Using Computational Approaches to Enhance the Interpretation of Missense Variants in the PAX6 Gene

Medicine, Ophthalmology, Life Sciences, Genetics,
PAX6 gene   missense variants   computational approaches   eye development   loss-of-function   clinical settings  

Improving the Interpretation of PAX6 Gene Missense Variants Through Computational Methods Background The PAX6 gene is a highly conserved transcription factor that plays a crucial role in eye development. Heterozygous loss-of-function variants in PAX6 can lead to a range of ophthalmic disorders, including aniridia. However, many PAX6 gene missense v...

Mapping Variant Effects on Anti-tumor Hallmarks of Primary Human T Cells with Base-Editing Screens

Mapping Variant Effects on Anti-tumor Hallmarks of Primary Human T Cells with Base-Editing Screens

Medicine, Oncology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
base editing   T cells   cancer immunotherapy   single-nucleotide variants   gain-of-function   loss-of-function   immune cell therapy  

Application of Base Editing Screening Technology in Tumor Immunotherapy T Cell Research Immune cell therapies, such as T cell transfer therapy and CAR T cell therapy, have become important clinical cancer treatment tools in certain disease fields. However, most cancer patients fail to benefit from cell therapies, possibly due to inherent changes in...