Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]
Nagano C +8 more
europepmc +1 more source
GPCRs in CAR‐T Cell Immunotherapy: Expanding the Target Landscape and Enhancing Therapeutic Efficacy
Chimeric antigen receptor T cell therapy faces dual challenges of target scarcity and an immunosuppressive microenvironment in solid tumors. This review highlights how G protein‐coupled receptors can serve as both novel targets to expand the therapeutic scope and functional modules to enhance CAR‐T cell efficacy.
Zhuoqun Liu +11 more
wiley +1 more source
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes. [PDF]
Srinivasan S +6 more
europepmc +1 more source
Comparative Single‐Cell Transcriptomic Atlas Reveals the Genetic Regulation of Reproductive Traits
A cross‐species single‐cell transcriptomic atlas of reproductive and central nervous system tissues from sheep and humans reveals conserved cellular programs and regulatory networks that regulated fertility. Integration with GWAS for sheep lifetime average litter size identifies UNC5–SLIT–BMP signaling as a core pathway coordinating neuroendocrine ...
Bingru Zhao +8 more
wiley +1 more source
Alternative splicing in cancer drug resistance: Mechanisms and therapeutic prospects (Review). [PDF]
Zhu W +9 more
europepmc +1 more source
Genome‐Wide Association Analyses Reveal the Genetic Basis of EMS Mutagenesis Efficiency in Rice
Based on large‐scale screening of 420 rice accessions, GWAS identified the Rc locus as a key regulator of EMS mutagenesis efficiency. Functional Rc alleles enhance both seed survival and genome‐wide mutation frequency by boosting antioxidant enzyme activities (CAT, SOD, POD) and reducing oxidative damage.
Peizhou Xu +9 more
wiley +1 more source
Butterfly brains change in morphology and in gene splicing patterns after brief pheromone exposure. [PDF]
Dion E, Toh YP, Zhu D, Monteiro A.
europepmc +1 more source
Development of Dimethylsulfonium Probes for Broad Profiling of Methyllysine Reader Proteins
Development of oligoglycine‐based dimethylsulfonium probes for unbiased crosslinking to methyllysine readers. The general probe facilitates profiling of site‐specific methyllysine readers, evaluation of selectivity and activity of reader inhibitors, and global profiling of methyllysine readers.
Jinyu Yang +3 more
wiley +1 more source
A Stringent dUPlex‐activated Error Robust (SUPER) DNAzyme system enables real‐time imaging of alternative mRNA splicing (e.g., Bcl‐xL/Bcl‐xS) in living cells via target‐triggered split‐DNAzyme reassembly and dual‐color fluorescence. It also achieves mRNA‐selective knockdown through DNAzyme‐based gene regulation, serving as a versatile tool for splicing
Mengru Lin +6 more
wiley +1 more source
MYC-mediated transcriptional control of splicing factors promotes RNA splicing in activated B lymphocytes. [PDF]
Li S +7 more
europepmc +1 more source

