Tomoko Uehara

Research field (1)： Medical biochemistry

Research keywords (3)： Pathogenecity , C.elegans , Clinical genetics

Research theme for competitive and other funds (2)：

2020 - 2022 線虫を用いたCNOT2遺伝子の正常神経発生における役割解明
2016 - 2018 CDC42遺伝子異常症の病態解明

Papers (88)：

Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A. 2024. e63614
Mamiko Yamada, Yohei Nitta, Tomoko Uehara, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Masaru Tamura, Shinya Ayabe, Atsushi Yoshiki, Akiteru Maeno, et al. Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences. European Journal of Medical Genetics. 2023. 104804-104804
Yuji Yoshikawa, Takashi Koto, Tomoka Ishida, Tomoko Uehara, Mamiko Yamada, Kenjiro Kosaki, Makoto Inoue. Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers-Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase. Journal of clinical medicine. 2023. 12. 5
Yohei Nitta, Hiroki Kawai, Ryuto Maki, Jiro Osaka, Satoko Hakeda-Suzuki, Yoshitaka Nagai, Karolína Doubková, Tomoko Uehara, Kenji Watanabe, Kenjiro Kosaki, et al. Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in drosophila using the automated axon quantification system, MeDUsA. Human molecular genetics. 2023. 32. 9. 1524-1538
Yumi Tsuchida, Yasuo Nagafuchi, Tomoko Uehara, Hisato Suzuki, Mamiko Yamada, Masanori Kono, Hiroaki Hatano, Hirofumi Shoda, Keishi Fujio, Kenjiro Kosaki. Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report. Medicine. 2022. 101. 7. e28828

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MISC (113)：

上原朋子, 鈴木寿人, 小崎健次郎. 【IRUD-Beyond:小型モデル生物および患者iPS細胞を用いた希少・未診断疾患へのアプローチ】IRUD解析拠点から見たJ-RDMM. 遺伝子医学. 2022. 12. 2. 60-65
増田奈保子, 青天目信, 平野翔堂, 北井征宏, 荒井洋, 武内俊樹, 上原朋子, 鈴木寿人, 小崎健次郎, 岡本伸彦, et al. 知的障害・低緊張と常同運動を認めたGNB1遺伝子病的バリアントを認めた1例. 日本小児科学会雑誌. 2022. 126. 2. 334-334
稲葉美枝, 長倉正宗, 上原朋子, 小崎健次郎, 水野誠司. 頭蓋骨早期癒合症と成長障害を伴う多発奇形先天異常症候群にCDC45複合ヘテロ接合性変異を同定したMeier-Gorlin症候群の1男児例. 日本小児科学会雑誌. 2022. 126. 2. 374-374
井口智洋, 粟津緑, 濱田陸, 幡谷浩史, 上原朋子, 小崎健次郎, 本田雅敬. 尿所見異常が乏しい中で腎機能が増悪し多嚢胞性形成腎と常染色体優性尿細管間質性腎疾患の合併が疑われたHNF1B関連腎疾患の一例. 日本小児腎臓病学会雑誌. 2021. 34. 1Suppl. 176-176
鈴木寿人, 山田茉未子, 上原朋子, 武内俊樹, 小崎健次郎. エクソーム解析未解決の患者に対する全ゲノム解析とRNA-seqによる外れ値解析手法. 日本小児科学会雑誌. 2021. 125. 2. 292-292

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Association Membership(s) (5)：

JAPANESE SOCIETY OF NEPHROLOGY , THE JAPANESE SOCIETY FOR PEDIATRIC NEPHROLOGY , 日本小児遺伝学会 , JAPAN PEDIATRIC SOCIETY , THE JAPAN SOCIETY OF HUMAN GENETICS

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