Funayama R - Search Results

1

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Among authors: funayama r. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19. Genet Med. 2019. PMID: 30451973 Free article.

2

Re-investigation and RNA sequencing-based identification of genes with placenta-specific imprinted expression.

Okae H, Hiura H, Nishida Y, Funayama R, Tanaka S, Chiba H, Yaegashi N, Nakayama K, Sasaki H, Arima T. Okae H, et al. Among authors: funayama r. Hum Mol Genet. 2012 Feb 1;21(3):548-58. doi: 10.1093/hmg/ddr488. Epub 2011 Oct 24. Hum Mol Genet. 2012. PMID: 22025075

3

Use of illumina deep sequencing technology to differentiate hepatitis C virus variants.

Ninomiya M, Ueno Y, Funayama R, Nagashima T, Nishida Y, Kondo Y, Inoue J, Kakazu E, Kimura O, Nakayama K, Shimosegawa T. Ninomiya M, et al. Among authors: funayama r. J Clin Microbiol. 2012 Mar;50(3):857-66. doi: 10.1128/JCM.05715-11. Epub 2012 Jan 11. J Clin Microbiol. 2012. PMID: 22205816 Free PMC article.

4

Nrf2-MafG heterodimers contribute globally to antioxidant and metabolic networks.

Hirotsu Y, Katsuoka F, Funayama R, Nagashima T, Nishida Y, Nakayama K, Engel JD, Yamamoto M. Hirotsu Y, et al. Among authors: funayama r. Nucleic Acids Res. 2012 Nov 1;40(20):10228-39. doi: 10.1093/nar/gks827. Epub 2012 Sep 10. Nucleic Acids Res. 2012. PMID: 22965115 Free PMC article.

5

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y. Izumi R, et al. Among authors: funayama r. J Hum Genet. 2013 May;58(5):259-66. doi: 10.1038/jhg.2013.9. Epub 2013 Feb 28. J Hum Genet. 2013. PMID: 23446887

6

Distinct microRNAs expression profile in primary biliary cirrhosis and evaluation of miR 505-3p and miR197-3p as novel biomarkers.

Ninomiya M, Kondo Y, Funayama R, Nagashima T, Kogure T, Kakazu E, Kimura O, Ueno Y, Nakayama K, Shimosegawa T. Ninomiya M, et al. Among authors: funayama r. PLoS One. 2013 Jun 12;8(6):e66086. doi: 10.1371/journal.pone.0066086. Print 2013. PLoS One. 2013. PMID: 23776611 Free PMC article.

7

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Aoki Y, et al. Among authors: funayama r. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20. Am J Hum Genet. 2013. PMID: 23791108 Free PMC article.

8

Ras-induced changes in H3K27me3 occur after those in transcriptional activity.

Hosogane M, Funayama R, Nishida Y, Nagashima T, Nakayama K. Hosogane M, et al. Among authors: funayama r. PLoS Genet. 2013 Aug;9(8):e1003698. doi: 10.1371/journal.pgen.1003698. Epub 2013 Aug 29. PLoS Genet. 2013. PMID: 24009517 Free PMC article.

9

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashima S, Kato F, Fukami M, Aoki Y, Matsubara Y. Ogata T, et al. Among authors: funayama r. PLoS One. 2014 Mar 17;9(3):e91598. doi: 10.1371/journal.pone.0091598. eCollection 2014. PLoS One. 2014. PMID: 24637876 Free PMC article.

10

HCV infection enhances Th17 commitment, which could affect the pathogenesis of autoimmune diseases.

Kondo Y, Ninomiya M, Kimura O, Machida K, Funayama R, Nagashima T, Kobayashi K, Kakazu E, Kato T, Nakayama K, Lai MM, Shimosegawa T. Kondo Y, et al. Among authors: funayama r. PLoS One. 2014 Jun 6;9(6):e98521. doi: 10.1371/journal.pone.0098521. eCollection 2014. PLoS One. 2014. PMID: 24905921 Free PMC article.

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