Article
Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors.
Scientific reports - 9 Sept 2020
Hamabata Takayuki, Umeda Katsutsugu, Kouzuki Kagehiro, Tanaka Takayuki, Daifu Tomoo, Nodomi Seishiro, Saida Satoshi, Kato Itaru, Baba Shiro, Hiramatsu Hidefumi, Osawa Mitsujiro, Niwa Akira, Saito Megumu K, Kamikubo Yasuhiko, Adachi Souichi, Hashii Yoshiko, Shimada Akira, Watanabe Hiroyoshi, Osafune Kenji, Okita Keisuke, Nakahata Tatsutoshi, Watanabe Kenichiro, Takita Junko, Heike Toshio
Abstract excerpt
Shwachman-Diamond syndrome (SDS), an autosomal recessive disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities, is caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene, which plays a role in ribosome biogenesis. Although the causative genes of congenital disorders frequently involve regulation of embryogenesis, the role of the SBDS gene in...
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