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J-GLOBAL ID：201801008090001719 Update date: Mar. 25, 2025

Fukami Maki

フカミマキ | Fukami Maki

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Affiliation and department：
Homepage URL (1)： http://nrichd.ncchd.go.jp/endocrinology/index.htm

Research field (1)： Fetal medicine/Pediatrics

Research keywords (1)：分子内分泌、ゲノム、性分化、成長

Research theme for competitive and other funds (36)：

2022 - 2025 三次元組織化胎盤発生モデルを基盤とした分化誘導最適化AIモデルの開発
2022 - 2025 Development of AAV vector for in vivo treatment for congenital adrenal hyperplasia
2021 - 2024 新たなアプローチによるヒト性分化の分子機構解明
2021 - 2024 Functional and structural characterization of the human Y chromosome
2020 - 2024 生命発動と器官発生・制御に関わるヒト受精胚分子機序の解明

2020 - 2023 多因子疾患としての性分化疾患・生殖機能障害発症機序の解明

2019 - 2022 Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells

2017 - 2022 性スペクトラム研究の運営

2017 - 2022 Molecular basis of human sex spectrum

2017 - 2020 Study for chromosomal instability leading to human disorders

2017 - 2020 Identification of the germline-derived GNAS gain-of-function mutations and clarification of the novel mechanism leading to GNAS loss-of-function

2017 - 2019 Genetic analysis for hereditary diseases of the optic nerve and retine

2016 - 2019 Elucidation of pathogenic mechanisms of disorders of sex development using systematic molecular analysis

2016 - 2019 Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells

2016 - 2019 Development of diagnosis program and clinical application with congenital visual impairment patients for tailor-made medicine

2016 - 2019 Trial to identify the causative gene of periodic strabismus

2016 - 2019 Clarification of molecular basis of type 1 diabetes using novel technologies

2015 - 2018 Application of MSD-AFLP method to explore epigenetic imprints focusing on exposure levels of environmental chemicals

2015 - 2018 Epigenotype-phenotype analysis of Silver-Russell syndrome pathogenesis mechanism

2014 - 2017 Clarification of molecular basis of pubertal disorders and disorders of sex development

2014 - 2017 Relationship between chemical exposure biomarkers and DNA methylation levels in the malformations of external reproductive system of young males

2014 - 2017 Genetic mechanism of split-hand/foot malformation with or without long bone deficiency

2013 - 2016 Extra-Adrenal Induction of Cyp21a1 Ameliorates Systemic Steroid Metabolism in a Mouse Model of Congenital Adrenal Hyperplasia

2013 - 2016 Combined action of environmental and genetical factors on mail genital abnormalities

2013 - 2015 Genetic and environmental factors involved in human genomic instability

2010 - 2015 Clarification of underlying factors involved in the establishment of sex differences

2011 - 2014 Investigation for molecular basis of hypothalamo-pituitary-gonadal dysfunction

2010 - 2013 Extra-adrenal expression of Cyp21a1 for gene therapy of congenital adrenal hyperplasia

2008 - 2010 Molecular mechanism leading to impaired sexual differentiation and reproductive failure in patients with MAMLD mutations

2007 - 2009 Novel sex development gene CXorf6 : determination of clinical spectrum in mutation positive patients and clarification of underlying factors

2004 - 2008 Comprehensive mutation and susceptibility analyses and its clinical application in disorders of sex development and reproductive dysfunction

2006 - 2007 Clarification of molecular bases involved in 46, XX disorders development in patients with cytochrome P450 oxidoreductase deficiency

2005 - 2006 Clarification of the genetic mechanisms underlying the regulation for the expression of SHOX, a causative gene for short stature and sdyschomndrosteosis

2003 - 2004 Clarification of genetic mechanisms leading to the whole phenotype in Turner syndrome

1997 - 1998 Towards the cloning of the mental retardation gene (s) on the distal Xp

1995 - 1996 Molecular and clinical research of the growth genes on the sex chromosomes

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Papers (353)：

Daisuke Harama, Miori Sato, Limin Yang, Yumiko Miyaji, Nathan Mise, Reiko Suga, Mayumi Tsuji, Masayuki Ochiai, Masako Oda, Maki Fukami, et al. Growth Trajectories and Body Composition in Preschoolers With Allergic Conditions: Findings From the Japan Environment and Children's Study Pilot Cohort. Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology. 2025
Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata. Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review. Reproductive medicine and biology. 2025. 24. 1. e12635
Kazuhisa Akiba, Keiko Matsubara, Atsushi Hattori, Maki Fukami. Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature. Endocrine journal. 2024
Tomoe Ogawa, Hiromune Narusawa, Keisuke Nagasaki, Rika Kosaki, Yasuhiro Naiki, Michihiko Aramaki, Keiko Matsubara, Akie Nakamura, Maki Fukami, Tsutomu Ogata, et al. Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients. The Journal of clinical endocrinology and metabolism. 2024
Atsushi Hattori, Maki Fukami. Precocious Puberty in Boys with NR0B1 Variants. Endocrines. 2024. 5. 4. 529-537

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MISC (293)：

森川葉月, 仁科幸子, 林孝彰, 鳥居薫子, 細野克博, 佐藤美保, 横井匡, 深見真紀, 才津浩智, 東範行, et al. RPGRIP1遺伝子変異によるレーバー先天盲の臨床像. 日本眼科学会雑誌. 2023. 127. 臨増. 232-232
原香織, 松原圭子, 中村明枝, 中村明枝, 佐野伸一朗, 佐野伸一朗, 井上毅信, 川嶋明香, 福家智子, 山澤一樹, et al. Risk assessment of assisted reproductive technology and maternal childbearing age for the development of imprinting disorders. 日本小児内分泌学会学術集会プログラム・抄録集. 2023. 56th
鏡雅代, 原香織, 松原圭子, 中村明枝, 中村明枝, 佐野伸一朗, 佐野伸一朗, 井上毅信, 川嶋明香, 福家智子, et al. インプリンティング疾患発症に対する生殖補助医療および母親の年齢の影響の解明. 日本小児遺伝学会学術集会プログラム・抄録集. 2023. 46th
菊池透, 菊池透, 山本幸代, 山本幸代, 浦上達彦, 浦上達彦, 川村智行, 川村智行, 菊池信行, 菊池信行, et al. 日本の小児思春期1型糖尿病のインスリン治療のリアルワールド~小児インスリン治療研究会第5コホート研究より~. 糖尿病(Web). 2023. 66. Suppl
蘇哲民, 服部淳, 奥山虎之, 小須賀基通, 市本景子, 村山圭, 鏡雅代, 深見真紀, 福原康之. 片親性ダイソミーによりアルギニノコハク酸尿症とSilver-Russell症候群が合併した3歳男児例. 日本先天代謝異常学会雑誌. 2022. 38. 189-189

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Education (2)：

1990 - 1994 慶應義塾大学大学院医学研究科
1984 - 1990 Hamamatsu University School of Medicine

Professional career (1)：

医学博士

Work history (2)：

2021/06 - 現在 National Center for Child Health and Development Deputy Director of Research Institute
2011 - 現在 National Center for Child Health and Development

Committee career (11)：

Endocrine Journal Editor
内閣府総合科学・イノベーション会議専門委員
Cytogenetic Genome Research Associate editor
Clinical Pediatric Endocrinology Vice Editor-in-Chief
Hormone Research in Pediatrics Editorial board member

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

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