Research field (2):
Fetal medicine/Pediatrics
, Metabolism and endocrinology
Research keywords (4):
Adrenal insufficiency
, Adrenal cortex
, Disorders of sex development
, steroid hormone
Research theme for competitive and other funds (17):
2022 - 2025 The role of ZNRF3/Znrf3 exon2 deletion on zonation and maintenance of the adrenal cortex
2021 - 2024 遺伝子改変マウスを用いたMIRAGE症候群における副腎機能低下症の病態解明
2019 - 2022 Identification of adrenogonadal progenitor cells in the gonads which can be reprogrammed into adrenal steroidogenic cells
2018 - 2021 The pathogenesis of MIRAGE syndrome revealed by model mice using genome editing
2016 - 2019 Elucidation of the pathophysiology of steroid hormone biosynthesis in lipoid congenital adrenal hyperplasia by establishing a mouse or cell line model
2015 - 2018 Model cell-line and model animals of MIRAGE syndrome
2014 - 2015 In vivo functional analysis of mutant steroidogenic acute regulatory proteins and remodeling of adrenal glands and gonads in congenital lipoid adrenal hyperplasia
2014 - 2015 Elucidation of genotype-phenotype association and identification of the novel responsible genes in patients with 46,XY disorders of sex development
2011 - 2014 Transcriptome analysis of steroidogenic cells in knockout mice lacking steroidogenic acute regulatory protein
2011 - 2013 Transcriptome analysis of steroidogenic cells in knockout mice lacking steroidogenic acute regulatory protein
2008 - 2011 The role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by BAC transgenesis in vivo
2008 - 2010 The role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by BAC transgenesis in vivo
2008 - 2009 Elucidation of the mechanism of cholesterol transport into the inner mitochondrial membrane during steroidogenesis using Star knockout mice
2006 - 2008 Targeted expression of enhanced green fluorescent protein to steroidogenic cells expressing steroidogenic acute regulatory protein by bacterial artificial chromosome transgenesis in vivo
2006 - 2007 Targeted expression of enhanced green fluorescent protein to steroidogenic cells expressing steroidogenic acute regulatory protein by bacterial artificial chromosome transgenesis in vivo
1997 - 1999 Genotype-phenotype association in Japanese patients with hypochondroplasia
1997 - 1998 Hypochondroplasiaの遺伝子型と表現型の相関に関する検討
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Papers (169):
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
Naoko Amano, Satoshi Narumi, Katsuya Aizu, Mari Miyazawa, Kohji Okamura, Hirofumi Ohashi, Noriyuki Katsumata, Tomohiro Ishii, Tomonobu Hasegawa. Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia. The Journal of Clinical Endocrinology & Metabolism. 2023
Kento Kawata, Takeshi Sato, Misa Honda, Satoshi Narumi, Kaori Kameyama, Tomohiro Ishii, Tomonobu Hasegawa. Parathyroid adenoma with a somatic CASR pathogenic variant: A pediatric case report. Pediatric blood & cancer. 2023. 70. 12. e30687
Yukiyo Nabeshima, Takeshi Sato, Hiroaki Zukeran, Rieko Komatsu, Satsuki Nakano, Yosuke Ichihashi, Takahiro Tominaga, Masayuki Miwa, Naoko Amano, Tomohiro Ishii, et al. Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees. Journal of pediatric endocrinology & metabolism : JPEM. 2023. 36. 8. 786-790
内田登, 内田登, 石井智弘, 西本紘嗣郎, 小原收, 柴田浩憲, 柴田浩憲, 石井加奈子, 石井加奈子, 中野靖浩, et al. Genetic and clinical features of childhood-onset familial aldosteronism in Japan. 日本小児内分泌学会学術集会プログラム・抄録集. 2023. 56th
Cellular Endocrinology in Health and Disease
Academic Press 2021
Cellular endocrinology in health and disease
Academic Press 2014
Education (1):
1986 - 1992 Keio University School of Medicine
Professional career (1):
医学博士 (慶應義塾大学)
Work history (7):
2017/02/01 - Keio University School of Medicine Department of Pediatrics Associate Professor
2013/05 - 2017/01/31 Keio University School of Medicine Department of Pediatrics Assistant professor
2005/04 - 2013/04 Keio University School of Medicine Department of Pediatrics Instructor
2000/07 - 2005/03 University of Texas Southwestern Medical Center Division of Endocrinology and Metabolism, Department of internal medicine Postdoctoral research fellow
1998/08 - 2000/06 Keio University School of Medicine Department of Pediatrics Instructor
1996/07 - 1998/07 Ota General Hospital Department of Pediatrics Residenct (Pediatrics)
1992/04 - 1994/06 Keio University School of Medicine, Department of Pediatrics Resident (Pediatrics)
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Committee career (14):
2022/04 - 現在 Japan Pediatric Society Delegate
2020/04 - 現在 the Japanese Society of Reproductive Endocrinology Board member
2017/10 - 現在 the Japanese Society for Pediatric Endocrinology Board member
2017/10 - 現在 日本小児内分泌学会 用語委員会
2017/05 - 現在 the Japanese Society of Reproductive Endocrinology Councilor
2015/07 - 現在 the Japan Society of Human Genetics Councilor
2014/07 - 現在 成長科学協会 成長ホルモン治療研究専門委員
2013/07 - 現在 成長科学協会 東京都地区委員
2011/04 - 現在 日本小児内分泌学会 性分化・副腎疾患委員
2011/04 - 現在 日本小児内分泌学会 渉外委員
2009/04 - 現在 the Japan Endocrine Society Delegate
2008/04 - 現在 the Japanese Society for Pediatric Endocrinology Councilor
2011/04 - 2017/09 日本小児内分泌学会 マススクリーニング委員
2012/04 - 2016/03 日本内分泌学会 内分泌代謝科専門医委員
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Awards (4):
2016/05 - Japan Pediatric Society Science Award
2014/09 - Japanese Society for Pediatric Endocrinology Science Award
2006/12/01 - Young Investigator’s Award in 2nd Congress of Asian Society for Pediatric Research
2006/06/01 - Travel Award in The Endocrine Society’s 88th annual meeting
Association Membership(s) (5):
The Japan Society of Human Genetics
, The Endocrine Society
, The Japan Endocrine Society
, The Japanese Society for Pediatric Endocrinology
, The Japan Pediatric Society