Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12). [PDF]
Chen JY, Cai MJ, Chen XL, Ge YS.
europepmc +1 more source
The Spatiotemporal Genetic Architecture of Seed Vigor in Upland Cotton
Leveraging the semi‐automated SeedRanger platform, we profiled the germination kinetics of 356 cotton accessions at a 30‐min interval. This high‐throughput phenomic approach delineated a temporal genetic network comprising 541 stage‐specific loci. Crucially, functional validation identified FLA2 as a pivotal, auxin‐modulated regulator that orchestrates
Luyao Wang +32 more
wiley +1 more source
Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review. [PDF]
Mu Y +9 more
europepmc +1 more source
Placental Site Trophoblastic Tumor Acquires Immune Functions by Incorporating Host Maternal Genes
PSTT cells, through cell fusion with B cells, incorporate abundant non‐inherited maternal genes that are detectable by DNIMA. These hybrid cells acquire immunotherapy‐resistant genetic changes and increase the expression of B cell‐derived immune‐related molecules such as Ig, HLA, LILRB, SIGLEC10, and so on, creating an immunotolerant environment around
Kyosuke Kagami +15 more
wiley +1 more source
Genome-wide pervasiveness and localized variation of [Formula: see text]-mer-based genomic signatures in eukaryotes. [PDF]
Sadjadi N +4 more
europepmc +1 more source
Integrated clinical and mechanistic analyses identify GALNT7 as a ferroptosis‐suppressive regulator associated with immunotherapy resistance in non‐small cell lung cancer. GALNT7 depletion promotes lipid peroxidation, mitochondrial dysfunction, and ferroptosis, enhances CD8+ T‐cell activation and IFN‐γ production, and sensitizes tumors to PD‐1 blockade,
Jiadi Gan +11 more
wiley +1 more source
Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders. [PDF]
Mutlu MB +15 more
europepmc +1 more source
Mechanical Activation of Piezo1 Drives Osteoarthritis Through Kdm5c‐Mediated Epigenetic Silencing
Excessive mechanical stress activates Piezo1, triggering Ca2+‐dependent cytoskeletal forces that deform the nucleus and reduce H3K4me3. Kdm5c demethylates H3K4me3 at Col2a1 and Runx3 promoters. Kdm5c knockout rescues degradation. Repurposed telmisartan directly inhibits Kdm5c, blocking this axis and showing disease‐modifying efficacy in mouse OA models
Tianyou Kan +13 more
wiley +1 more source
A novel method for across-chromosome phasing without relative data. [PDF]
Sapin E, Kelly KM, Keller MC.
europepmc +1 more source
Upon JEV infection, ZNF33B recruits METTL14 to stabilize the METTL3‐METTL14 m6A methyltransferase complex, leading to increased m6A modification of host transcripts, including Trim25 mRNA. ZNF33B selectively binds m6A‐modified sites on Trim25 mRNA and accelerates its decay, resulting in reduced TRIM25 protein abundance.
Jian Du +9 more
wiley +1 more source

