Research field (4):
Pathobiochemistry
, Molecular biology
, Metabolism and endocrinology
, Fetal medicine/Pediatrics
Research keywords (7):
Pediatric endocrinology
, human genetics
, MIRAGE症候群
, 次世代シーケンシング
, 分子遺伝学
, 内分泌学
, 小児科学
Research theme for competitive and other funds (12):
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
2021 - 2024 小児・AYA世代におけるMDSの発生機序と治療戦略の解明
2021 - 2024 乳児に発症する炎症性腸疾患と造血不全の原因となる新たな単一遺伝子疾患の確立
2019 - 2023 液-液相分離関連分子SAMD9/SAMD9Lの機能・構造・病態解析
2019 - 2021 Dissecting transcription factors using proximity labeling analyses
2018 - 2021 The pathogenesis of MIRAGE syndrome revealed by model mice using genome editing
2015 - 2018 Methylome Analysis of Thyroid Dysgenesis
2015 - 2018 Model cell-line and model animals of MIRAGE syndrome
2012 - 2015 Functional characterization of a novel TSH receptor mutation (V711fs) with protein instability
2012 - 2014 Can simultaneous mutations in TSHR and DUOX2 cause congenital hypothyroidism?
2011 - 2013 Prevalence, clinical manifestation, and molecular mechanism of congenital hypothyroidism due to DUOX2 abnormality
2009 - 2010 Copy Number Variation as a Cause of Thyroid dysgenesis
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Papers (216):
Satoshi Narumi. Deciphering the mystery of CHNG3. Annals of Pediatric Endocrinology & Metabolism. 2024
Hiromune Narusawa, Tomoe Ogawa, Hideaki Yagasaki, Keisuke Nagasaki, Tatsuki Urakawa, Tomohiro Saito, Shun Soneda, Saori Kinjo, Shinichiro Sano, Mitsukazu Mamada, et al. Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients. The Journal of clinical endocrinology and metabolism. 2024
Takeshi Sato, Satoshi Narumi, Tetsushi Sakuma, Kazuhiro Shimura, Yosuke Ichihashi, Takashi Yamamoto, Tomohiro Ishii, Tomonobu Hasegawa. Establishment of Star-edited Y1 cells as a novel in vitro functional assay for STAR. Journal of Molecular Endocrinology. 2024
Naoko Amano, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa. Response to Letter to the Editor From Janot et al: “Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia”. The Journal of Clinical Endocrinology & Metabolism. 2024
古園美和, 牧村美佳, 都研一, 中尾佳奈子, 鳴海覚志, 萩原秀俊, 關中佳奈子, 關中悠仁, 森谷邦彦, 今井耕輔. Genetic and immunological features of a long-term survivor with MIRAGE syndrome. 日本小児内分泌学会学術集会プログラム・抄録集. 2023. 56th