يعرض 1 - 20 نتائج من 101 نتيجة بحث عن '"Sumihito Togi"', وقت الاستعلام: 0.55s تنقيح النتائج
  1. 1
    Academic Journal
    Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab

    المؤلفون: Eri Uchiyama, Kiminobu Takeda, Hiroto Ono, Akira Shimizu, Sumihito Togi, Hiroki Ura, Yo Niida

    المصدر: Journal of Cutaneous Immunology and Allergy, Vol 8 (2025)

    مصطلحات موضوعية: hypohidrotic ectodermal dysplasia (HED), EDA gene, atopic dermatitis, dupilumab, genetic analysis, Dermatology, RL1-803, Immunologic diseases. Allergy, RC581-607

    وصف الملف: electronic resource

    Relation: https://www.frontierspartnerships.org/articles/10.3389/jcia.2025.13813/full; https://doaj.org/toc/2574-4593

    URL الوصول: https://doaj.org/article/27a83e216b8947fbbfa4c946bc914a48

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  2. 2
    Academic Journal
    Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

    المؤلفون: Yo Niida, Wataru Fujita, Sumihito Togi, Hiroki Ura

    المصدر: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)

    مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2054-345X

    URL الوصول: https://doaj.org/article/83c83de095d54daea45e2d44db4e48bd

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  3. 3
    Academic Journal
    STAP-2 facilitates insulin signaling through binding to CAP/c-Cbl and regulates adipocyte differentiation

    المؤلفون: Yuichi Sekine, Kazuna Kikkawa, Sachie Honda, Yuto Sasaki, Shoya Kawahara, Akihiro Mizushima, Sumihito Togi, Masahiro Fujimuro, Kenji Oritani, Tadashi Matsuda

    المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2045-2322

    URL الوصول: https://doaj.org/article/7bf27e00d121436392bc0ef217fb1824

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  4. 4
    Academic Journal
    Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

    المؤلفون: Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 77, Iss , Pp 103388- (2024)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506124000862; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/ea5c0e8f9f1d419aacaedaa73abcc640

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  5. 5
    Academic Journal
    Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

    المؤلفون: Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki Ura

    المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)

    مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2054-345X

    URL الوصول: https://doaj.org/article/c93fc35efc6d458096f1945ed6e1da83

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  6. 6
    Academic Journal
    Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

    المؤلفون: Hiroki Ura, Sumihito Togi, Yo Niida

    المصدر: Frontiers in Genetics, Vol 14 (2023)

    مصطلحات موضوعية: RNA sequencing, next-generation sequencing, long-read sequencing, alternative splicing analysis, tuberous sclerosis complex, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1256064/full; https://doaj.org/toc/1664-8021

    URL الوصول: https://doaj.org/article/47a35d9f3df74a6e84f2446463bd4eff

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  7. 7
    Academic Journal
    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

    المؤلفون: Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 70, Iss , Pp 103129- (2023)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506123001150; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/c17916ad38b74f9e98607bd49711852e

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  8. 8
    Academic Journal
    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

    المؤلفون: Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 69, Iss , Pp 103075- (2023)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506123000612; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/a5ae7fe31e114c1c8018603ff0caff8d

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  9. 9
    Academic Journal
    Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events

    المؤلفون: Hiroki Ura, Sumihito Togi, Yo Niida

    المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2045-2322

    URL الوصول: https://doaj.org/article/afbebcc1ab8d4544a109619a7c85ebdc

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  10. 10
    Academic Journal
    A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis

    المؤلفون: Hiroki Ura, Sumihito Togi, Yo Niida

    المصدر: BMC Genomics, Vol 23, Iss 1, Pp 1-10 (2022)

    مصطلحات موضوعية: Transcriptome, RNA-Seq, Gene expression, Alternative splicing, Biotechnology, TP248.13-248.65, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1471-2164

    URL الوصول: https://doaj.org/article/ad1e5b71b7984e378ded64f272f4156c

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  11. 11
    Academic Journal
    Herbal extracts that induce type I interferons through Toll-like receptor 4 signaling

    المؤلفون: Misa Nakasuji-Togi, Sumihito Togi, Keita Saeki, Yasuhiko Kojima, Keiko Ozato

    المصدر: Food & Nutrition Research, Vol 66, Pp 1-10 (2022)

    مصطلحات موضوعية: herbal medicine, interferon, pathogen resistance, macrophages, toll-like receptors, Nutrition. Foods and food supply, TX341-641

    وصف الملف: electronic resource

    Relation: https://foodandnutritionresearch.net/index.php/fnr/article/view/5524/14299; https://doaj.org/toc/1654-661X

    URL الوصول: https://doaj.org/article/24f249e327684d04a429a4252cb5a83e

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  12. 12
    Academic Journal
    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

    المؤلفون: Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 64, Iss , Pp 102885- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122002343; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/033c093639614bbdb3e4d51a46343fc2

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  13. 13
    Academic Journal
    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

    المؤلفون: Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 64, Iss , Pp 102926- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122002756; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/f303ce2c716a42fa93f5aee73910259a

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  14. 14
    Academic Journal
    Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study

    المؤلفون: Sumihito Togi, Hiroki Ura, Yo Niida

    المصدر: Current Issues in Molecular Biology, Vol 43, Iss 2, Pp 782-801 (2021)

    مصطلحات موضوعية: neurofibromatosis type 1, genetic testing, next-generation sequencing, long-range PCR, multiplex PCR, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/1467-3045/43/2/57; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

    URL الوصول: https://doaj.org/article/136bb1f5d55a4a2993e40bb9c14b8f2b

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  15. 15
    Academic Journal
    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)

    المؤلفون: Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida

    المصدر: Stem Cell Research, Vol 63, Iss , Pp 102867- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122002161; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/e25c28f5340140d096b2d05311f52af8

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  16. 16
    Academic Journal
    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)

    المؤلفون: Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida

    المصدر: Stem Cell Research, Vol 63, Iss , Pp 102860- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122002094; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/974bd9312fac41ecbc078a65e3d19fc4

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  17. 17
    Academic Journal
    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)

    المؤلفون: Hiroki Ura, Sumihito Togi, Yumiko Iwata, Mamoru Ozaki, Yo Niida

    المصدر: Stem Cell Research, Vol 61, Iss , Pp 102743- (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506122000927; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/871f58f9627d465e962839bbbff104ae

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  18. 18
    Academic Journal
    Implication of NF-κB Activation on Ozone-Induced HO-1 Activation

    المؤلفون: Jun-ichi Kashiwakura, Misa Togi, Ryuta Muromoto, Satoshi Nagashima, Sumihito Togi, Tadashi Matsuda, Toshiaki Miura, Yuichi Kitai

    المصدر: BPB Reports. 2021, 4(2):59

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  19. 19
    Academic Journal
    Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

    المؤلفون: Hiroki Ura, Sumihito Togi, Yo Niida

    المصدر: Biology, Vol 10, Iss 4, p 256 (2021)

    مصطلحات موضوعية: phase analysis, compound heterozygous mutation, next-generation sequencing, targeted double-stranded cDNA sequencing, allelic expression, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2079-7737/10/4/256; https://doaj.org/toc/2079-7737

    URL الوصول: https://doaj.org/article/1fa578df6d5444048f8c12bfbc8e32d3

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  20. 20
    Academic Journal
    Silencing Mediator of Retinoic Acid and Thyroid Hormone Receptor Regulates Enhanced Activation of Signal Transducer and Activator of Transcription 3 by Epstein–Barr Virus-Derived Epstein–Barr Nuclear Antigen 2

    المؤلفون: Asuka Nanbo, Masahiro Fujimuro, Osamu Ikeda, Ryuta Muromoto, Shinya Kamitani, Sumihito Togi, Tadashi Matsuda, Yuichi Sekine

    المصدر: Biological and Pharmaceutical Bulletin. 2009, 32(7):1283

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