Published Papers & Misc - MIYA Fuyuki

Division display  1 - 20 of about 56 ／  All the affair displays >>

  1. Hosoe J, Miya F, Kadowaki H, Fujiwara T, Suzuki K, Kato T, Waki H, Sasako T, Aizu K, Yamamura N, Sasaki F, Kurano M, Hara K, Tanaka M, Ishiura H, Tsuji S, Honda K, Yoshimura J, Morishita S, Matsuzawa F, Aikawa SI, Boroevich KA, Nangaku M, Okada Y, Tsunoda T, Shojima N, Yamauchi T, Kadowaki T. Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance. Diabetes research and clinical practice. 2020.11; 169 108461. ( PubMed, DOI )

  2. Kato Kohji, Miya Fuyuki, Oka Yasuyoshi, Mizuno Seiji, Saitoh Shinji. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders JOURNAL OF HUMAN GENETICS. 2020.10; ( PubMed, DOI )

  3. Nishino Jo, Watanabe Shuichi, Miya Fuyuki, Kamatani Takashi, Sugawara Toshitaka, Boroevich Keith A., Tsunoda Tatsuhiko. Quantification of multicellular colonization in tumor metastasis using exome-sequencing data INTERNATIONAL JOURNAL OF CANCER. 2020.05; 146 (9): 2488-2497. ( PubMed, DOI )

  4. Mutai Hideki, Wasano Koichiro, Momozawa Yukihide, Kamatani Yoichiro, Miya Fuyuki, Masuda Sawako, Morimoto Noriko, Nara Kiyomitsu, Takahashi Satoe, Tsunoda Tatsuhiko, Homma Kazuaki, Kubo Michiaki, Matsunaga Tatsuo. Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans PLOS GENETICS. 2020.04; 16 (4): e1008643. ( PubMed, DOI )

  5. Onodera Kazunari, Shimojo Daisuke, Ishihara Yasuharu, Yano Masato, Miya Fuyuki, Banno Haruhiko, Kuzumaki Naoko, Ito Takuji, Okada Rina, de Araujo Herculano Bruno, Ohyama Manabu, Yoshida Mari, Tsunoda Tatsuhiko, Katsuno Masahisa, Doyu Manabu, Sobue Gen, Okano Hideyuki, Okada Yohei. Unveiling synapse pathology in spinal bulbar muscular atrophy by genome-wide transcriptome analysis of purified motor neurons derived from disease specific iPSCs MOLECULAR BRAIN. 2020.02; 13 (1): 18. ( PubMed, DOI )

  6. Sato Taimu, Nishiguchi Koji M., Fujita Kosuke, Miya Fuyuki, Inoue Takashi, Sasaki Erika, Asano Toshifumi, Tsuda Satoru, Shiga Yukihiro, Kunikata Hiroshi, Nakazawa Mitsuru, Nakazawa Toru. Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer ACTA OPHTHALMOLOGICA. 2020.02; ( PubMed, DOI )

  7. Nishiguchi Koji M., Fujita Kosuke, Miya Fuyuki, Katayama Shota, Nakazawa Toru. Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice NATURE COMMUNICATIONS. 2020.01; 11 (1): 482. ( PubMed, DOI )

  8. Sato Yasuyoshi, Wada Ikuo, Odaira Kosuke, Hosoi Akihiro, Kobayashi Yukari, Nagaoka Koji, Karasaki Takahiro, Matsushita Hirokazu, Yagi Koichi, Yamashita Hiroharu, Fujita Masashi, Watanabe Shuichi, Kamatani Takashi, Miya Fuyuki, Mineno Junichi, Nakagawa Hidewaki, Tsunoda Tatsuhiko, Takahashi Shunji, Seto Yasuyuki, Kakimi Kazuhiro. Integrative immunogenomic analysis of gastric cancer dictates novel immunological classification and the functional status of tumor-infiltrating cells CLINICAL & TRANSLATIONAL IMMUNOLOGY. 2020; 9 (10): e1194. ( PubMed, DOI )

  9. Nikopoulos Konstantinos, Cisarova Katarina, Quinodoz Mathieu, Koskiniemi-Kuendig Hanna, Miyake Noriko, Farinelli Pietro, Rehman Atta Ur, Khan Muhammad Imran, Prunotto Andrea, Akiyama Masato, Kamatani Yoichiro, Terao Chikashi, Miya Fuyuki, Ikeda Yasuhiro, Ueno Shinji, Fuse Nobuo, Murakami Akira, Wada Yuko, Terasaki Hiroko, Sonoda Koh-Hei, Ishibashi Tatsuro, Kubo Michiaki, Cremers Frans P. M., Kutalik Zoltan, Matsumoto Naomichi, Nishiguchi Koji M., Nakazawa Toru, Rivolta Carlo. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy NATURE COMMUNICATIONS. 2019.06; 10 (1): 2884. ( PubMed, DOI )

  10. Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S. <i>MYCN</i> de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. Journal of medical genetics. 2018.12; ( PubMed, DOI )

  11. Akiyama M, Takahashi A, Momozawa Y, Arakawa S, Miya F, Tsunoda T, Ashikawa K, Oshima Y, Yasuda M, Yoshida S, Enaida H, Tan X, Yanagi Y, Yasukawa T, Ogura Y, Nagai Y, Takahashi K, Fujisawa K, Inoue M, Arakawa A, Tanaka K, Yuzawa M, Kadonosono K, Sonoda KH, Ishibashi T, Kubo M. Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration. Journal of human genetics. 2018.10; 63 (10): 1083-1091. ( PubMed, DOI )

  12. Mutai Hideki, Miya Fuyuki, Shibata Hiroaki, Yasutomi Yasuhiro, Tsunoda Tatsuhiko, Matsunaga Tatsuo. Gene expression dataset for whole cochlea of Macaca fascicularis SCIENTIFIC REPORTS. 2018.10; 8 (1): 15554. ( PubMed, DOI )

  13. Hori I*, Miya F* (*equal contribution), Negishi Y, Hattori A, Ando N, Boroevich KA, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome JOURNAL OF HUMAN GENETICS. 2018.09; 63 (9): 957-963. ( PubMed, DOI )

  14. Suzuki N, Mutai H, Miya F, Tsunoda T, Terashima H, Morimoto N, Matsunaga T. A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX 10 BMC PEDIATRICS. 2018.05; 18 (1): 171. ( PubMed, DOI )

  15. Shigemizu D*, Miya F* (*equal contribution), Akiyama S, Okuda S, Boroevich KA, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Matsunaga T, Mutai H, Kosaki K, Tsunoda T. IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis SCIENTIFIC REPORTS. 2018.04; 8 (1): 5608. ( PubMed, DOI )

  16. Tamai K, Tada K, Takeuchi A, Nakamura M, Marunaka H, Washio Y, Tanaka H, Miya F, Okamoto N, Kageyama M. Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2018.03; 176 (3): 682-686. ( PubMed, DOI )

  17. Ikeda Y, Nishiguchi KM, Miya F, Shimozawa N, Funatsu J, Nakatake S, Fujiwara K, Tachibana T, Murakami Y, Hisatomi T, Yoshida S, Yasutomi Y, Tsunoda T, Nakazawa T, Ishibashi T, Sonoda K. Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2018.02; 59 (2): 826-830. ( PubMed, DOI )

  18. Okamoto N, Miya F, Hatuskawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.. Siblings with Optic Neuropathy and RTN4IP1 Mutation. J. Hum. Genet.. 2017.10; (62): 927-929.

  19. Okamoto Nobuhiko, Tsuchiya Yuki, Miya Fuyuki, Tsunoda Tatsuhiko, Yamashita Kumiko, Boroevich Keith A., Kato Mitsuhiro, Saitoh Shinji, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Kitagawa Daiju. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017.10; 173 (10): 2690-2696. ( PubMed, DOI )

  20. Hosoe Jun, Kadowaki Hiroko, Miya Fuyuki, Aizu Katsuya, Kawamura Tomoyuki, Miyata Ichiro, Satomura Kenichi, Ito Takeru, Hara Kazuo, Tanaka Masaki, Ishiura Hiroyuki, Tsuji Shoji, Suzuki Ken, Takakura Minaka, Boroevich Keith A., Tsunoda Tatsuhiko, Yamauchi Toshimasa, Shojima Nobuhiro, Kadowaki Takashi. Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance DIABETES. 2017.10; 66 (10): 2713-2723. ( PubMed, DOI )

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