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

Sho Shibata K. Chonabayashi Hirofumi Nakamura Yasuko Matsumura Hiroki Kawahara Yoshio Okamoto Shohei Yamamoto M. Nishikawa Y. Ochi Y. Uchiyama Y. Oh Akitsu Hotta K. Masuda Naomichi Matsumoto Seishi Ogawa Y. Yoshida A. Takaori-Kondo
Aug 2026 · Leukemia · 1 citation · 62 references
Medicine

TL;DR

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.

DOI PubMed Semantic Scholar
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