This study identifies recessive variants in the NOS1AP-C1orf226 intergenic locus causing monogenic kidney disease and shows responsiveness to anti-proteinuric treatment.

Nature Communications · Nov 27, 2025Peer-reviewedGenetic & Genomic Medicine

A kidney specific mouse model to study the effects of in vivo induction of Yamanaka factors

Katharina Lemberg, Gijs A. C. Franken, Korbinian Maria Riedhammer, Selina Hölzel, Kirollos Yousef, Kraisoon Lomjansook, Gina S Kalkar, Caroline Maria Kolvenbach, Daniel S. Marchuk, Elena Zion, Ken Saida, Florian Buerger, Friedhelm Hildebrandt

This study investigates the effects of in vivo induction of Yamanaka factors (OKS) in a kidney-specific mouse model to enhance tissue repair after acute kidney injury, finding that while feasible, it carries risks of oncogenic transformation.

bioRxiv · Aug 30, 2025 · PreprintDevelopmental Biology

Regulation of human development by ubiquitin chain editing of chromatin remodelers

David B. Beck, Mohammed Abul Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara, Ken Saida, Precilla D’Souza, Joann Norma Bodurtha, Weiyi Mu, Kristin W. Baranano, Noriko Miyake, Raymond Wang, Marlies J. E. Kempers, Yutaka Nishimura, , Achim A Werner

This study identifies OTUD5 as essential for chromatin remodeling during development, showing its role in preventing degradation of chromatin regulators and maintaining proper gene expression networks.

bioRxiv · Jan 23, 2020 · PreprintGenetics