Sasaki H - Search Results

1

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H. Thijssen PE, et al. Among authors: sasaki h. Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870. Nat Commun. 2015. PMID: 26216346 Free PMC article.

2

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, Suetake I, Tajima S, Wakui K, Miki Y, Hayashi M, Fukushima Y, Sasaki H. Shirohzu H, et al. Among authors: sasaki h. Am J Med Genet. 2002 Sep 15;112(1):31-7. doi: 10.1002/ajmg.10658. Am J Med Genet. 2002. PMID: 12239717

3

Lysyl 5-hydroxylation, a novel histone modification, by Jumonji domain containing 6 (JMJD6).

Unoki M, Masuda A, Dohmae N, Arita K, Yoshimatsu M, Iwai Y, Fukui Y, Ueda K, Hamamoto R, Shirakawa M, Sasaki H, Nakamura Y. Unoki M, et al. Among authors: sasaki h. J Biol Chem. 2013 Mar 1;288(9):6053-62. doi: 10.1074/jbc.M112.433284. Epub 2013 Jan 9. J Biol Chem. 2013. PMID: 23303181 Free PMC article.

4

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.

Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H. Nitta H, et al. Among authors: sasaki h. J Hum Genet. 2013 Jul;58(7):455-60. doi: 10.1038/jhg.2013.56. Epub 2013 Jun 6. J Hum Genet. 2013. PMID: 23739126

5

Sequence-specific microscopic visualization of DNA methylation status at satellite repeats in individual cell nuclei and chromosomes.

Li Y, Miyanari Y, Shirane K, Nitta H, Kubota T, Ohashi H, Okamoto A, Sasaki H. Li Y, et al. Among authors: sasaki h. Nucleic Acids Res. 2013 Oct;41(19):e186. doi: 10.1093/nar/gkt766. Epub 2013 Aug 28. Nucleic Acids Res. 2013. PMID: 23990328 Free PMC article.

6

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

Velasco G, Walton EL, Sterlin D, Hédouin S, Nitta H, Ito Y, Fouyssac F, Mégarbané A, Sasaki H, Picard C, Francastel C. Velasco G, et al. Among authors: sasaki h. Orphanet J Rare Dis. 2014 Apr 17;9:56. doi: 10.1186/1750-1172-9-56. Orphanet J Rare Dis. 2014. PMID: 24742017 Free PMC article.

7

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H. Thijssen PE, et al. Among authors: sasaki h. Nat Commun. 2016 Jun 22;7:12003. doi: 10.1038/ncomms12003. Nat Commun. 2016. PMID: 27328760 Free PMC article. No abstract available.

8

Allele-Specific Methylome and Transcriptome Analysis Reveals Widespread Imprinting in the Human Placenta.

Hamada H, Okae H, Toh H, Chiba H, Hiura H, Shirane K, Sato T, Suyama M, Yaegashi N, Sasaki H, Arima T. Hamada H, et al. Among authors: sasaki h. Am J Hum Genet. 2016 Nov 3;99(5):1045-1058. doi: 10.1016/j.ajhg.2016.08.021. Epub 2016 Oct 27. Am J Hum Genet. 2016. PMID: 27843122 Free PMC article.

9

Software updates in the Illumina HiSeq platform affect whole-genome bisulfite sequencing.

Toh H, Shirane K, Miura F, Kubo N, Ichiyanagi K, Hayashi K, Saitou M, Suyama M, Ito T, Sasaki H. Toh H, et al. Among authors: sasaki h. BMC Genomics. 2017 Jan 5;18(1):31. doi: 10.1186/s12864-016-3392-9. BMC Genomics. 2017. PMID: 28056787 Free PMC article.

10

Role of UHRF1 in de novo DNA methylation in oocytes and maintenance methylation in preimplantation embryos.

Maenohara S, Unoki M, Toh H, Ohishi H, Sharif J, Koseki H, Sasaki H. Maenohara S, et al. Among authors: sasaki h. PLoS Genet. 2017 Oct 4;13(10):e1007042. doi: 10.1371/journal.pgen.1007042. eCollection 2017 Oct. PLoS Genet. 2017. PMID: 28976982 Free PMC article.

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