業績

2013年業績
  1. Sasaki K, Mishima H, Miura K, Yoshiura KI. Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations. Gene512(2): 267-274, 2013 Jan.
  2. Yamada A, Ishikawa T, Ota I, Kimura M, Shimizu D, Tanabe M, Chishima T, Sasaki T, Ichikawa Y, Morita S, Yoshiura KI, Takabe K, Endo I. High expression of ATP-binding cassette transporter ABCC11 in breast tumors is associated with aggressive subtypes and low disease-free survival. Breast Cancer Res Treat 137(3): 773-782, 2013 Feb.
  3. Ishikawa T, Toyoda Y, Yoshiura K, Niikawa N. Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion. Front Genet 3:306, 2013 Jan 3.
  4. Higashijima A, Miura K, Mishima H, Kinoshita A, Jo O, Abe S, Hasegawa Y, Miura S, Yamasaki K, Yoshida A, Yoshiura K, Masuzaki H. Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy. Prenat Diagn 33(3): 214-222, 2013 Mar.
  5. 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 KI, Soejima H. Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome. Eur J Hum Genet 2013 Mar 13. doi: 10.1038/ejhg.2013.45. [Epub ahead of print]
  6. Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Sasa K, Yoshida A, Yoshiura K, Masuzaki H. Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer. J Hum Genet 2013 Mar 7. doi: 10.1038/jhg.2013.7. [Epub ahead of print]
  7. Kashiyama K, Nakazawa Y, Pilz D, Guo C, Shimada M, Sasaki K, Fawcett H, Wing J, Lewin S, Carr L, 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, and Ogi T. Malfunction of the ERCC1/XPF endonuclease results in diverse clinical manifestations and causes three nucleotide excision-repair-deficient disorders, Cockayne Syndrome, xeroderma pigmentosum and Fanconi Anemia. Am J Hum Genet, 2013 92(5):807-819. May2; doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25.
  8. Hamaguchi D, Miura K, Abe S, Kinoshita A, Miura S, Yamasaki K, Yoshiura KI, Masuzaki H. Initial viral load in cases of single human papillomavirus 16 or 52 persistent infection is associated with progression of later cytopathological findings in the uterine cervix. J Med Virol. 2013 Aug 19. doi: 10.1002/jmv.23709. [Epub ahead of print]
  9. Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Gene A. 2013 Sep;161(9):2234-2243. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2.
  10. Nakao K, Oikawa M, Arai J, Mussazhanova Z, Kondo H, Shichijo K, Nakashima M, Hayashi T, Yoshiura K, Hatachi T, Nagayasu T. A Predictive Factor of the Quality of Microarray Comparative Genomic Hybridization Analysis for Formalin-fixed Paraffin-embedded Archival Tissue. 2013. Diagn Mol Pathol. Sep;22(3):174-180. doi: 10.1097/PDM.0b013e31828191de.
  11. Hasegawa Y, Miura K, Furuya K, Yoshiura K, Masuzaki H.  Identification of Complete Hydatidiform Mole Pregnancy-Associated MicroRNAs in Plasma. Clin Chem. 2013. Sep;59(9):1410-1412. doi: 10.1373/clinchem.2013.206391. Epub 2013 Jul 1. No abstract available.
  12. Ogi T, Nakazawa Y, Sasaki K, Guo C, Yoshiura K, Utani A, Nagayama Y. [Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome]. Seikagaku. 2013. Mar;85(3):133-144. Review. Japanese. No abstract available.