Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Kanako Tanase-Nakao"'
Autor:
Yuki Kawashima-Sonoyama, Keisuke Okuno, Tomotsune Dohmoto, Kanako Tanase-Nakao, Satoshi Narumi, Noriyuki Namba
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially
Externí odkaz:
https://doaj.org/article/62f1f29e2ac4411caaa6ff479889244e
Autor:
Sho Ishiwa, Koichi Kamei, Kanako Tanase-Nakao, Shinsuke Shibata, Kunihiro Matsunami, Ichiro Takeuchi, Mai Sato, Kenji Ishikura, Satoshi Narumi
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background MIRAGE syndrome is a recently discovered rare genetic disease characterized by myelodysplasia (M), infection (I), growth restriction (R), adrenal hypoplasia (A), genital phenotypes (G), and enteropathy (E), caused by a gain-of-fun
Externí odkaz:
https://doaj.org/article/33bedf3d887a45e5af2b33bc0d95a0a9
Autor:
Maiko Kakita-Kobayashi, MD, Yohei Ueda, MD, Kanako Tanase-Nakao, MD, Takeshi Usui, MD, PhD, Yoshiki Watanabe, MD, Tetsuro Yamamoto, MD, PhD, Kazutaka Nanba, MD, Tetsuya Tagami, MD, PhD, Mitsuhide Naruse, MD, PhD, Ryo Asato, MD, PhD, Akira Shimatsu, MD, PhD
Publikováno v:
AACE Clinical Case Reports, Vol 1, Iss 2, Pp e92-e95 (2015)
ABSTRACT: Objective: Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma (MTC) are autosomal dominant inherited diseases caused by genetic mutations of the RET proto-oncogene. Prophylactic total thyroidectomy in carriers of a
Externí odkaz:
https://doaj.org/article/2a5ce0d372004fdd8ff9d8d795e14c94
Autor:
Yohei Ueda, MD, Takeshi Usui, MD, Tomokazu Watanabe, MD, Keiichi Kaneko, MD, PhD, Rieko Nakatani, MD, Maiko Kakita-Kobayashi, MD, Kanako Tanase-Nakao, MD, Kazutaka Nanba, MD, Mika Tsuiki, MD, PhD, Tetsuya Tagami, MD, PhD, Mitsuhide Naruse, MD, PhD, Yuko Toyoda, MD, Keiko Homma, PhD, Tomonobu Hasegawa, MD, PhD, Akira Shimatsu, MD, PhD
Publikováno v:
AACE Clinical Case Reports, Vol 1, Iss 3, Pp e156-e160 (2015)
ABSTRACT: Objective: 17 Alpha-hydroxylase/17,20-lyase deficiency (17OHD) is a form of congenital adrenal hyperplasia caused by homozygous or compound heterozygous mutations in the CYP17A1 gene. Impaired activities of 17 alpha-hydroxylase and 17,20-ly
Externí odkaz:
https://doaj.org/article/7494cc8a15664250b0bee88429803fcb
Autor:
Megumi Hatano1,2, Kanako Tanase-Nakao3 nakao-k@ncchd.go.jp, Erika Uehara3, Reiko Iwano4, Koji Muroya5, Satoshi Narumi3,6
Publikováno v:
Clinical Pediatric Endocrinology. Apr2024, Vol. 33 Issue 2, p94-100. 7p.
Autor:
Chiho Sugisawa, Satoshi Narumi, Kanako Tanase-Nakao, Ayako Hoshiyama, Nami Suzuki, Hidemi Ohye, Miho Fukushita, Masako Matsumoto, Ai Yoshihara, Natsuko Watanabe, Kiminori Sugino, Akira Hishinuma, Jaeduk Yoshimura Noh, Ryohei Katoh, Matsuo Taniyama, Koichi Ito
Publikováno v:
Thyroid. 33:556-565
Autor:
Kanako Tanase-Nakao1 nakao-k@ncchd.go.jp, Koji Muroya2, Masanori Adachi2, Kiyomi Abe3, Tomonobu Hasegawa3, Satoshi Narumi1,3
Publikováno v:
Clinical Pediatric Endocrinology. 2022, Vol. 31 Issue 4, p250-255. 6p.
Autor:
Ichiro Takeuchi, Kanako Tanase-Nakao, Ayame Ogawa, Tohru Sugawara, Osuke Migita, Makoto Kashima, Touko Yamazaki, Akihiro Iguch, Yasuhiro Naiki, Toru Uchiyama, Junya Tamaoki, Hiroki Maeda, Hirotaka Shimizu, Toshinao Kawai, Kosuke Taniguchi, Hiromi Hirata, Makoto Kobayashi, Kimikazu Matsumoto, Kiyoshi Naruse, Kenichiro Hata
Publikováno v:
Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p239-243, 5p
Autor:
Kanako Tanase-Nakao1 nakao-k@ncchd.go.jp, Masanobu Kawai2, Kazuko Wada3, Masayo Kagami1, Satoshi Narumi1
Publikováno v:
Clinical Pediatric Endocrinology. 2021, Vol. 30 Issue 4, p163-169. 7p.
Publikováno v:
Clinical Pediatric Endocrinology. 30:163-169
Gain-of-function variants in SAMD9, which resides on chromosome 7, cause MIRAGE syndrome that is associated with congenital adrenal insufficiency and gonadal dysgenesis. We previously reported a Japanese patient with MIRAGE syndrome carrying a de nov