KEIKO MATSUBARA

Matsubara Keiko | KEIKO MATSUBARA

Affiliation and department：

Research field (3)： Cell biology , Molecular biology , Fetal medicine/Pediatrics

Research keywords (6)： clinical sequencing , assisted reproductive technologies , advanced maternal age , DNA methylation , Prader-Willi syndrome , imprinting disorders

Research theme for competitive and other funds (10)：

2022 - 2025 Creation of treatment strategies for imprinting disorders through hydroxymethylation profiling
2020 - 2022 網羅的遺伝子・エピゲノム解析による性成熟疾患の病因の解明
2019 - 2022 The role of hydroxymethylation in imprinting diseases caused by abnormal methylation
2016 - 2019 Pathologic clarification and development of new medicine for imprinting disorders in terms of hydroxymethylation
2015 - 2018 Elucidation of the onset mechanism of human imprinting disorders using the method of methylation analysis with high-density DNA methylation arrays

Show all

Papers (123)：

Erika Uehara, Kiyomi Abe, Kanako Tanase-Nakao, Koji Muroya, Atsushi Hattori, Keiko Matsubara, Maki Fukami, Satoshi Narumi. Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants. Thyroid : official journal of the American Thyroid Association. 2024
Matsubara K, Ohgami Y, Okamura K, Aoto S, Fukami M, Shimada Y. Machine learning trial to detect sex differences in simple sticker arts of 1606 preschool children. Minerva Pediatr. 2024. 76. 3. 343-349
Yoko Kuroki, Atsushi Hattori, Keiko Matsubara, Maki Fukami. Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders. Annals of pediatric endocrinology & metabolism. 2024. 29. 3. 156-160
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
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

ｍore...

MISC (40)：

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
高橋路子, 蟹江慶太郎, 坂東弘教, 山本雅昭, 福岡秀規, 井口元三, 山田倫子, 森貞直哉, 松原圭子, 鏡雅代, et al. 肥満のゲノムサイエンス減量外来受診後にパイロシークエンス法によって診断し得たPrader-Willi症候群の一例. 肥満研究. 2022. 27. Suppl. 176-176
高橋路子, 蟹江慶太郎, 坂東弘教, 山本雅昭, 福岡秀規, 井口元三, 山田倫子, 森貞直哉, 松原圭子, 鏡雅代, et al. 肥満のゲノムサイエンス減量外来受診後にパイロシークエンス法によって診断し得たPrader-Willi症候群の一例. 肥満研究. 2022. 27. Suppl. 176-176
鏡雅代, 福家智子, 中村明枝, 中村明枝, 井上毅信, 川嶋明香, 原香織, 松原圭子, 佐野伸一朗, 佐野伸一朗, et al. Silver-Russell症候群の臨床診断基準を満たした173名における遺伝学的原因および遺伝学的原因別臨床像の検討. 日本人類遺伝学会大会プログラム・抄録集. 2022. 67th (CD-ROM)
山澤一樹, 中嶋萌子, 久保井徹, 横田一郎, 杉野典子, 小川昌宏, 盆野元紀, 曳野俊治, 佐藤和夫, 中嶋敏紀, et al. SGA児309例の包括的メチル化解析によるインプリンティング疾患の探索. 日本人類遺伝学会大会プログラム・抄録集. 2022. 67th (CD-ROM)

ｍore...

Education (1)：

1996 - 2002 Hamamatsu University School of Medicine Faculty of Medicine School of Medicine

Work history (4)：

2023/07 - 現在 National Center for Child Health and Development Division of Diversity Research chief
2022/05 - 現在 National Center for Child Health and Development
2021/10 - 現在 National Center for Child Health and Development
2008/04 - 現在 National Center for Child Health and Development Department of molecular endocrinology

※ Researcher’s information displayed in J-GLOBAL is based on the information registered in researchmap. For details, see here.

Return to Previous Page