Takaki Asano, Kosuke Noma, Yoko Mizoguchi, Shuhei Karakawa, Satoshi Okada. Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research. Immunological Reviews. 2023
Kunihiko Moriya, Tomohiro Nakano, Yoshitaka Honda, Miyuki Tsumura, Masato Ogishi, Motoshi Sonoda, Masahiko Nishitani-Isa, Takashi Uchida, Mohamed Hbibi, Yoko Mizoguchi, et al. Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity. The Journal of experimental medicine. 2023. 220. 9
Yoko Mizoguchi, Chihiro Tani, Mika Aizawa, Keita Tomioka, Maiko Shimomura, Shiho Nishimura, Yoshiko Matsubara, Daisuke Iwaki, Kiyoto Tanaka, Hiroshi Kawaguchi, et al. Age-specific incidence of joint disease in paediatric patients with haemophilia: A single-centre real-world outcome based on consecutive US examination. Haemophilia : the official journal of the World Federation of Hemophilia. 2023. 29. 5. 1359-1365
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, Takaki Asano, Fumiaki Sakura, Moe Tamaura, Yusuke Imanaka, Yoko Mizoguchi, Shuhei Karakawa, Seiichi Hayakawa, et al. Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC. Research square. 2023
Fumiaki Sakura, Kosuke Noma, Takaki Asano, Kay Tanita, Etsushi Toyofuku, Kentaro Kato, Miyuki Tsumura, Hiroshi Nihira, Kazushi Izawa, Kanako Mitsui-Sekinaka, et al. A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis. PNAS nexus. 2023. 2. 4. pgad104
Yoko Mizoguchi, Sebastian Hesse, Monika Linder, Piotr Grabowsky, Juri Rappsilber, Masao Kobayashi, Christoph Klein. Proteotypic Imbalances in Neutrophil Granulocytes with Monogenic Disorders Associated with Congenital Neutropenia. PEDIATRIC BLOOD & CANCER. 2020. 67
Yoko Mizoguchi, Sebastian Hesse, Monika Linder, Natalia Zietara, Marcin Lyszkiewicz, Yanshan Liu, Megumi Tatematsu, Piotr Grabowski, Kaarin Ahomaa, Tim Jeske, et al. Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes. BLOOD. 2019. 134
Shiho Nishimura, Keita Tomioka, Maiko Shimomura, Yoko Mizoguchi, Shinobu Sasaki, Masao Kobayashi. The Efficacy of Ultrasound Joint Examination for the Detection of Arthropathy in Patients with Hemophilia. PEDIATRIC BLOOD & CANCER. 2018. 65. S68-S68
A Comparison of Myelopoiesis from Induced Pluripotent Stem Cells with a Mutation in ELANE between Cyclic Neutropenia and Severe Congenital Neutropenia
(BLOOD 2015)
MSMD Patients with IFN-g-STAT1 Signaling Defect Present Enhanced Osteoclastogenesis and Bone Resorption
(Blood 2015)
STAT1 Gain-of-Function in Patients with Chronic Mucocutaneous Candidiasis Can be Detected By the Excessive Phosphorylation of STAT1 in Peripheral Blood Monocytes
(BLOOD 2014)