業績

2018年業績
  1. Horai M, Satoh S, Matsuo M, Iwanaga M, Horio K, Jo T, Takasaki Y, Kawaguchi Y, Tsushima H, Yoshida S, Taguchi M, Itonaga H, Sawayama Y, Taguchi J, Imaizumi Y, Hata T, Moriuchi Y, Haase D, Yoshiura KI, Miyazaki Y. Chromosomal analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki. Br J Haematol. 2018 Feb;180(3):381-390. doi: 10.1111/bjh.15050. Epub 2017 Dec 19.
  2. Morimoto Y, Shimada-Sugimoto M, Otowa T, Yoshida S, Kinoshita A, Mishima H, Yamaguchi N, Mori T, Imamura A, Ozawa H, Kurotaki N, Ziegler C, Domschke K, Deckert J, Umekage T, Tochigi M, Kaiya H, Okazaki Y, Tokunaga K, Sasaki T, Yoshiura KI, Ono S. Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder. Transl Psychiatry. 2018 Feb 2;8(1):41. doi: 10.1038/s41398-017-0088-0.
  3. Horai M, Mishima H, Hayashida C, Kinoshita A, Nakane Y, Matsuo T, Tsuruda K, Yanagihara K, Sato S, Imanishi D, Imaizumi Y, Hata T, Miyazaki Y, Yoshiura KI. Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing. J Hum Genet. 2018 Mar;63(3):357-363. doi: 10.1038/s10038-017-0392-9. Epub 2017 Dec 26.
  4. Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, Sawada H, Nishimura T, Nunoi H, Yoshiura KI, Moriuchi H, Dateki S. A Hot-spot Mutation in CDC42 (p.Tyr64Cys) and Novel Phenotypes in a Third Patient with Takenouchi-Kosaki Syndrome. J Hum Genet. 2018 Mar;63(3):387-390. doi: 10.1038/s10038-017-0396-5. Epub 2018 Jan 15.
  5. Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura KI, Moriuchi H. Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome. Hum Genome Var. 2018 Mar 29;5:18014. doi: 10.1038/hgv.2018.14. eCollection 2018. PMID: 29619239
  6. Koga T, Migita K, Sato T, Sato S, Umeda M, Nonaka F, Fukui S, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura KI, Eguchi K, Kawakami A. MicroRNA-204-3p inhibits lipopolysaccharide-induced cytokines in familial Mediterranean fever via the phosphoinositide 3-kinase γ pathway. Rheumatology (Oxford). 2018 Apr 1;57(4):718-726. doi: 10.1093/rheumatology/kex451. PMID: 29294109
  7. Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura KI, Moriuchi H, Dateki S. A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure. CEN Case Rep. 2018 May;7(1):94-97. doi: 10.1007/s13730-018-0302-9. Epub 2018 Jan 9. PMID: 29318530
  8. Murakami Y, Miura K, Sato S, Higashijima A, Hasegawa Y, Miura S, Yoshiura KI, Masuzaki H. Reference values for circulating pregnancy-associated microRNAs in maternal plasma and their clinical usefulness in uncomplicated pregnancy and hypertensive disorder of pregnancy. J Obstet Gynaecol Res. 2018 May;44(5):840-851. doi: 10.1111/jog.13610. Epub 2018 Mar 8. PMID: 29516574
  9. Sato S, Itonaga H, Taguchi M, Sawayama Y, Imanishi D, Tsushima H, Hata T, Moriuchi Y, Mishima H, Kinoshita A, Yoshiura KI, Miyazaki Y. Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm. Int J Hematol. 2018 Aug;108(2):213-217. doi: 10.1007/s12185-018-2419-1. Epub 2018 Feb 7. PMID: 29417354
  10. Hori YS, Yamada A, Matsuda N, Ono Y, Starenki D, Sosonkina N, Yoshiura KI, Niikawa N, Ohta T. A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene. Hum Biol. 2017 Oct;89(4):305-307. PMID: 30047321
  11. Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K. Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion. Eur J Med Genet. 2018 Oct;61(10):631-633. doi: 10.1016/j.ejmg.2018.04.008. Epub 2018 Apr 17. PMID: 29673649
  12. Kikuiri T, Mishima H, Imura H, Suzuki S, Matsuzawa Y, Nakamura T, Fukumoto S, Yoshimura Y, Watanabe S, Kinoshita A, Yamada T, Shindoh M, Sugita Y, Maeda H, Yawaka Y, Mikoya T, Natsume N, Yoshiura KI. Patients with SATB2-associated syndrome exhibiting multiple odontomas. Am J Med Genet A. 2018 Dec;176(12):2614-2622. doi: 10.1002/ajmg.a.40670. Epub 2018 Dec 21. PMID:30575289
  13. Hidaka H, Higashimoto K, Aoki S, Mishima H, Hayashida C, Maeda T, Koga Y, Yatsuki H, Joh K, Noshiro H, Iwakiri R, Kawaguchi A, Yoshiura KI, Fujimoto K, Soejima H. Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer. Clin Epigenetics. 2018 Dec 4;10(1):150. doi: 10.1186/s13148-018-0578-9. PMID:30509319