Miya F - Search Results

1

Hepatitis C virus infection suppresses the interferon response in the liver of the human hepatocyte chimeric mouse.

Tsuge M, Fujimoto Y, Hiraga N, Zhang Y, Ohnishi M, Kohno T, Abe H, Miki D, Imamura M, Takahashi S, Ochi H, Hayes CN, Miya F, Tsunoda T, Chayama K. Tsuge M, et al. Among authors: miya f. PLoS One. 2011;6(8):e23856. doi: 10.1371/journal.pone.0023856. Epub 2011 Aug 23. PLoS One. 2011. PMID: 21886832 Free PMC article.

2

Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.

Yoshihama K, Mutai H, Sekimizu M, Ito F, Saito S, Nakamura S, Mikoshiba T, Nagai R, Takebayashi A, Miya F, Kosaki K, Ozawa H, Matsunaga T. Yoshihama K, et al. Among authors: miya f. Clin Genet. 2023 Apr;103(4):466-471. doi: 10.1111/cge.14294. Epub 2023 Jan 14. Clin Genet. 2023. PMID: 36597280

3

Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.

Yamada M, Suzuki H, Miya F, Kosugiyama K, Ujiie T, Tonoki H, Kosaki K. Yamada M, et al. Among authors: miya f. Congenit Anom (Kyoto). 2023 Jul;63(4):121-124. doi: 10.1111/cga.12514. Epub 2023 Mar 28. Congenit Anom (Kyoto). 2023. PMID: 36946065

4

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.

Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: miya f. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308

5

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.

Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K. Yamada M, et al. Among authors: miya f. Eur J Med Genet. 2023 Feb;66(2):104690. doi: 10.1016/j.ejmg.2022.104690. Epub 2022 Dec 30. Eur J Med Genet. 2023. PMID: 36587803 Free article.

6

Japanese Public Health Insurance System's new genomic strategic action to shorten the "diagnostic odyssey" for patients with rare and intractable diseases.

Ezaki J, Takahashi Y, Saijo H, Miya F, Kosaki K. Ezaki J, et al. Among authors: miya f. J Hum Genet. 2024 Nov;69(11):549-552. doi: 10.1038/s10038-024-01285-y. Epub 2024 Aug 15. J Hum Genet. 2024. PMID: 39147823

7

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.

Yamada M, Mizuno S, Inaba M, Uehara T, Inagaki H, Suzuki H, Miya F, Takenouchi T, Kurahashi H, Kosaki K. Yamada M, et al. Among authors: miya f. Am J Med Genet A. 2024 Aug;194(8):e63614. doi: 10.1002/ajmg.a.63614. Epub 2024 Apr 2. Am J Med Genet A. 2024. PMID: 38562108

8

Recombination rates of genes expressed in human tissues.

Kato M, Miya F, Kanemura Y, Tanaka T, Nakamura Y, Tsunoda T. Kato M, et al. Among authors: miya f. Hum Mol Genet. 2008 Feb 15;17(4):577-86. doi: 10.1093/hmg/ddm332. Epub 2007 Nov 13. Hum Mol Genet. 2008. PMID: 18000027

9

Growth hormone-dependent pathogenesis of human hepatic steatosis in a novel mouse model bearing a human hepatocyte-repopulated liver.

Tateno C, Kataoka M, Utoh R, Tachibana A, Itamoto T, Asahara T, Miya F, Tsunoda T, Yoshizato K. Tateno C, et al. Among authors: miya f. Endocrinology. 2011 Apr;152(4):1479-91. doi: 10.1210/en.2010-0953. Epub 2011 Feb 8. Endocrinology. 2011. PMID: 21303949

10

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators.

Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, Arai Y, Takahashi H, Shirakihara T, Nagasaki M, Shibuya T, Nakano K, Watanabe-Makino K, Tanaka H, Nakamura H, Kusuda J, Ojima H, Shimada K, Okusaka T, Ueno M, Shigekawa Y, Kawakami Y, Arihiro K, Ohdan H, Gotoh K, Ishikawa O, Ariizumi S, Yamamoto M, Yamada T, Chayama K, Kosuge T, Yamaue H, Kamatani N, Miyano S, Nakagama H, Nakamura Y, Tsunoda T, Shibata T, Nakagawa H. Fujimoto A, et al. Among authors: miya f. Nat Genet. 2012 May 27;44(7):760-4. doi: 10.1038/ng.2291. Nat Genet. 2012. PMID: 22634756

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