2016 - 2019 Pathologic clarification and development of new medicine for imprinting disorders in terms of hydroxymethylation
2015 - 2018 Epigenotype-phenotype analysis of Silver-Russell syndrome pathogenesis mechanism
2014 - 2018 Molecular evolutionary genetics analysis and elucidation of pathogenic mechanism of GNAS related imprinting disease
2015 - 2018 Elucidation of the onset mechanism of human imprinting disorders using the method of methylation analysis with high-density DNA methylation arrays
2013 - 2016 The role of hydroxymethylation in congenital anomaly syndromes caused by aberrant methylation
2013 - 2016 Clarification of (epi)genetic mechanisms involved in the development of human imprinting disorders
2010 - 2015 Clarification of underlying factors involved in the establishment of sex differences
2011 - 2014 Paternal uniparental disomy 14 and related conditions: Placental expression analyses and histological examination
2010 - 2012 Clarification of (epi)genetic causes leading to the development of human imprinting disorders
2009 - 2010 ヒト生殖系列におけるインプリンティング制御機構の解明
2008 - 2010 Elucidation of the pathogenic mechanism and the clinical spectrum of disorders associated with imprinted genes on human chromosome 14
2007 - 2008 Molecular genetic analysis of Silver-Russell syndrome and intrauterine growth retardation
2005 - 2006 Clarification of the genetic mechanisms underlying the regulation for the expression of SHOX, a causative gene for short stature and sdyschomndrosteosis
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Papers (112)：
Kaori Yamoto, Hirotomo Saitsu, Yumiko Ohkubo, Masayo Kagami, Tsutomu Ogata. Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review. Clinical epigenetics. 2024. 16. 1. 73-73
Masanori Iwanishi, Tohru Yorifuji, Yukako Yamamoto, Jun Ito-Kobayashi, Akira Shimatsu, Shingo Kikugawa, Masayo Kagami. A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus. Internal medicine (Tokyo, Japan). 2024
Atsushi Hattori, Atsuhito Seki, Naoto Inaba, Kazuhiko Nakabayashi, Kazue Takeda, Kuniko Tatsusmi, Yasuhiro Naiki, Akie Nakamura, Keisuke Ishiwata, Kenji Matsumoto, et al. Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes. Scientific reports. 2024. 14. 1. 8069-8069
Tatsuki Urakawa, Shinichiro Sano, Sayaka Kawashima, Akie Nakamura, Hirohito Shima, Motoki Ohta, Yuki Yamada, Ai Nishida, Hiromune Narusawa, Yoshiaki Ohtsu, et al. (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B. European journal of endocrinology. 2023
Thomas Eggermann, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Andrea Riccio, Zeynep Tümer, Jennifer M Kalish, Maithé Tauber, Jessica Duis, et al. Imprinting disorders. Nature reviews. Disease primers. 2023. 9. 1. 33-33
青砥早希, 松原圭子, 松原圭子, 山澤一樹, 秦健一郎, 秦健一郎, 鏡雅代, 中林一彦. Development of a reference database and toolkit for rare undiagnosed disease-specific epivariant analysis. 日本分子生物学会年会プログラム・要旨集(Web). 2023. 46th
1988 - 1994 Asahikawa Medical University School of Medicine
Professional career (1)：
医学博士 (北海道大学大学院)
Work history (3)：
2012/04 - 現在 国立成育医療研究センター研究所 分子内分泌研究部臨床内分泌研究室 室長
2010/11 - 2012/03 国立成育医療研究センター研究所 分子内分泌研究部 上級研究員
2003/04 - 2010/10 国立成育医療研究センター研究所 分子内分泌研究部 研究員
Committee career (5)：
日本小児遺伝学会 評議員、用語委員会委員、次世代育成委員会委員
BMC Medical Genomics Associate editor
Clinical Epigenetics Editorial Board
日本人類遺伝学会 評議員
日本小児内分泌学会 評議員、用語委員会委員、遺伝子診断委員会委員、倫理委員会委員
Awards (10)：
2022/03 - 第22回小児医学川野賞基礎医学分野
2018/04 - 日本小児科学会学術研究賞
2013/07 - 第17回 小児分子内分泌研究会 優秀演題賞
2012/04 - 第35回 日本小児遺伝学会 優秀演題賞 2011年8月
2011/09 - 第11回 旭川医科大学医学部医学科同窓会 医学奨励賞
2011/08 - 第34回 日本小児遺伝学会 優秀演題賞
2010/10 - 第55回 日本人類遺伝学会 奨励賞
2010/10 - 第44回 日本小児内分泌学会 学術賞
2007/11 - 第41回 日本小児内分泌学会 優秀演題賞
2006/07 - 第10回 小児分子内分泌研究会 優秀演題賞
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Association Membership(s) (6)：
日本小児遺伝学会
, THE MOLECULAR BIOLOGY SOCIETY OF JAPAN
, The Japan Endocrine Society
, THE JAPAN SOCIETY OF HUMAN GENETICS
, THE JAPANESE SOCIETY FOR PEDIATRIC ENDOCRINOLOGY
, JAPAN PEDIATRIC SOCIETY
