78: Unloading Lipids: TTYH2 Meets APOE
Sukalskaia A et al., Nature - This Nature study identifies APOE as an interaction partner of human TTYH2, maps their endosomal colocalization and binding site by cryo-EM, and shows that TTYH2 accelera...
17 Heinä 202514min
77: REX: a range extender for long-distance enhancer activity
Bower G et al., Nature - This paper identifies a conserved cis element, REX, and a [C/T]AATTA homeodomain motif signature that are necessary and sufficient to convert short- and medium-range limb enha...
16 Heinä 202516min
️ 76: Whole-genome Ancestry of an Old Kingdom Egyptian
️ Episode 76: Whole-genome Ancestry of an Old Kingdom Egyptian In this episode of PaperCast Base by Base, we explore the first 2× coverage whole-genome sequence recovered from a high-status individual...
15 Heinä 202513min
75: How Metabolism Shapes Enzyme Structures Over 400 Million Years
Lemke O et al., Nature - A deep structural and evolutionary analysis of 11,269 enzyme structures across Saccharomycotina reveals how metabolic context sculpts protein architecture. The study integrate...
14 Heinä 202514min
74: Benchmarking TCR-epitope predictors with ePytope-TCR
Drost F et al., Cell Genomics - Drost et al. integrated 21 pre-trained sequence-based TCR-epitope predictors into ePytope-TCR and benchmarked them on a viral single-cell repertoire and deep mutational...
13 Heinä 202520min
73: Family history and genetics in dementia
König T et al., Genetics in Medicine - A retrospective study of 701 memory clinic patients tested whether stratifying by age at onset and family history enriches for diagnostically relevant genetic fi...
12 Heinä 202515min
72: POC5 ciliopathy: retinal, endocrine and neuromuscular syndrome
Vulto-van Silfhout AT et al., Genetics in Medicine - A cohort study of twelve families shows that bi-allelic loss-of-function variants in POC5 cause a multisystem syndrome characterized by rod-cone dy...
11 Heinä 202519min
71: ELFN1 Deficiency: Mechanisms and Clinical Spectrum
Dore R et al., Genetics in Medicine - This episode reviews a multi-center study that defines ELFN1 deficiency as a recessive neurodevelopmental disorder. The authors report new patients with biallelic...
10 Heinä 202525min
