Maayan Salton

The paper identifies SF3B1K700E-induced splicing changes in K562 cells that affect cell cycle regulators, with functional consequences in mitosis and cancer survival.

This study shows SMCHD1 loss causes DUX4 expression in FSHD2 by disrupting splicing of DNMT3B, leading to hypomethylation and muscle abnormalities.

This study investigates the roles of TAL1 isoforms in hematopoiesis and cell growth, finding that TAL1-short promotes apoptosis and can act as a tumor suppressor.

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

The paper investigates how transcription factors regulate intron retention through open chromatin analysis and deep learning models, finding zinc finger factors are prevalent in intron retention events.

This study shows KDM3A regulates alternative splicing of cell-cycle genes after DNA damage through phosphorylation and interaction with splicing factors.

This study shows that hepatic CB1R regulates soluble leptin receptor (sOb-R) levels through CHOP, contributing to leptin resistance in diet-induced obesity.