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Human Genome Variation|November 21, 2023
Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomyYo Niida, Azusa Kobayashi, Sumihito Togi, et al.
Genes|November 25, 2023
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 CFumie Nomura, Akira Shimizu, Sumihito Togi, et al.
Stem Cell Research|July 14, 2022
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)Hiroki Ura, Sumihito Togi, Yumiko Iwata, et al.
Stem Cell Research|March 13, 2022
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)Hiroki Ura, Sumihito Togi, Yumiko Iwata, et al.
Stem Cell Research|June 4, 2023
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) geneHiroki Ura, Sumihito Togi, Mamoru Ozaki, et al.
Stem Cell Research|April 6, 2023
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 geneHiroki Ura, Sumihito Togi, Mamoru Ozaki, et al.
Cureus|January 15, 2024
A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up PoliciesNaoki Okada, Akihiro Shioya, Sumihito Togi, et al.
Food & Nutrition Research|February 17, 2022
Herbal extracts that induce type I interferons through Toll-like receptor 4 signalingMisa Nakasuji-Togi, Sumihito Togi, Keita Saeki, et al.
The Journal of Dermatology|December 2, 2025
A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the TEK GeneSawako Ochiai, Hiroto Ono, Akira Shimizu, et al.
World Journal of Biological Chemistry|December 3, 2015
Signal transducer and activator of transcription 3 regulation by novel binding partnersTadashi Matsuda, Ryuta Muromoto, Yuichi Sekine, et al.
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