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

RNA · Dec 24, 2025Peer-reviewedMolecular Biology

SMCHD1 loss triggers DUX4 expression by disrupting splicing in FSHD2

Eden Engal, Aveksha Sharma, Uria Aviel, Nadeen Taqatqa, Sarah Juster, Shiri Jaffe‐Herman, Mercedes Bentata, Ophir Geminder, Adi Gershon, Reyut Lewis, Gillian Kay, Merav Hecht, Silvina Epsztejn‐Litman, Marc Gotkine, Vincent Mouly, , Yotam Drier

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

Science Advances · May 29, 2024Peer-reviewedGenomics

Isoforms of the TAL1 transcription factor have different roles in hematopoiesis and cell growth

Aveksha Sharma, Shani Mistriel-Zerbib, Rauf Ahmad Najar, Eden Engal, Mercedes Bentata, Nadeen Taqatqa, Sara Dahan, Klil Cohen, Shiri Jaffe‐Herman, Ophir Geminder, Mai Baker, Yuval Nevo, Inbar Plaschkes, Gillian Kay, Yotam Drier, , Maayan Salton

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.

PLoS Biology · Jun 28, 2023Peer-reviewedMolecular Biology

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G. Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Saeed Abd Elmaksoud, , Hagar Mor‐Shaked

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

medRxiv · Jun 19, 2023 · PreprintGenetic & Genomic Medicine