Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex
Togi, Sumihito, Ura, Hiroki, Hatanaka, Hisayo, Niida, Yo
Published in International journal of molecular sciences (22.09.2022)
Published in International journal of molecular sciences (22.09.2022)
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Journal Article
Optimization and Validation of Multimodular, Long-Range PCR–Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex
Togi, Sumihito, Ura, Hiroki, Niida, Yo
Published in The Journal of molecular diagnostics : JMD (01.04.2021)
Published in The Journal of molecular diagnostics : JMD (01.04.2021)
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Journal Article
Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)
Ura, Hiroki, Togi, Sumihito, Hatanaka, Hisayo, Niida, Yo
Published in Stem cell research (01.08.2022)
Published in Stem cell research (01.08.2022)
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Journal Article
Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene
Ura, Hiroki, Togi, Sumihito, Hatanaka, Hisayo, Niida, Yo
Published in Stem cell research (01.10.2022)
Published in Stem cell research (01.10.2022)
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Journal Article
Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene
Ura, Hiroki, Togi, Sumihito, Hatanaka, Hisayo, Niida, Yo
Published in Stem cell research (01.10.2022)
Published in Stem cell research (01.10.2022)
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Journal Article
Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene
Ura, Hiroki, Togi, Sumihito, Ozaki, Mamoru, Hatanaka, Hisayo, Niida, Yo
Published in Stem cell research (01.08.2023)
Published in Stem cell research (01.08.2023)
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Journal Article
STAP-2 facilitates insulin signaling through binding to CAP/c-Cbl and regulates adipocyte differentiation
Sekine, Yuichi, Kikkawa, Kazuna, Honda, Sachie, Sasaki, Yuto, Kawahara, Shoya, Mizushima, Akihiro, Togi, Sumihito, Fujimuro, Masahiro, Oritani, Kenji, Matsuda, Tadashi
Published in Scientific reports (09.03.2024)
Published in Scientific reports (09.03.2024)
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Journal Article
Tyk2 is a therapeutic target for psoriasis-like skin inflammation
Ishizaki, Masayuki, Muromoto, Ryuta, Akimoto, Toshihiko, Sekine, Yuichi, Kon, Shigeyuki, Diwan, Manish, Maeda, Hiroaki, Togi, Sumihito, Shimoda, Kazuya, Oritani, Kenji, Matsuda, Tadashi
Published in International immunology (01.05.2014)
Published in International immunology (01.05.2014)
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Journal Article
Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene
Ura, Hiroki, Togi, Sumihito, Ozaki, Mamoru, Hatanaka, Hisayo, Niida, Yo
Published in Stem cell research (01.06.2023)
Published in Stem cell research (01.06.2023)
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Journal Article
Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency
Niida, Yo, Fujita, Wataru, Togi, Sumihito, Ura, Hiroki
Published in Human genome variation (26.07.2024)
Published in Human genome variation (26.07.2024)
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Journal Article
SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C
Nomura, Fumie, Shimizu, Akira, Togi, Sumihito, Ura, Hiroki, Niida, Yo
Published in Genes (01.11.2023)
Published in Genes (01.11.2023)
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Journal Article
Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)
Ura, Hiroki, Togi, Sumihito, Iwata, Yumiko, Ozaki, Mamoru, Niida, Yo
Published in Stem cell research (01.05.2022)
Published in Stem cell research (01.05.2022)
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Journal Article
Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)
Ura, Hiroki, Togi, Sumihito, Iwata, Yumiko, Ozaki, Mamoru, Niida, Yo
Published in Stem cell research (01.08.2022)
Published in Stem cell research (01.08.2022)
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Journal Article