Published Papers & Misc - MITSUHASHI Satomi

Division display  21 - 40 of about 114 ／  All the affair displays >>

  1. Nakamura H, Doi H, Mitsuhashi S, Miyatake S, Katoh K, Frith MC, Asano T, Kudo Y, Ikeda T, Kubota S, Kunii M, Kitazawa Y, Tada M, Okamoto M, Joki H, Takeuchi H, Matsumoto N, Tanaka F. Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS. Journal of human genetics. 2020.05; 65 (5): 475-480. ( PubMed, DOI )

  2. Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. American journal of human genetics. 2020.04; 106 (4): 549-558. ( PubMed, DOI )

  3. Sakaguchi S, Nakagawa S, Mitsuhashi S, Ogawa M, Sugiyama K, Tamukai K, Koide R, Katayama Y, Nakano T, Makino S, Imanishi T, Miyazawa T, Mizutani T. Molecular characterization of feline paramyxovirus in Japanese cat populations. Archives of virology. 2020.02; 165 (2): 413-418. ( PubMed, DOI )

  4. Horibata Y, Mitsuhashi S, Shimizu H, Maejima S, Sakamoto H, Aoyama C, Ando H, Sugimoto H. The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts. Scientific reports. 2020.02; 10 (1): 2845. ( PubMed, DOI )

  5. Aoyama C, Horibata Y, Ando H, Mitsuhashi S, Arai M, Sugimoto H. Correction: Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity. The Biochemical journal. 2020.01; 477 (2): 357. ( PubMed, DOI )

  6. Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N. Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. American journal of human genetics. 2020.01; 106 (1): 13-25. ( PubMed, DOI )

  7. Mitsuhashi S, Matsumoto N. Long-read sequencing for rare human genetic diseases. Journal of human genetics. 2020.01; 65 (1): 11-19. ( PubMed, DOI )

  8. Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N. Nonsense variants of <i>STAG2</i> result in distinct congenital anomalies. Human genome variation. 2020; 7 26. ( PubMed, DOI )

  9. Aoyama C, Horibata Y, Ando H, Mitsuhashi S, Arai M, Sugimoto H. Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity. The Biochemical journal. 2019.12; 476 (24): 3721-3736. ( PubMed, DOI )

  10. Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F. GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy. Annals of neurology. 2019.12; 86 (6): 962-968. ( PubMed, DOI )

  11. Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics. 2019.12; 64 (12): 1173-1186. ( PubMed, DOI )

  12. Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Journal of human genetics. 2019.10; 64 (10): 967-978. ( PubMed, DOI )

  13. Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N. Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report. BMC neurology. 2019.10; 19 (1): 253. ( PubMed, DOI )

  14. Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N. Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. Journal of human genetics. 2019.09; 64 (9): 885-890. ( PubMed, DOI )

  15. Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant. Journal of human genetics. 2019.09; 64 (9): 955-960. ( PubMed, DOI )

  16. Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N. A novel de novo frameshift variant in SETD1B causes epilepsy. Journal of human genetics. 2019.08; 64 (8): 821-827. ( PubMed, DOI )

  17. Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nature genetics. 2019.08; 51 (8): 1215-1221. ( PubMed, DOI )

  18. Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. Human molecular genetics. 2019.07; 28 (14): 2319-2329. ( PubMed, DOI )

  19. Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N. Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome. Journal of human genetics. 2019.07; 64 (7): 647-652. ( PubMed, DOI )

  20. Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N. RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genetics in medicine : official journal of the American College of Medical Genetics. 2019.07; 21 (7): 1629-1638. ( PubMed, DOI )

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