論文・総説 - 我有　茉希

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  1. Ryuta Orimoto, Eriko Adachi, Maki Gau, Yoko Saito, Haruki Yamano, Hisae Nakatani, Shizuka Kirino, Kengo Moriyama, Yohei Yamaguchi, Tomoko Mizuno, Taku Ishii, Masayuki Yoshida, Kenichi Kashimada, Kei Takasawa. Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review. Journal of Human Genetics. 2025.03; 70 (6): 321-324. ( PubMed, DOI )

  2. 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 )

  3. Adachi E, Nakagawa R, Tsuji-Hosokawa A, Gau M, Kirino S, Yogi A, Nakatani H, Takasawa K, Yamaguchi T, Kosho T, Murakami M, Tajima T, Hasegawa T, Yamada T, Morio T, Ohara O, Kashimada K. A MinION-Based Long-Read Sequencing Application with One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency. Journal of clinical endocrinology and metabolism. 2023.10; 109 (3): 750-760. ( PubMed, DOI )

  4. Yogi A, Iemura R, Nakatani H, Takasawa K, Gau M, Yamauchi T, Yoshida M, Moriyama K, Ishii T, Hosokawa S, Yamada M, Suzuki H, Kosaki K, Kashimada K, Morio T. BMP2 is a potential causative gene for isolated dextrocardia situs solitus. European journal of medical genetics. 2023.08; 66 (9): 104820. ( PubMed, DOI )

  5. Kirino Shizuka, Yogi Analia, Adachi Eriko, Nakatani Hisae, Gau Maki, Iemura Ryosei, Yamano Haruki, Kanamori Toru, Mori Takayasu, Sohara Eisei, Uchida Shinichi, Okamoto Kentaro, Udagawa Tomohiro, Takasawa Kei, Morio Tomohiro, Kashimada Kenichi. Phenotypic Variation in 46,XX Disorders of Sex Development due to the 4th Zinc Finger Domain Variant of WT1: A Familial Case Report SEXUAL DEVELOPMENT. 2023.02; 17 (1): 51-55. ( PubMed, DOI )

  6. Gau Maki, Suga Ryota, Hijikata Atsushi, Kashimada Ayako, Takagi Masatoshi, Nakagawa Ryuichi, Takasawa Kei, Shirai Tsuyoshi, Kashimada Kenichi, Morio Tomohiro. A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands FRONTIERS IN ENDOCRINOLOGY. 2023.01; 13 1033074. ( PubMed, DOI )

  7. Watanabe Kazuhiro, Tsuji-Hosokawa Atsumi, Hashimoto Atsuko, Konishi Kaoru, Ishige Nobuyuki, Yajima Harumi, Sutani Akito, Nakatani Hisae, Gau Maki, Takasawa Kei, Tajima Toshihiro, Hasegawa Tomonobu, Morio Tomohiro, Kashimada Kenichi. The High Relevance of 21-Deoxycortisol, (Androstenedione+17 alpha-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17 alpha-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2022.11; 107 (12): 3341-3352. ( PubMed, DOI )

  8. Kirino Shizuka, Suzuki Mitsuyoshi, Ogawa Takuya, Takasawa Kei, Adachi Eriko, Gau Maki, Takahashi Ken, Ikeno Mitsuru, Yamada Mamiko, Suzuki Hisato, Kosaki Kenjiro, Moriyama Keiji, Yoshida Masayuki, Morio Tomohiro, Kashimada Kenichi. Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022.09; 65 (11): 104623. ( PubMed, DOI )

  9. Nakagawa Ryuichi, Takasawa Kei, Gau Maki, Tsuji-Hosokawa Atsumi, Kawaji Hideya, Murakawa Yasuhiro, Takada Shuji, Mikami Masashi, Narumi Satoshi, Fukami Maki, Sreenivasan Rajini, Maruyama Tetsuo, Tucker Elena J., Zhao Liang, Bowles Josephine, Sinclair Andrew, Koopman Peter, Hayashizaki Yoshihide, Morio Tomohiro, Kashimada Kenichi. Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency HUMAN MOLECULAR GENETICS. 2022.07; 31 (13): 2223-2235. ( PubMed, DOI )

  10. Saito Yoko, Takasawa Kei, Gau Maki, Yamauchi Takeru, Nakagawa Ryuichi, Miyakawa Yuichi, Sutani Akito, Hosokawa-Tsuji Atsumi, Takishima Shigeru, Matsubara Yohei, Morio Tomohiro, Kashimada Kenichi. Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency Clinical Pediatric Endocrinology. 2021.10; 30 (4): 155-161. ( 医中誌 )

  11. Takasawa Kei, Miyakawa Yuichi, Saito Yoko, Adachi Eriko, Shidei Tsunanori, Sutani Akito, Gau Maki, Nakagawa Ryuichi, Taki Atsuko, Kashimada Kenichi, Morio Tomohiro. Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation CLINICAL ENDOCRINOLOGY. 2021.06; 94 (6): 940-948. ( PubMed, DOI )

  12. Gau Maki, Konishi Kaoru, Takasawa Kei, Nakagawa Ryuichi, Tsuji-Hosokawa Atsumi, Hashimoto Atsuko, Sutani Akito, Tajima Toshihiro, Hasegawa Tomonobu, Morio Tomohiro, Kashimada Kenichi. The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients CLINICAL ENDOCRINOLOGY. 2021.02; 94 (2): 229-236. ( PubMed, DOI )

  13. Yamauchi Takeru, Imamura Masatoshi, Takasawa Kei, Nakajima Keisuke, Nakagawa Ryuichi, Gau Maki, Sugie Manabu, Taki Atsuko, Kawai Masahiko, Kashimada Kenichi, Morio Tomohiro. Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants ENDOCRINE. 2020.10; 70 (1): 71-77. ( PubMed, DOI )

  14. Yamauchi T, Takasawa K, Kamiya T, Kirino S, Gau M, Inoue K, Hoshino A, Kashimada K, Kanegane H, Morio T. Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome. Pediatric diabetes. 2019.11; 20 (7): 1035-1040. ( PubMed, DOI )

  15. Satoh Kaoru, Wakejima Yoko, Gau Maki, Kiguchi Tomoyuki, Matsuda Nozomi, Takasawa Reiko, Takasawa Kei, Nishioka Masato, Shimohira Masayuki. Risk of coronary artery lesions in young infants with Kawasaki disease: need for a new diagnostic method INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES. 2018.03; 21 (3): 746-754. ( PubMed, DOI )

  16. Gau Maki, Takasawa Kei. Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. 2017.09; 30 (9): 989-993. ( PubMed, DOI )

  17. 我有 茉希, 鹿島田 健一. 【小児の負荷試験2019】副腎皮質系機能検査　メトピロン(メチラポン)負荷試験 小児内科. 2019.04; 51 (4): 461-464. ( 医中誌 )

  18. 江本 留奈, 我有 茉希, 木口 智之, 竹田 清香, 松田 希, 高澤 玲子, 高澤 啓, 西岡 正人, 黒部 仁, 下平 雅之. 再発を繰り返しリンパ節生検で確定診断を行った菊池病の11歳男児例 埼玉県医学会雑誌. 2017.12; 52 (1): 263-268. ( 医中誌 )

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