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Blood|January 29, 2021
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiencyAnfeng Mu, Asuka Hira, Akira Niwa, et al.
Stem Cell Reports|May 3, 2024
H1FOO-DD promotes efficiency and uniformity in reprogramming to naive pluripotencyAkira Kunitomi, Ryoko Hirohata, Mitsujiro Osawa, et al.
The Journal of Experimental Medicine|April 23, 2024
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndromeYukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, et al.
Nature|April 3, 2020
Recapitulating the human segmentation clock with pluripotent stem cellsMitsuhiro Matsuda, Yoshihiro Yamanaka, Maya Uemura, et al.
The Journal of Experimental Medicine|April 28, 2022
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivationMasahiko Nishitani-Isa, Kojiro Mukai, Yoshitaka Honda, et al.
Scientific Reports|September 10, 2020
Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitorsTakayuki Hamabata, Katsutsugu Umeda, Kagehiro Kouzuki, et al.
Biochemical and Biophysical Research Communications|February 21, 2018
Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitorsKoichi Oshima, Norikazu Saiki, Michihiro Tanaka, et al.
Pediatric Research|April 24, 2025
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutationsMadori T Osawa, Yasunori Fujita, Kazuki Kagami, et al.
Journal of Medical Genetics|April 25, 2019
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosisNao Otomo, Kazuki Takeda, Shunsuke Kawai, et al.
The Journal of Clinical Investigation|November 14, 2018
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiencyBertrand Boisson, Yoshitaka Honda, Masahiko Ajiro, et al.
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