A Human ABC Transporter ABCC4 Gene SNP (rs11568658, 559 G > T, G187W) Reduces ABCC4-Dependent Drug Resistance nork Megumi Tsukamoto, Miho Yamashita, Tsuyoshi Nishi, Hiroshi Nakagawa

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A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature nork Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara

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Evaluating the usefulness of plasma chromogranin A measurement in cyclic ACTH-dependent Cushing’s syndrome nork Keisuke Kakizawa, Miho Yamashita, Yuto Kawauchi, Akira Ikeya, Kenji Ohba, Akio Matsushita

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Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands nork Yousuke Higuchi, Kosei Hasegawa, Natsuko Futagawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara

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Impairment of the Hypothalamus–Pituitary–Thyroid Axis Caused by Naturally Occurring <i>GATA2</i> Mutations In Vitro nork Yuki Sakai, Kenji Ohba, Shigekazu Sasaki, Akio Matsushita, Hiroko Misawa Nakamura, Go Kuroda, Daisuke Tsuriya, Miho Yamashita, Takafumi Suda

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CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant. nork Akira Ikeya, Mitsuko Nakashima, Miho Yamashita, Keisuke Kakizawa, Yuta Okawa, Hirotomo Saitsu, Shigekazu Sasaki, Hironobu Sasano, Takafumi Suda, Yutaka Oki

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DNA methylation analysis in malignant pheochromocytoma and paraganglioma nork Toshihiro Oishi, Kazumi Iino, Yuta Okawa, Keisuke Kakizawa, Shoko Matsunari, Miho Yamashita, Terumi Taniguchi, Masato Maekawa, Takafumi Suda, Yutaka Oki

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Reprogramming the body weight set point by a reciprocal interaction of hypothalamic leptin sensitivity and Pomc gene expression reverts extreme obesity nork Kavaljit H. Chhabra, Jessica M. Adams, Graham L. Jones, Miho Yamashita, Martin Schlapschy, Arne Skerra, Marcelo Rubinstein, Malcolm J. Low

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Partially redundant enhancers cooperatively maintain Mammalian pomc expression above a critical functional threshold. nork Daniel D Lam, Flavio S J de Souza, Sofia Nasif, Miho Yamashita, Rodrigo López-Leal, Veronica Otero-Corchon, Kana Meece, Harini Sampath, Aaron J Mercer, Sharon L Wardlaw, Marcelo Rubinstein, Malcolm J Low

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