東京科学大学 · 医歯学総合研究科

研究关键词clinical genetics・genetic counseling・hereditary disorders・Xp21 deletion・HYAL2 deficiency・neuromuscular diseases・gonadal development

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• Shizuka Kirino, Ryuichi Nakagawa, Maki Gau, Kei Takasawa, Yasuhiro Murakawa, Hideya Kawaji, Yoshihide Hayashizaki, Tomohiro Morio, Kenichi Kashimada. Analysis of Functional Cis-regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development. Sexual Development. 2025.01; 1-19. ( PubMed , DOI )2025
• Makiko Egawa, Taro Ishiguro, Eriko Takamine, Sayako Takahashi, Mariko Komine, Hiroko Kohbata, Yuka Ozasa, Maki Gau, Yusuke Ebana, Kinya Ishikawa, Masayuki Yoshida. Predictive Genetic Testing and Genetic Counseling for Hereditary Neuromuscular Diseases in Japan: A Case Series of 40 Clients Neurology and Clinical Neuroscience. 2025.08;2025
• Gau M, Iemura R, Orimoto R, Adachi E, Saito Y, Yamano H, Nakatani H, Kirino S, Kuno H, Moriyama K, Yamaguchi Y, Oitani Y, Sugie M, Mizuno T, Ishii T, Yoshida M, Kashimada K, Takasawa K. Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature. Endocrine journal. 2025.11; ( PubMed , DOI )2025
• Yamano H, Kagawa R, Saito Y, Iemura R, Adachi E, Maki G, Yamauchi T, Nakagawa R, Sutani A, Takishima S, Kitahata F, Murakawa M, Isoda T, Kamiya T, Okada S, Morio T, Takasawa K, Kashimada K. Severe hepatic steatosis contributes to liver dysfunction in non-obese patients with insulin-resistant diabetes mellitus after hematopoietic stem cell transplantation. Pediatrics international : official journal of the Japan Pediatric Society. 2025.01; 67 (1): e70192. ( PubMed , DOI )2025

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