Sasaki K - Search Results

1

[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome].

Ogi T, Nakazawa Y, Sasaki K, Guo C, Yoshiura K, Utani A, Nagayama Y. Ogi T, et al. Among authors: sasaki k. Seikagaku. 2013 Mar;85(3):133-44. Seikagaku. 2013. PMID: 23631307 Review. Japanese. No abstract available.

2

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T. Nakazawa Y, et al. Among authors: sasaki k. Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229. Nat Genet. 2012. PMID: 22466610 Free article.

3

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Kashiyama K, et al. Among authors: sasaki k. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623389 Free PMC article.

4

Agile parallel bioinformatics workflow management using Pwrake.

Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura K. Mishima H, et al. Among authors: sasaki k. BMC Res Notes. 2011 Sep 8;4:331. doi: 10.1186/1756-0500-4-331. BMC Res Notes. 2011. PMID: 21899774 Free PMC article.

5

Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.

Sasaki K, Mishima H, Miura K, Yoshiura K. Sasaki K, et al. Gene. 2013 Jan 10;512(2):267-74. doi: 10.1016/j.gene.2012.10.035. Epub 2012 Oct 27. Gene. 2013. PMID: 23111162 Free article.

6

Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.

Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Sasaki K, Yoshida A, Yoshiura K, Masuzaki H. Abe S, et al. Among authors: sasaki k. J Hum Genet. 2013 May;58(5):250-3. doi: 10.1038/jhg.2013.7. Epub 2013 Mar 7. J Hum Genet. 2013. PMID: 23466823

7

Copy number alteration and uniparental disomy analysis categorizes Japanese papillary thyroid carcinomas into distinct groups.

Matsuse M, Sasaki K, Nishihara E, Minami S, Hayashida C, Kondo H, Suzuki K, Saenko V, Yoshiura K, Mitsutake N, Yamashita S. Matsuse M, et al. Among authors: sasaki k. PLoS One. 2012;7(4):e36063. doi: 10.1371/journal.pone.0036063. Epub 2012 Apr 30. PLoS One. 2012. PMID: 22558328 Free PMC article.

8

Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum.

Miura K, Kurabayashi T, Satoh C, Sasaki K, Ishiguro T, Yoshiura KI, Masuzaki H. Miura K, et al. Among authors: sasaki k. J Hum Genet. 2017 Sep;62(9):803-808. doi: 10.1038/jhg.2017.45. Epub 2017 Apr 27. J Hum Genet. 2017. PMID: 28446797

9

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.

Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura K, Niikawa N. Kuniba H, et al. Among authors: sasaki k. Am J Med Genet A. 2009 Feb 15;149A(4):785-7. doi: 10.1002/ajmg.a.32335. Am J Med Genet A. 2009. PMID: 18642361 No abstract available.

10

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.

Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, Nomiyama M, Takayanagi T, Fukuzawa R, Yatsuki H, Koide K, Nishioka K, Joh K, Watanabe Y, Yoshiura K, Soejima H. Higashimoto K, et al. Among authors: sasaki k. Eur J Hum Genet. 2013 Nov;21(11):1316-9. doi: 10.1038/ejhg.2013.45. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486540 Free PMC article.

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