332: When Chromatin Filters Force: Age, AP-1, and Fibroblast Mechanotransduction
Liao Y et al., PNAS - Human dermal fibroblasts from young and old donors were embedded in 3D collagen and exposed to mechanical tension and TGF-β. Combining bulk RNA‑seq, ATAC‑seq, imaging, and pertur...
2 Huhti 22min
331: Bi-allelic NDUFA5 variants and complex I mitochondriopathy
Tan et al et al., The American Journal of Human Genetics - This report identifies bi-allelic NDUFA5 variants in four individuals from three families causing an isolated mitochondrial complex I deficie...
31 Maalis 26min
330: 5ULTRA: Mapping 5′ UTR variants that alter protein translation
Chaldebas M et al., The American Journal of Human Genetics - Chaldebas et al. present 5ULTRA, a computational pipeline that integrates uORF databases, Kozak-motif features, splicing prediction, and a ...
30 Maalis 22min
329: Large future genetic diversity losses predicted despite habitat protection
Mualim KS et al., Proceedings of the National Academy of Sciences - This study develops spatiotemporal population-genetic models calibrated with genomic data to predict how habitat loss and fragmentat...
30 Maalis 22min
328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization
Zhou A et al., Human Genetics and Genomics Advances - Comparing LD‑pruning, COJO, SuSiE and PCA in haptoglobin (HP) cis‑region data, the study finds including non‑lead variants substantially increases...
27 Maalis 23min
327: Bi-allelic ATG12 variants impair ATG12-ATG5 conjugation, LC3 lipidation and neural development
Lambton J et al., The American Journal of Human Genetics - Bi-allelic ATG12 variants disrupt ATG12‑ATG5 conjugation and LC3 lipidation, impairing autophagy in patient cells and model systems and causi...
27 Maalis 19min
326: DUO-1 protects REC-8 cohesin and synaptonemal complex stability in Caenorhabditis elegans meiosis
Strand LG et al., Proc. Natl. Acad. Sci. U.S.A - In C. elegans germline, the deubiquitinase DUO-1 is required for assembly and active maintenance of the synaptonemal complex and REC-8 cohesin, prevent...
25 Maalis 24min
325: cis-pcQTL mapping reveals allelic proxitropy across neighboring human genes
Lawrence et al., The American Journal of Human Genetics - Using a cis-principal-component (pcQTL) approach in human GTEx tissues, the authors uncover novel multi-gene regulatory variants and 33% more ...
24 Maalis 23min
