Results 221 to 230 of about 355,136 (358)
Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD
Advanced Science, EarlyView.TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang +9 more
wiley +1 more source
Proteome-wide Mendelian randomization and colocalization analysis identify therapeutic targets for stroke. [PDF]
BMC NeurolZhao X +8 more
europepmc +1 more source
Advanced Science, EarlyView.Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He +16 more
wiley +1 more source
4D seismic tomography unveiling velocity increase prior to seismic swarms at the Tatun volcano group of Taiwan. [PDF]
Sci RepPu HC, Lin CH, Lai YC, Shih MH, Li YH.
europepmc +1 more source
USP10 Inhibits Ferroptosis via Deubiquinating POLR2A in Head and Neck Squamous Cell Carcinoma
Advanced Science, EarlyView.This study identifies USP10 as a novel deubiquitinase that antagonizes ferroptosis in head and neck squamous cell carcinoma (HNSCC). Mechanistically, USP10 directly stabilizes POLR2A protein through post‐translational deubiquitination, enabling POLR2A‐mediated transcriptional activation of SLC7A11, a key ferroptosis inhibitor.
Diekuo Zhang +13 more
wiley +1 more source