Personnel Information

写真a

Gau Maki


Job title

Assistant Professor
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Graduating School 【 display / non-display 】

  • Saga University, Faculty of Medicine, 2011.03, Graduated

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Graduate School 【 display / non-display 】

  • Tokyo Medical and Dental University, Doctor's Course, 2023.03, Completed

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Campus Career 【 display / non-display 】

  • 2012.04
    -
    2013.03
    Tokyo Medical and Dental University， (Old Organization)Medical Hospital， Central Clinical Facilities， Professional Development Center， Resident
  • 2015.04
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    2016.03
    Tokyo Medical and Dental University， Graduate School of Medical and Dental Sciences， Medical and Dental Sciences， Bio-Environmental Response， Pediatrics and Developmental Biology， Resident
  • 2018.04
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    2019.03
    Tokyo Medical and Dental University， (Old Organization)Medical Hospital， Hospital Departments， Department of Pediatrics, Maternal and Woman's Medicine， Pediatrics， Project Assistant Professor
  • 2019.04
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    2023.03
    Tokyo Medical and Dental University， Graduate School of Medical and Dental Sciences， Medical and Dental Sciences， Division of Bio-Environmental Response， Department of Pediatrics and Developmental Biology， Graduate Student
  • 2023.04
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    Now
    Tokyo Medical and Dental University， Institute of Research， Research Facility Cluster， Life Science and Bioethics Research Center， Assistant Professor
  • 2023.04
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    Now
    Tokyo Medical and Dental University， Graduate School of Medical and Dental Sciences， Endowed Departments， Department of Nutrition and Metabolism in Cardiovascular Disease， Assistant Professor
  • 2023.04
    -
    Now
    Tokyo Medical and Dental University， Graduate School of Medical and Dental Sciences， Medical and Dental Sciences， Public Health， Life Sciences and Bioethics， Assistant Professor

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Qualification Acquired 【 display / non-display 】

  • Doctor

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Published Papers & Misc 【 display / non-display 】

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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. ( ichushi )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

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Conference Activities & Talks 【 display / non-display 】

  1. Eriko Adachi, Ryuichi Nakagawa, Atsumi Tsuji-Hosokawa, Maki Gau, Shizuka Kirino, Analia Yogi, Hikase Nakatani, Tomomi Yamaguchi, Masanori Murakami, Toshihiro Tajima, Tomonobu Hasegawa, Tetsuya Yamada, Tomohiro Morino, Osamu Ohara, Kenichi Kashimada. Development of a clinically applicable one-step PCR-based CYP21A2 analysis using long read sequences.. Human Genetics Asia 2023( 68th Annual Meeting of Japan Society of Human Genetics/ 14th Asia Pacific Conference on Human Genetics/ 22nd Annual meeting of East Asian Union of human Genetics Societies) 2023.10.14 Tokyo Japan

  2. Shizuka Kirino, Ryuichi Nakagawa, Kei Takasawa, Maki Gau, Atsumi Tsuji-Hosokawa, Liang Zhao, Josephine Bowles, Peter Koopman, Tomohiro Morio, Kenichi Kashimada.. Application of Cap analysis of gene expression (CAGE) in genetic analysis of mouse sex differentiation. Ninth International Symposium on the Biology of Vertebrate Sex Determination 2023.04.19 Kailua-Kona, HAWAII

  3. Tsuji-Hosokawa A, Watanabe K, Hashimoto A, Ishige N, Yajima H, Sutani A, Nakatani H, Gau M, Takasawa K, Kashimada K. The LC-MS/MS pilot study assay for 21-hydroxylase deficiency newborn screening revealed the high relevancy of 21DOF, (4AD + 17αOHP)/F, and 11DOF/17αOHP. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul KOREA（Web）

  4. Kirino S, Yogi A, Adachi E, Gau M, Nakatani H, Kanamori T, Udagawa T, Takasawa K, Kashimada K, Morio T. The first family case of 46,XX DSD due to pathogenic variant of WT1 Zinc Finger domain 4. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul KOREA（Web）

  5. Yogi A, Kashimada K, Iemura R, Nakatani H, Takasawa K, Gau M, Yamauchi T, Yoshida M, Morio T.. A case of BMP2 defficiency with short stature. The 12th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society 2022 2022.10.06 Seoul KOREA（Web）

  6. Nomura R, Gau M, Yamauchi T, Sutani A, Tsuji-Hosokawa A, Matsubara Y, Miyai K, Hosokawa S, Nishimura G, Kashimada K.. Myhre syndrome: a progressive connective tissue disorder with short stature. The 9th Biennial Scientific Meeting of the Asia Pacific Endocrine Society/ The 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology 2016.11.17 Tokyo Japan

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