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2012年～2015年

2015年

  • Ohye T, Kawamura Y, Inagaki H, Yoshikawa A, Ihira M, Yoshikawa T, Kurahashi H. A simple cytogenetic method to detect chromosomally integrated human herpesvirus-6. J Virol Methods. 2016 Feb;228:74-8. doi: 10.1016/j.jviromet.2015.11.001. Epub 2015 Nov 6. PMID: 26549829. PubMed
  • Komoto S, Tacharoenmuang R, Guntapong R, Ide T, Haga K, Katayama K, Kato T, Ouchi Y, Kurahashi H, Tsuji T, Sangkitporn S, Taniguchi K. Emergence and Characterization of Unusual DS-1-Like G1P[8] Rotavirus Strains in Children with Diarrhea in Thailand. PLoS One. 2015 Nov 5;10(11):e0141739. doi: 10.1371/journal.pone.0141739. PMID: 26540260; PMCID: PMC4634990. PubMed
  • Miyazaki J, Ito M, Nishizawa H, Kato T, Minami Y, Inagaki H, Ohye T, Miyata M, Boda H, Kiriyama Y, Kuroda M, Sekiya T, Kurahashi H, Fujii T. Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease. BMC Med Genet. 2015 Oct 26;16:98. doi: 10.1186/s12881-015-0245-3. PMID: 26502924; PMCID: PMC4623244. PubMed
  • Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J. TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Sci Rep. 2015 Oct 23;5:15165. doi: 10.1038/srep15165. PMID: 26493046; PMCID: PMC4615979. PubMed
  • Tacharoenmuang R, Komoto S, Guntapong R, Ide T, Haga K, Katayama K, Kato T, Ouchi Y, Kurahashi H, Tsuji T, Sangkitporn S, Taniguchi K. Whole Genomic Analysis of an Unusual Human G6P[14] Rotavirus Strain Isolated from a Child with Diarrhea in Thailand: Evidence for Bovine-To-Human Interspecies Transmission and Reassortment Events. PLoS One. 2015 Sep 30;10(9):e0139381. doi: 10.1371/journal.pone.0139381. PMID: 26421718; PMCID: PMC4589232. PubMed
  • Nakagawa T, Taniguchi-Ikeda M, Murakami Y, Nakamura S, Motooka D, Emoto T, Satake W, Nishiyama M, Toyoshima D, Morisada N, Takada S, Tairaku S, Okamoto N, Morioka I, Kurahashi H, Toda T, Kinoshita T, Iijima K. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. Am J Med Genet A. 2016 Jan;170A(1):183-8. doi: 10.1002/ajmg.a.37397. Epub 2015 Sep 30. PMID: 26419326. PubMed
  • Morine M, Kohmoto T, Masuda K, Inagaki H, Watanabe M, Naruto T, Kurahashi H, Maeda K, Imoto I. A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome. Am J Med Genet A. 2015 Dec;167A(12):3192-6. doi: 10.1002/ajmg.a.37359. Epub 2015 Sep 28. Erratum in: Am J Med Genet A. 2016 Feb;170A(2):548. PMID: 26780237. PubMed
  • Kurahashi H, Kato T, Miyazaki J, Nishizawa H, Nishio E, Furukawa H, Miyamura H, Ito M, Endo T, Ouchi Y, Inagaki H, Fujii T. Preimplantation genetic diagnosis/screening by comprehensive molecular testing. Reprod Med Biol. 2015 Jul 14;15(1):13-19. doi: 10.1007/s12522-015-0216-6. PMID: 29259418; PMCID: PMC5715840. PubMed
  • Tairaku S, Taniguchi-Ikeda M, Okazaki Y, Noguchi Y, Nakamachi Y, Mori T, Kubokawa I, Hayakawa A, Shibata A, Emoto T, Kurahashi H, Toda T, Kawano S, Yamada H, Morioka I, Iijima K. Prenatal genetic testing for familial severe congenital protein C deficiency. Hum Genome Var. 2015 Jun 25;2:15017. doi: 10.1038/hgv.2015.17. PMID: 27081530; PMCID: PMC4785544. PubMed
  • Nakamura Y, Kikugawa S, Seki S, Takahata M, Iwasaki N, Terai H, Matsubara M, Fujioka F, Inagaki H, Kobayashi T, Kimura T, Kurahashi H, Kato H. PCSK5 mutation in a patient with the VACTERL association. BMC Res Notes. 2015 Jun 9;8:228. doi: 10.1186/s13104-015-1166-0. PMID: 26055999; PMCID: PMC4467638. PubMed
  • Tsuge I, Morishita M, Kato T, Tsutsumi M, Inagaki H, Mori Y, Yamawaki K, Inuo C, Ieda K, Ohye T, Hayakawa A, Kurahashi H. Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome. Hum Genome Var. 2015 Feb 12;2:15003. doi: 10.1038/hgv.2015.3. PMID: 27081519; PMCID: PMC4785586. PubMed

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2014年

  • Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H. Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation. Mol Cytogenet. 2014 Aug 13;7:55. doi: 10.1186/s13039-014-0055-x. PMID: 25478009; PMCID: PMC4255720. PubMed
  • Fu XJ, Morisada N, Hashimoto F, Taniguchi-Ikeda M, Hashimura Y, Ohtsubo H, Ninchoji T, Kaito H, Nozu K, Takahashi E, Nakanishi K, Kurahashi H, Iijima K. A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy. Hum Genome Var. 2014 Aug 7;1:14006. doi: 10.1038/hgv.2014.6. PMID: 27081500; PMCID: PMC4785521. PubMed
  • Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H. Prevalence of Emanuel syndrome: theoretical frequency and surveillance result. Pediatr Int. 2014 Aug;56(4):462-6. doi: 10.1111/ped.12437. PMID: 24980921. PubMed
  • Kawai A, Kusaka M, Kitagawa F, Ishii J, Fukami N, Maruyama T, Sasaki H, Shiroki R, Kurahashi H, Hoshinaga K. Serum liver-type fatty acid-binding protein predicts recovery of graft function after kidney transplantation from donors after cardiac death. Clin Transplant. 2014 Jun;28(6):749-54. doi: 10.1111/ctr.12375. Epub 2014 May 23. PMID: 24750195. PubMed
  • Tsutsumi M, Fujiwara R, Nishizawa H, Ito M, Kogo H, Inagaki H, Ohye T, Kato T, Fujii T, Kurahashi H. Age-related decrease of meiotic cohesins in human oocytes. PLoS One. 2014 May 7;9(5):e96710. doi: 10.1371/journal.pone.0096710. PMID: 24806359; PMCID: PMC4013030. PubMed
  • Endo A, Watanabe K, Ohye T, Suzuki K, Matsubara T, Shimizu N, Kurahashi H, Yoshikawa T, Katano H, Inoue N, Imai K, Takagi M, Morio T, Mizutani S. Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency. Clin Infect Dis. 2014 Aug 15;59(4):545-8. doi: 10.1093/cid/ciu323. Epub 2014 May 6. PMID: 24803376. PubMed
  • Ohye T, Inagaki H, Ihira M, Higashimoto Y, Kato K, Oikawa J, Yagasaki H, Niizuma T, Takahashi Y, Kojima S, Yoshikawa T, Kurahashi H. Dual roles for the telomeric repeats in chromosomally integrated human herpesvirus-6. Sci Rep. 2014 Apr 2;4:4559. doi: 10.1038/srep04559. PMID: 24691081; PMCID: PMC3972506. PubMed
  • Ohye T, Inagaki H, Ozaki M, Ikeda T, Kurahashi H. Signature of backward replication slippage at the copy number variation junction. J Hum Genet. 2014 May;59(5):247-50. doi: 10.1038/jhg.2014.20. Epub 2014 Mar 20. PMID: 24646726. PubMed
  • Kato T, Franconi CP, Sheridan MB, Hacker AM, Inagakai H, Glover TW, Arlt MF, Drabkin HA, Gemmill RM, Kurahashi H, Emanuel BS. Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation. Cancer Genet. 2014 Apr;207(4):133-40. doi: 10.1016/j.cancergen.2014.03.004. Epub 2014 Mar 18. PMID: 24813807; PMCID: PMC4102306. PubMed
  • Hibi Y, Ohye T, Ogawa K, Shimizu Y, Shibata M, Kagawa C, Mizuno Y, Uchino S, Kosugi S, Kurahashi H, Iwase K. Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case. Surg Today. 2014 Nov;44(11):2195-200. doi: 10.1007/s00595-013-0826-8. Epub 2014 Jan 22. PMID: 24449023; PMCID: PMC4194010. PubMed
  • Oikawa J, Tanaka J, Yoshikawa T, Morita Y, Hishiki H, Ishiwada N, Ohye T, Kurahashi H, Kohno Y. An immunocompetent child with chromosomally integrated human herpesvirus 6B accidentally identified during the care of Mycoplasma pneumoniae infection. J Infect Chemother. 2014 Jan;20(1):65-7. doi: 10.1016/j.jiac.2013.07.004. Epub 2013 Dec 11. PMID: 24462429. PubMed
  • Hibi Y, Ohye T, Ogawa K, Shimizu Y, Shibata M, Kagawa C, Mizuno Y, Kurahashi H, Iwase K. A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. Endocr J. 2014;61(1):19-23. doi: 10.1507/endocrj.ej13-0335. Epub 2013 Oct 22. PMID: 24152999. PubMed
  • Tsuge I, Ito K, Ohye T, Kando N, Kondo Y, Nakajima Y, Inuo C, Kurahashi H, Urisu A. Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient. Pediatr Pulmonol. 2014 Mar;49(3):E52-5. doi: 10.1002/ppul.22814. Epub 2013 Sep 18. PMID: 24106060. PubMed

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2013年

  • Inuzuka H, Nishizawa H, Inagaki A, Suzuki M, Ota S, Miyamura H, Miyazaki J, Sekiya T, Kurahashi H, Udagawa Y. Decreased expression of apelin in placentas from severe pre-eclampsia patients. Hypertens Pregnancy. 2013 Nov;32(4):410-21. doi: 10.3109/10641955.2013.813535. Epub 2013 Jul 11. PMID: 23844873. PubMed
  • Chen Y, Miyazaki J, Nishizawa H, Kurahashi H, Leach R, Wang K. MTA3 regulates CGB5 and Snail genes in trophoblast. Biochem Biophys Res Commun. 2013 Apr 19;433(4):379-84. doi: 10.1016/j.bbrc.2013.02.102. Epub 2013 Mar 17. PMID: 23510993; PMCID: PMC3761375. PubMed
  • Aleksic B, Kushima I, Ohye T, Ikeda M, Kunimoto S, Nakamura Y, Yoshimi A, Koide T, Iritani S, Kurahashi H, Iwata N, Ozaki N. Definition and refinement of the 7q36.3 duplication region associated with schizophrenia. Sci Rep. 2013;3:2587. doi: 10.1038/srep02587. PMID: 24002029; PMCID: PMC3761227. PubMed
  • Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS, Kurahashi H. Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations. Nat Commun. 2013;4:1592. doi: 10.1038/ncomms2595. PMID: 23481400. PubMed

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2012年

  • Kogo H, Tsutsumi M, Inagaki H, Ohye T, Kiyonari H, Kurahashi H. HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Genes Cells. 2012 Nov;17(11):897-912. doi: 10.1111/gtc.12005. Epub 2012 Oct 8. PMID: 23039116. PubMed
  • Kurahashi H, Kogo H, Tsutsumi M, Inagaki H, Ohye T. Failure of homologous synapsis and sex-specific reproduction problems. Front Genet. 2012 Jun 18;3:112. doi: 10.3389/fgene.2012.00112. PMID: 22719750; PMCID: PMC3376420. PubMed
  • Tsutsumi M, Kowa-Sugiyama H, Bolor H, Kogo H, Inagaki H, Ohye T, Yamada K, Taniguchi-Ikeda M, Toda T, Kurahashi H. Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes. J Hum Genet. 2012 Aug;57(8):515-22. doi: 10.1038/jhg.2012.61. Epub 2012 May 31. PMID: 22648182. PubMed
  • Kogo H, Tsutsumi M, Ohye T, Inagaki H, Abe T, Kurahashi H. HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes. Genes Cells. 2012 Jun;17(6):439-54. doi: 10.1111/j.1365-2443.2012.01600.x. Epub 2012 Apr 25. PMID: 22530760. PubMed
  • Kusaka M, Iwamatsu F, Kuroyanagi Y, Nakaya M, Ichino M, Marubashi S, Nagano H, Shiroki R, Kurahashi H, Hoshinaga K. Serum neutrophil gelatinase associated lipocalin during the early postoperative period predicts the recovery of graft function after kidney transplantation from donors after cardiac death. J Urol. 2012 Jun;187(6):2261-7. doi: 10.1016/j.juro.2012.01.033. Epub 2012 Apr 13. PMID: 22503046. PubMed
  • Kato T, Kurahashi H, Emanuel BS. Chromosomal translocations and palindromic AT-rich repeats. Curr Opin Genet Dev. 2012 Jun;22(3):221-8. doi: 10.1016/j.gde.2012.02.004. Epub 2012 Mar 6. PMID: 22402448; PMCID: PMC3378763. PubMed
  • Kurahashi H, Tsutsumi M, Nishiyama S, Kogo H, Inagaki H, Ohye T. Molecular basis of maternal age-related increase in oocyte aneuploidy. Congenit Anom (Kyoto). 2012 Mar;52(1):8-15. doi: 10.1111/j.1741-4520.2011.00350.x. PMID: 22348779. PubMed
  • Ahmed WA, Tsutsumi M, Nakata S, Mori T, Nishimura Y, Fujisawa T, Kato I, Nakashima M, Kurahashi H, Suzuki K. A functional variation in the hypocretin neuropeptide precursor gene may be associated with obstructive sleep apnea syndrome in Japan. Laryngoscope. 2012 Apr;122(4):925-9. doi: 10.1002/lary.23179. Epub 2012 Feb 2. PMID: 22302634. PubMed
  • Yoshihara D, Kugita M, Yamaguchi T, Aukema HM, Kurahashi H, Morita M, Hiki Y, Calvet JP, Wallace DP, Toyohara T, Abe T, Nagao S. Global Gene Expression Profiling in PPAR-γ Agonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease. PPAR Res. 2012;2012:695898. doi: 10.1155/2012/695898. Epub 2012 May 13. PMID: 22666229; PMCID: PMC3359747. PubMed
  • Kurahashi H, Ohye T, Inagaki H, Kogo H, Tsutsumi M. Mechanism of complex gross chromosomal rearrangements: a commentary on concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation. J Hum Genet. 2012 Feb;57(2):81-3. doi: 10.1038/jhg.2011.143. Epub 2011 Dec 15. PMID: 22170462. PubMed

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