Author

Y. Uchiyama

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Aug 2026

SLF2 and SMC5 dysfunction drives HSC aging and predisposes to MDS, defining a new inherited bone marrow failure syndrome.

It is demonstrated that SLF2 and SMC5 dysfunction drives premature HSC aging, bone marrow failure, and predisposition to MDS, revealing Atelis Syndrome as a previously unrecognized IBMFS.

Sho Shibata, K. Chonabayashi, Hirofumi Nakamura et al. · Leukemia · 0 citations

Open access Jul 2026

A hypofunctional PREX1 variant (p.Y191C) leads to neurodevelopmental abnormalities and epilepsy by attenuating RAC1 signaling.

Results indicate that reduced PREX1-RAC1 signaling leads to mislocalization, dendritic overgrowth, and neuronal hyperexcitability, which may underlie epilepsy in the human case.

Masashi Nishikawa, Yuri Uchiyama, Kazuyuki Nakamura et al. · Scientific Reports · 0 citations