Modeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic Telangiectasia

This study introduces novel mouse models of Hereditary Hemorrhagic Telangiectasia that recapitulate the somatic second-hit mutations found in patients, demonstrating that these models exhibit more severe and persistent vascular malformations than traditional knockout models, thereby providing a superior platform for investigating long-term disease progression and therapeutic interventions.

Bartoletti, A. P., Bavishi, S., K C, R. + 1 more2026-02-22📄 molecular biology

Defective BRCA1-mediated DNA end resection drives tandem duplication formation and FANCM synthetic lethality

This study demonstrates that Group 1 tandem duplication formation and FANCM synthetic lethality are specific consequences of defective BRCA1-mediated DNA end resection, distinguishing the tumorigenic mechanisms of Brca1 exon 11 mutations from those of coiled-coil domain mutants that retain resection competence.

Scully, R., Namrata, N., Marin Gonzalez, A. + 7 more2026-02-22📄 molecular biology

SMCHD1 loss re-wires MYOD1 enhancer nexuses and chromatin accessibility landscapes in muscle cells

This study reveals that SMCHD1 acts as a critical architectural constraint in human myoblasts by maintaining enhancer organization and suppressing hyperactive enhancer networks, as its loss triggers widespread chromatin accessibility changes and rewires MYOD1 into aberrant "enhancer nexuses" that drive transcriptional dysregulation relevant to facioscapulohumeral muscular dystrophy type 2.

Huang, Z., Cui, W., Klaiss, A. + 1 more2026-02-22📄 molecular biology

Collagen IV of basement membrane: V. Bromide-mediated sulfilimine bonds interlock the quaternary structure of NC1-hexamer of scaffolds enabling metazoan evolution.

This study demonstrates that bromide-mediated sulfilimine bonds, catalyzed by the evolutionarily conserved enzyme peroxidasin, covalently interlock the quaternary structure of Collagen IV NC1-hexamers across diverse metazoans, a critical mechanism that stabilized basement membrane scaffolds and enabled the evolution of multicellularity.

Clarke, B. P., Pedchenko, V., Pedchenko, T. + 9 more2026-02-21📄 molecular biology

The Tor pathway, ribosome concentration, and wobble decoding mediate inhibitory effects of the Leu-Pro CUC-CCG codon pair in Saccharomyces cerevisiae.

This study reveals that the inhibitory effect of the conserved Leu-Pro CUC-CCG codon pair in *Saccharomyces cerevisiae* is mediated by wobble decoding via tRNALeu(UAG) and ribosome collisions, with its impact modulated by ribosome concentration and the TOR pathway to potentially regulate gene expression during starvation.

Bruno, B. S., Platten, E. M., Houston, L. + 2 more2026-02-21📄 molecular biology

The long non-coding RNA ACHLYS modulates biomolecular condensates to regulate alternative splicing in root development

This study reveals that the conserved long non-coding RNA ACHLYS regulates alternative splicing during Arabidopsis root development by directly interacting with the splicing factor NSRa to modulate its biomolecular condensates and phase separation, thereby fine-tuning the transcriptome output essential for organogenesis.

Heidecker, M., Mammi, P., Bergelt, T. + 10 more2026-02-20📄 molecular biology

Castling, a novel therapeutic concept for rewiring pathological gene-expression networks, enabled by the TRIPLE technology

This paper introduces "Castling," a novel therapeutic strategy that rewires pathological gene networks by swapping disease-promoting and protective microRNAs using the TRIPLE genome-editing technology, which was successfully demonstrated to delay CAR T cell dysfunction in a chronic antigen stimulation model.

Antony, D., Roman Azcona, M. S., Kalinski, H. + 15 more2026-02-19📄 molecular biology