Association of a nonsense mutation at the codon for Glu 54 in the GM2A gene with AB variant G¦M¦2 gangliosidosis, characterizing the intron/exon junctions of the gene [PDF]
Chen, Biao
openalex
Lipid Droplet‐Localized Spindle Apparatus Coiled‐Coil Protein 1 Regulates Lipid Droplet Distribution
SPDL1‐L, a long isoform of SPDL1, is identified as a bona fide lipid droplet‐associated protein that acts as a dynein adaptor to drive perinuclear clustering of lipid droplets. By linking lipid droplets to the microtubule network, SPDL1‐L extends the function of SPDL1 beyond mitosis and contributes to lipid droplet organization and nuclear remodeling ...
Honggang Su +10 more
wiley +1 more source
The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis. [PDF]
Jelsig AM +7 more
europepmc +1 more source
MET Exon 14 Skipping in Non-Small Cell Lung Cancer.
R. Heist +17 more
semanticscholar +1 more source
Hippocampal single ‐nucleus transcriptomes and chromatin accessibility after mild traumatic brain injury reveal dentate granule neuron vulnerability driven by ferroptosis. The c‐Jun–Tmsb4x–Slc2a2 axis modulates lipid peroxidation and iron dysregulation.
Manrui Li +13 more
wiley +1 more source
Sevabertinib, a Reversible HER2 Inhibitor with Activity in Lung Cancer. [PDF]
Siegel F +25 more
europepmc +1 more source
Divergence of duplicate genes in exon–intron structure
Guixia Xu +3 more
semanticscholar +1 more source
A Microbiota‐ and IL‐15‐Dependent Innate‐Like B Cell Progenitor Expressing E4BP4
This work identifies CD3.NKp46.CD19.NK1.1. NK‐B cells enriched in PDK1‐deficient yet present in wild‐type bone marrow. IL‐15 (via CD122) and TLR9‐microbiota signaling maintain their E4BP4 expression. These cells demonstrate innate immunity, preferentially differentiate into B cells, and unveil a novel microbiota‐ and IL‐15‐dependent regulatory pathway ...
Junming He +11 more
wiley +1 more source
Actionable driver gene alterations in early-stage non-small cell lung cancer: a review. [PDF]
Attili I +9 more
europepmc +1 more source
Here it is revealed that the costimulatory receptors CD27 and ICOS are essential for the long‐term maintenance of PD‐1high CD8+ TRM cells following influenza infection. PD‐L1 blockade enhances the proliferation and activation of these cells through Nur77 activation downstream of the CD27/ICOS signaling axis, thereby boosting host immunity against ...
Yuanyuan Chen +16 more
wiley +1 more source

