorphisms shape antibody light chain repertoires In this episode of PaperCast Base by Base, we explore Long-read sequencing of IGK and IGL paired with AIRR-seq shows that common germline SNVs, SVs, and alleles drive inter-individual differences in light chain gene usage and CDR3 properties Study Highlights:The authors combined targeted long-read genomic sequencing of IGK and IGL in 177 donors with matched AIRR-seq (IGK n=164,

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00:18:14

238: Germline polymorphisms shape antibody light...

Base by Base ·

2025/12/24

️ Episode 238: Germline polymorphisms shape antibody light chain repertoires In this episode of PaperCast Base by Base, we explore Long-read sequencing of IGK and IGL paired with AIRR-seq shows that common germline SNVs, SVs, and alleles drive inter-individual differences in light chain gene usage and CDR3 properties Study Highlights:The authors combined targeted long-read genomic sequencing of IGK and IGL in 177 donors with matched AIRR-seq (IGK n=164,

en-us

00:20:00

237: Tracing enteric pathogens in Africa with...

Base by Base ·

2025/12/23

️ Episode 237: Tracing enteric pathogens in Africa with metagenomics and WGS In this episode of PaperCast Base by Base, we explore This study combines whole-genome sequencing and metagenomics to map the diversity, abundance, and genomic relationships of enteric foodborne pathogens across human, animal, food and environmental samples in four African LMICs Study Highlights:The project sampled 3,417 items across Ethiopia, Mozambique, Nigeria and Tanzania

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00:20:00

237: Tracing enteric pathogens in Africa with...

Base by Base ·

2025/12/23

️ Episode 237: Tracing enteric pathogens in Africa with metagenomics and WGS In this episode of PaperCast Base by Base, we explore This study combines whole-genome sequencing and metagenomics to map the diversity, abundance, and genomic relationships of enteric foodborne pathogens across human, animal, food and environmental samples in four African LMICs Study Highlights:The project sampled 3,417 items across Ethiopia, Mozambique, Nigeria and Tanzania

en-us

00:19:54

236: XPD translocation and genetic disease etiology

Base by Base ·

2025/12/22

️ Episode 236: XPD translocation and genetic disease etiology In this episode of PaperCast Base by Base, we explore Computational modeling reveals how ATP-driven conformational cycles of the XPD helicase drive directional 5′→3′ translocation on single-stranded DNA and how mutations disrupt this process to cause disease Study Highlights:The authors combined molecular dynamics, partial nudged elastic band path optimization, transition path sampling, and

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00:17:56

235: Maternal H3K9 methyltransferases control aRMAE...

Base by Base ·

2025/12/21

️ Episode 235: Maternal H3K9 methyltransferases control aRMAE in C. elegans In this episode of PaperCast Base by Base, we explore Using dual-color reporters in C. elegans, the study shows maternal H3K9 methyltransferases MET-2 and SET-25 antagonistically regulate autosomal random monoallelic expression initiated in the early embryo Study Highlights:Dual-color fluorescent reporter alleles in C. elegans intestine cells enabled single-cell quantification

en-us

00:17:56

235: Maternal H3K9 methyltransferases control aRMAE...

Base by Base ·

2025/12/21

️ Episode 235: Maternal H3K9 methyltransferases control aRMAE in C. elegans In this episode of PaperCast Base by Base, we explore Using dual-color reporters in C. elegans, the study shows maternal H3K9 methyltransferases MET-2 and SET-25 antagonistically regulate autosomal random monoallelic expression initiated in the early embryo Study Highlights:Dual-color fluorescent reporter alleles in C. elegans intestine cells enabled single-cell quantification of

en-us

00:17:56

234: MTHFR genotype and methionine metabolism predict...

Base by Base ·

2025/12/20

️ Episode 234: MTHFR genotype and methionine metabolism predict COVID-19 severity In this episode of PaperCast Base by Base, we explore IMPACC longitudinal metabolomics and genomics analyses show that disruptions in one‑carbon/methionine metabolism together with MTHFR C677T genotype at hospital admission improve prediction of severe COVID‑19 and long COVID risk Study Highlights:IMPACC profiled plasma metabolites (global and targeted) from over 1,000

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00:18:49

233: Mechanistic basis of NuA3 recognition and H3K14...

Base by Base ·

2025/12/19

️ Episode 233: Mechanistic basis of NuA3 recognition and H3K14 acetylation In this episode of PaperCast Base by Base, we explore Cryo-EM structures of the yeast NuA3 complex reveal how a cooperative Sas3–Nto1 binding cleft recognizes the H3 tail and directs acetylation of H3K14 Study Highlights:The authors report cryo-EM structures of NuA3 in apo, acetyl-CoA-bound, and acetyl-CoA plus H3 tail-bound states at ~3.7, 3.1, and 3.2 Å resolution respectively

en-us

00:18:48

233: Mechanistic basis of NuA3 recognition and H3K14...

Base by Base ·

2025/12/19

️ Episode 233: Mechanistic basis of NuA3 recognition and H3K14 acetylation In this episode of PaperCast Base by Base, we explore Cryo-EM structures of the yeast NuA3 complex reveal how a cooperative Sas3–Nto1 binding cleft recognizes the H3 tail and directs acetylation of H3K14 Study Highlights:The authors report cryo-EM structures of NuA3 in apo, acetyl-CoA-bound, and acetyl-CoA plus H3 tail-bound states at ~3.7, 3.1, and 3.2 Å resolution respectively

en-us

00:17:59

232: Lamin A/C steers fork restart via H3K9me3 and...

Base by Base ·

2025/12/18

️Episode 232: Lamin A/C steers fork restart via H3K9me3 and PARylation In this episode of PaperCast Base by Base, we explore Nucleoplasmic Lamin A/C, together with LAP2α, enforces active replication fork slowing during mild replication stress by promoting local H3K9me3 and ADP-ribosylation to restrain RECQ1-mediated restart and protect genome stability Study Highlights:Lamin A/C dynamically associates with replication factories throughout the nucleus and

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00:17:59

232: Lamin A/C steers fork restart via H3K9me3 and...

Base by Base ·

2025/12/18

️Episode 232: Lamin A/C steers fork restart via H3K9me3 and PARylation In this episode of PaperCast Base by Base, we explore Nucleoplasmic Lamin A/C, together with LAP2α, enforces active replication fork slowing during mild replication stress by promoting local H3K9me3 and ADP-ribosylation to restrain RECQ1-mediated restart and protect genome stability Study Highlights:Lamin A/C dynamically associates with replication factories throughout the nucleus and

en-us

00:17:01

231: Transcription start sites as a germline...

Base by Base ·

2025/12/17

️Episode 231: Transcription start sites as a germline mutational hotspot In this episode of PaperCast Base by Base, we explore This study identifies a pronounced germline mutational hotspot centered on transcription start sites (TSSs) driven in part by early embryonic mosaic variants and transcription-associated DNA damage Study Highlights:Extremely rare variants show a localized excess of non(CpG > TpG) mutations around TSSs extending several hundred

en-us

00:17:01

231: Transcription start sites as a germline...

Base by Base ·

2025/12/17

️Episode 231: Transcription start sites as a germline mutational hotspot In this episode of PaperCast Base by Base, we explore This study identifies a pronounced germline mutational hotspot centered on transcription start sites (TSSs) driven in part by early embryonic mosaic variants and transcription-associated DNA damage Study Highlights:Extremely rare variants show a localized excess of non(CpG > TpG) mutations around TSSs extending several hundred

en-us

00:18:27

230: MIDEAS Y654S hyperactivates MiDAC in a dominant...

Base by Base ·

2025/12/17

️Episode 230: MIDEAS Y654S hyperactivates MiDAC in a dominant neurodevelopmental syndrome In this episode of PaperCast Base by Base, we explore A recurrent de novo MIDEAS p.Tyr654Ser variant disrupts an autoinhibitory loop in the MiDAC complex, increasing HDAC1 deacetylase activity and causing a multisystem neurodevelopmental disorder Study Highlights:Two unrelated probands carry the same de novo heterozygous MIDEAS p.Tyr654Ser variant and present with

en-us

00:18:27

230: MIDEAS Y654S hyperactivates MiDAC in a dominant...

Base by Base ·

2025/12/17

️Episode 230: MIDEAS Y654S hyperactivates MiDAC in a dominant neurodevelopmental syndrome In this episode of PaperCast Base by Base, we explore A recurrent de novo MIDEAS p.Tyr654Ser variant disrupts an autoinhibitory loop in the MiDAC complex, increasing HDAC1 deacetylase activity and causing a multisystem neurodevelopmental disorder Study Highlights:Two unrelated probands carry the same de novo heterozygous MIDEAS p.Tyr654Ser variant and present with

en-us

420 results

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