🧬 Category

q-bio

5841 papers

🧬 biology

Comparative Analysis and 3D Modeling of Missense Variants in the HEXA Gene

This study resolves diagnostic discrepancies for uncertain HEXA missense variants associated with Tay-Sachs disease by correlating clinical and machine-learning classifications with 3D structural modeling, demonstrating that buried core residues induce higher rotamer strain and reduced flexibility compared to surface-exposed variants, thereby validating structural analysis as a tool for improving variant interpretation and therapeutic development.

Simran Soni, Vera Khodzhaeva2026-10-27
🧬 biology

The importance of allele dosage: a simulation study on genomic prediction and response to selection in triploid hybrid breeding

This simulation study demonstrates that utilizing proper four-state allele dosage encoding, rather than collapsing it to a diploid-like three-state model, significantly improves genomic prediction accuracy and long-term selection response in triploid hybrid breeding, particularly for traits with low dominance.

Kajal Gupta, Kashish Grover, Hercules Pereira, Roberto Fritsche-Neto2026-10-27
🧬 biology

Reciprocal T-cell and myeloid remodeling at relapse in diffuse large B-cell lymphoma

This study reveals that relapsed diffuse large B-cell lymphoma is characterized by reciprocal remodeling of the tumor microenvironment, featuring coordinated T-cell depletion and myeloid-driven immunosuppression that correlates with poor outcomes, whereas late relapsing patients retain T-cell diversity and exhibit better survival, highlighting the critical role of TME evolution in guiding future therapeutic strategies.

C Keane, Fiona Swain, Melinda Burgess, Muhammed B Sabdia, Sarah Kempe, Ahmed Mehdi, Zachary Hawula, Nella Tuczko, Rakin (…)2026-10-27
🧬 biology

Self-Renewal Transcription Factor OCT4 Sustains BRCA/Fanconi Anemia Pathway Activity to Suppress R-Loop-Driven Genome Instability in HG-SOC

This study reveals that the transcription factor OCT4 sustains genome integrity in high-grade serous ovarian carcinoma by acting as a master regulator of the BRCA/Fanconi anemia pathway to suppress R-loop-driven replication stress and innate immune activation, thereby identifying the OCT4-CtIP axis as a critical therapeutic target for inducing vulnerability in these tumors.

Stefan Schoeftner, Alessandro Framarini, Andrea Parlante, Eyong Etengene, Michele Giaquinto, Erika Zampa, Gabriele Cechu (…)2026-10-27
🧬 biology

Patient-derived human endometrial organoids recapitulate epithelial polarity and hormone-responsive features associated with endometrial receptivity

This study demonstrates that patient-derived human endometrial organoids can be stably expanded long-term while retaining glandular architecture, donor-specific transcriptional features, and hormone-responsive programs, thereby serving as a physiologically relevant model for investigating endometrial receptivity and reproductive disorders.

Meixiang Zhang, Mingxin Tian, Youtao Xie, Wen Sun, Huan Yao, Haoyu Zhang, Hongxia Wang, Jingli Wang, Liansha Huang2026-10-27
🧬 biology

Panax notoginseng saponins Attenuate Pulmonary Fibrosis by Targeting the miR-16-5p/c-Jun Signaling Axis

This study demonstrates that Panax notoginseng saponins (PNS) attenuate pulmonary fibrosis by upregulating miR-16-5p, which suppresses the c-Jun signaling axis and its downstream fibrotic effectors, thereby inhibiting endothelial-mesenchymal transition.

Xing Gu, Zhihui Wu, Juan Pang, Wei Yang, Jing Lv, Jun Li, Ting Duan, Ruixuan Wang, Yanjun Zhao, Wenjie Li, Xing Gu, Linh (…)2026-10-27
🧬 biology

Genome-Wide Identification of the CHS Gene Family in Platycodon grandiflorus and Expression Analysis Under Multiple Phytohormone Treatments

This study identifies 20 CHS genes in *Platycodon grandiflorus*, elucidates their evolutionary expansion via segmental duplication, and characterizes their distinct expression patterns in response to various phytohormones, particularly methyl jasmonate, to advance the understanding of flavonoid biosynthesis in this medicinal plant.

Xiaoqin Wang, Jun hong Li, Yan Xia, Min Fang, Dong Yan2026-10-27