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 (11)：

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
Daisuke Ariyasu, Fusa Nagamatsu, Keiko Aso, Kazuhisa Akiba, Yukihiro Hasegawa. Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty. Endocrine journal. 2022
Kento Ikegawa, Rumi Hachiya, Kazuhisa Akiba, Yukihiro Hasegawa. Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: a case report. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. 2022. 31. 2. 87-92
Kazuhisa Akiba, Yuko Katoh-Fukui, Kei Yoshida, Satoshi Narumi, Mami Miyado, Yukihiro Hasegawa, Maki Fukami. Role of Liquid-Liquid Separation in Endocrine and Living Cells. Journal of the Endocrine Society. 2021. 5. 10. bvab126
Kazuhisa Akiba, Keiko Aso, Yukihiro Hasegawa, Maki Fukami. Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency. Journal of pediatric endocrinology & metabolism : JPEM. 2021. 34. 9. 1191-1195

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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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