Article
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
Blood - 15 Apr 2021
Mu Anfeng, Hira Asuka, Niwa Akira, Osawa Mitsujiro, Yoshida Kenichi, Mori Minako, Okamoto Yusuke, Inoue Kazuko, Kondo Keita, Kanemaki Masato T, Matsuda Tomonari, Ito Etsuro, Kojima Seiji, Nakahata Tatsutoshi, Ogawa Seishi, Tanaka Keigo, Matsuo Keitaro, Saito Megumu K, Takata Minoru
Abstract excerpt
We have recently discovered Japanese children with a novel Fanconi anemia-like inherited bone marrow failure syndrome (IBMFS). This disorder is likely caused by the loss of a catabolic system directed toward endogenous formaldehyde due to biallelic variants in ADH5 combined with a heterozygous ALDH2*2 dominant-negative allele (rs671), which is associated with alcohol-induced Asian flushing....
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