Akiba Kazuhisa

アキバカズヒサ | Akiba Kazuhisa

Affiliation and department：
Other affiliations (1)：

National Center for Child Health and Development

Research field (3)： Fetal medicine/Pediatrics , Metabolism and endocrinology , Medical biochemistry

Research keywords (6)：分子遺伝学 , 人類遺伝学 , 小児科学 , 先天代謝異常学 , 内分泌学 , 基礎医学

Research theme for competitive and other funds (3)：

2023 - 2025 1 細胞解像度での下垂体細胞ホルモン制御メカニズムの解明
2022 - 2025 POU1F1 βアイソフォーム異常にもとづく先天性下垂体機能低下症の疾患概念確立
2019 - 2022 Establishment of a method to assess the pathogenicity of a deep intron mutation of POU1F1/Pou1f1

Papers (15)：

Kazuhisa Akiba, Hiroaki Zukeran, Yukihiro Hasegawa, Maki Fukami. Initial clinical manifestations in a young male with RFX6-variant-associated diabetes. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2024. 33. 4. 224-228
Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, et al. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature genetics. 2024
Erika Uehara, Naoaki Hori, Kanako Tanase-Nakao, Kazuhisa Akiba, Hidefumi Sueoka, Keiko Matsubara, Satoshi Narumi. Congenital Hypothyroidism with thyroid in situ: a case report with NKX2-1 and DUOX2 hypomorphic variants. Hormone research in paediatrics. 2024
Hiroaki Zukeran, Kazuhisa Akiba, Shinji Higuchi, Jun Mori, Tohru Yorifuji, Yukihiro Hasegawa. A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2024. 33. 3. 174-180
Kazuhisa Akiba, Yukihiro Hasegawa, Yuko Katoh-Fukui, Miho Terao, Shuji Takada, Tomonobu Hasegawa, Maki Fukami, Satoshi Narumi. POU1F1/Pou1f1 c.143-83A > G variant disrupts the branch site in pre-mRNA and leads dwarfism. Endocrinology. 2022. 164. 2

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MISC (13)：

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Education (2)：

2004 - 2010 Keio University School of Medicine
2000 - 2003 麻布高校

Professional career (1)：

Doctor of Philosophy (Keio University)

Work history (5)：

2024/03 - 現在 National Center for Child Health and Development
2016/09 - 現在国立成育医療研究センター分子内分泌研究部研究員
2015/04 - 2024/03 東京都立小児総合医療センター内分泌・代謝科
2012/04 - 2015/03 東京都立小児総合医療センター後期レジデント
2010/04 - 2012/03 横須賀共済病院初期臨床研修医

Committee career (2)：

2024/02 - 現在先天性高インスリン血症ガイドライン改訂作成委員
2023/10 - 現在一般社団法人日本小児内分泌学会評議員

Awards (2)：

2022/12 - 日本人類遺伝学会第67回大会大会最優秀ポスター賞 POU1F1/Pou1f1 c.143-83A>G variant disrupts the branch site in pre-mRNA and leads growth failure in mice
2021/10 - 日本小児内分泌学会若手優秀演題賞深部イントロンPOU1F1変異の多階層機能解析系の構築:c.143-83A>Gは分枝部位破壊によるスプライス異常を起こす

Association Membership(s) (7)：

日本内分泌学会 , 日本スポーツ協会公認スポーツドクター , THE MOLECULAR BIOLOGY SOCIETY OF JAPAN , JAPANESE SOCIETY FOR INHERITED METABOLIC DISEASES , THE JAPANESE SOCIETY FOR PEDIATRIC ENDOCRINOLOGY , JAPAN PEDIATRIC SOCIETY , 日本人類遺伝学会

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