Published Papers & Misc - MIYA Fuyuki

Division display  21 - 40 of about 56 ／  All the affair displays >>

  1. Kato K*, Miya F* (*equal contribution), Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate JOURNAL OF HUMAN GENETICS. 2017.09; 62 (9): 861-863. ( PubMed, DOI )

  2. Ishigaki Kazuyoshi, Kochi Yuta, Suzuki Akari, Tsuchida Yumi, Tsuchiya Haruka, Sumitomo Shuji, Yamaguchi Kensuke, Nagafuchi Yasuo, Nakachi Shinichiro, Kato Rika, Sakurai Keiichi, Shoda Hirofumi, Ikari Katsunori, Taniguchi Atsuo, Yamanaka Hisashi, Miya Fuyuki, Tsunoda Tatsuhiko, Okada Yukinori, Momozawa Yukihide, Kamatani Yoichiro, Yamada Ryo, Kubo Michiaki, Fujio Keishi, Yamamoto Kazuhiko. Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis NATURE GENETICS. 2017.07; 49 (7): 1120-+. ( PubMed, DOI )

  3. Shigemizu Daichi, Iwase Takuji, Yoshimoto Masataka, Suzuki Yasuyo, Miya Fuyuki, Boroevich Keith A., Katagiri Toyomasa, Zembutsu Hitoshi, Tsunoda Tatsuhiko. The prediction models for postoperative overall survival and disease-free survival in patients with breast cancer CANCER MEDICINE. 2017.07; 6 (7): 1627-1638. ( PubMed, DOI )

  4. Hori Ikumi, Otomo Takanobu, Nakashima Mitsuko, Miya Fuyuki, Negishi Yutaka, Shiraishi Hideaki, Nonoda Yutaka, Magara Shinichi, Tohyama Jun, Okamoto Nobuhiko, Kumagai Takeshi, Shimoda Konomi, Yukitake Yoshiya, Kajikawa Daigo, Morio Tomohiro, Hattori Ayako, Nakagawa Motoo, Ando Naoki, Nishino Ichizo, Kato Mitsuhiro, Tsunoda Tatsuhiko, Saitsu Hirotomo, Kanemura Yonehiro, Yamasaki Mami, Kosaki Kenjiro, Matsumoto Naomichi, Yoshimori Tamotsu, Saitoh Shinji. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement SCIENTIFIC REPORTS. 2017.06; 7 (1): 3552. ( PubMed, DOI )

  5. Okamoto Nobuhiko, Miya Fuyuki, Tsunoda Tatsuhiko, Kato Mitsuhiro, Saitoh Shinji, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro. Novel MCA/ID syndrome with ASH1L mutation AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017.06; 173 (6): 1644-1648. ( PubMed, DOI )

  6. Kawamura Shunsuke, Onai Nobuyuki, Miya Fuyuki, Sato Taku, Tsunoda Tatsuhiko, Kurabayashi Kazutaka, Yotsumoto Satoshi, Kuroda Shoko, Takenaka Katsuto, Akashi Koichi, Ohteki Toshiaki. Identification of a Human Clonogenic Progenitor with Strict Monocyte Differentiation Potential: A Counterpart of Mouse cMoPs IMMUNITY. 2017.05; 46 (5): 835-+. ( PubMed, DOI )

  7. Negishi Yutaka, Miya Fuyuki, Hattori Ayako, Johmura Yoshikazu, Nakagawa Motoo, Ando Naoki, Hori Ikumi, Togawa Takao, Aoyama Kohei, Ohashi Kei, Fukumura Shinobu, Mizuno Seiji, Umemura Ayako, Kishimoto Yoko, Okamoto Nobuhiko, Kato Mitsuhiro, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Nakanishi Makoto, Saitoh Shinji. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly BMC MEDICAL GENETICS. 2017.01; 18 (1): 4. ( PubMed, DOI )

  8. Hamada Nanako, Negishi Yutaka, Mizuno Makoto, Miya Fuyuki, Hattori Ayako, Okamoto Nobuhiko, Kato Mitsuhiro, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Tabata Hidenori, Saitoh Shinji, Nagata Koh-ichi. Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability JOURNAL OF NEUROCHEMISTRY. 2017.01; 140 (1): 82-95. ( PubMed, DOI )

  9. Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H.. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur. J. Hum. Genet.. 2016.12; (24): 1702-1706.

  10. Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M, Fujii T. . ALDH18A1-related cutis laxa syndrome with cyclic vomiting. Brain Dev.. 2016.08; (38): 678-684.

  11. Hori I*, Miya F*, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.. Novel Splicing Mutation in the ASXL3 gene causing Bainbridge-Ropers Syndrome. Am. J. Med. Genet.. 2016.07; (A 170): 1863-1867.

  12. Nakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Kosaki K, Yoshinaga H.. Late-onset epileptic spasms in a female patient with a CASK mutation. Brain Dev.. 2015.10; (37): 919-923.

  13. Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Natsume J. . TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Sci. Rep. . 2015.10; (5): 15165.

  14. Imai Y, Morita H, Takeda N, Miya F, Hyodo H, Fujita D, Tajima T, Tsunoda T, Nagai R, Kubo M, Komuro I.. A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees. Int. J. Cardiol.. 2015.09; (195): 290-292.

  15. Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K.. Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. Clin. Genet.. 2015.09; (88): 288-292.

  16. Miya F, Mutai H, Fujii M, Boroevich KA, Matsunaga T, Tsunoda T.. Gene expression profiling of DBA/2J mice cochleae treated with L-methionine and valproic acid. Genomics Data.. 2015.07; (5): 323-325.

  17. Shigemizu D, Aiba T, Nakagawa H, Ozaki K, Miya F, Satake W, Toda T, Miyamoto Y, Fujimoto A, Suzuki Y, Kubo M, Tsunoda T, Shimizu W, Tanaka T.. Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS ONE. 2015.07; (10): e0130329.

  18. Hirokawa M, Morita H, Tajima T, Takahashi A, Ashikawa K, Miya F, Shigemizu D, Ozaki K, Sakata Y, Nakatani D, Suna S, Imai Y, Tanaka T, Tsunoda T, Matsuda K, Kadowaki T, Nakamura Y, Nagai R, Komuro I, Kubo M.. A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. Eur. J. Hum. Genet.. 2015.05; (23): 374-380.

  19. Nakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M.. Primary Microcephaly with Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM. Prediatr. Neurol.. 2015.05; (52): e7-e8.

  20. Mutai H, Miya F, Fujii M, Tsunoda T, Matsunaga T.. Attenuation of Progressive Hearing Loss in DBA/2J Mice by Reagents that Affect Epigenetic Modifications Is Associated with Up-Regulation of the Zinc Importer Zip4. PLoS ONE.. 2015.04; (10): e0124301.

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