業績

2021年

  • Kawamura R, Inagaki H, Yamada M, Suzuki F, Naru Y, Kurahashi H. A Turner syndrome case associated with dic(Y;22). Mol Cytogenet. 2021 Jul 8;14(1):34. doi: 10.1186/s13039-021-00556-z. PMID: 34238329; PMCID: PMC8264959. PubMed
  • Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021 Apr 15:awab056. doi: 10.1093/brain/awab056. Epub ahead of print. PMID: 33855352. PubMed
  • Kumon M, Nakae S, Murayama K, Kato T, Ohba S, Inamasu J, Yamada S, Abe M, Sasaki H, Ohno Y, Hasegawa M, Kurahashi H, Hirose Y. Myoinositol to Total Choline Ratio in Glioblastomas as a Potential Prognostic Factor in Preoperative Magnetic Resonance Spectroscopy. Neurol Med Chir (Tokyo). 2021 Jun 1. doi: 10.2176/nmc.oa.2020-0312. Epub ahead of print. PMID: 34078827. PubMed
  • Miura H, Kawamura Y, Ohye T, Hattori F, Kozawa K, Ihira M, Yatsuya H, Nishizawa H, Kurahashi H, Yoshikawa T. Inherited Chromosomally Integrated Human Herpesvirus 6 Is a Risk Factor for Spontaneous Abortion. J Infect Dis. 2021 May 28;223(10):1717-1723. doi: 10.1093/infdis/jiaa606. PMID: 32984876. PubMed
  • Miura H, Ohye T, Kozawa K, Hattori F, Kawamura Y, Ihira M, Kurahashi H, Yoshikawa T. Coinfection With Human Herpesvirus (HHV)-6B in Immunocompetent, Healthy Individuals With Chromosomally Integrated HHV-6A. J Pediatric Infect Dis Soc. 2021 Mar 26;10(2):175-178. doi: 10.1093/jpids/piaa009. PMID: 31972018. PubMed
  • Kumai T, Sadato A, Kurahashi H, Kato T, Adachi K, Hirose Y. Coexistence of RASA1 and COL4A2 variants caused pial arteriovenous fistula (AVF) in a patient with capillary malformation-arteriovenous malformation. Clin Neurol Neurosurg. 2021 Mar 24;204:106612. doi: 10.1016/j.clineuro.2021.106612. Epub ahead of print. PMID: 33799089. PubMed
  • Hitachi K, Nakatani M, Kiyofuji Y, Inagaki H, Kurahashi H, Tsuchida K. An Analysis of Differentially Expressed Coding and Long Non-Coding RNAs in Multiple Models of Skeletal Muscle Atrophy. Int J Mol Sci. 2021 Mar 4;22(5):2558. doi: 10.3390/ijms22052558. PMID: 33806354. PubMed
  • Yokoi K, Nakajima Y, Yasui T, Yoshino M, Yoshikawa T, Kurahashi H, Ito T. Novel ARG1 variants identified in a patient with arginase 1 deficiency. Hum Genome Var. 2021 Feb 4;8(1):8. doi: 10.1038/s41439-021-00139-9. PMID: 33542202; PMCID: PMC7862390. PubMed
  • Kanai S, Okanishi T, Kawai M, Yoshino G, Tsubouchi Y, Nishimura Y, Sakuma H, Kurahashi H, Maegaki Y. Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti. Brain Dev. 2021 Apr;43(4):580-584. doi: 10.1016/j.braindev.2020.12.015. Epub 2021 Jan 5. PMID: 33419638. PubMed

2020年

  • Tsutsumi M, Miura H, Inagaki H, Shinkai Y, Kato A, Kato T, Hamada-Tsutsumi S, Tanaka M, Kudo K, Yoshikawa T, Kurahashi H. An aggressive systemic mastocytosis preceded by ovarian dysgerminoma. BMC Cancer. 2020 Nov 27;20(1):1162. doi: 10.1186/s12885-020-07653-z. PMID: 33246418; PMCID: PMC7693501. PubMed
  • Kawai M, Kato T, Tsutsumi M, Shinkai Y, Inagaki H, Kurahashi H. Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti. Mol Genet Genomic Med. 2020 Dec;8(12):e1531. doi: 10.1002/mgg3.1531. Epub 2020 Oct 21. PMID: 33085210; PMCID: PMC7767561. PubMed
  • Ohwaki A, Nishizawa H, Kato A, Kato T, Miyazaki J, Yoshizawa H, Noda Y, Sakabe Y, Ichikawa R, Sekiya T, Fujii T, Kurahashi H. Placental Genetic Variants in the Upstream Region of the FLT1 Gene in Pre-eclampsia. J Reprod Infertil. 2020 Oct-Dec;21(4):240-246. doi: 10.18502/jri.v21i4.4325. PMID: 33209740; PMCID: PMC7648866. PubMed
  • Miura H, Kawamura Y, Ohye T, Hattori F, Kozawa K, Ihira M, Yatsuya H, Nishizawa H, Kurahashi H, Yoshikawa T. Inherited chromosomally integrated human herpesvirus 6 is a risk factor for spontaneous abortion. J Infect Dis. 2020 Sep 28:jiaa606. doi: 10.1093/infdis/jiaa606. Epub ahead of print. PMID: 32984876. PubMed
  • Yokoi K, Nakajima Y, Matsuoka H, Shinkai Y, Ishihara T, Maeda Y, Kato T, Katsuno H, Masumori K, Kawada K, Yoshikawa T, Ito T, Kurahashi H. Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer. Cancer Sci. 2020 Sep;111(9):3359-3366. doi: 10.1111/cas.14553. Epub 2020 Jul 20. PMID: 32619063; PMCID: PMC7469832. PubMed
  • Yasuda T, Sanada M, Nishijima D, Kanamori T, Iijima Y, Hattori H, Saito A, Miyoshi H, Ishikawa Y, Asou N, Usuki K, Hirabayashi S, Kato M, Ri M, Handa H, Ishida T, Shibayama H, Abe M, Iriyama C, Karube K, Nishikori M, Ohshima K, Kataoka K, Yoshida K, Shiraishi Y, Goto H, Adachi S, Kobayashi R, Kiyoi H, Miyazaki Y, Ogawa S, Kurahashi H, Yokoyama H, Manabe A, Iida S, Tomita A, Horibe K. Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study. Cancer Sci. 2020 Sep;111(9):3367-3378. doi: 10.1111/cas.14552. Epub 2020 Jul 17. PMID: 32619037; PMCID: PMC7469806. PubMed
  • Tsukamoto K, Shinzawa N, Kawai A, Suzuki M, Kidoya H, Takakura N, Yamaguchi H, Kameyama T, Inagaki H, Kurahashi H, Horiguchi Y, Doi Y. The Bartonella autotransporter BafA activates the host VEGF pathway to drive angiogenesis. Nat Commun. 2020 Jul 16;11(1):3571. doi: 10.1038/s41467-020-17391-2. PMID: 32678094; PMCID: PMC7366657. PubMed
  • Kato T, Inagaki H, Miyai S, Suzuki F, Naru Y, Shinkai Y, Kato A, Kanyama K, Mizuno S, Muramatsu Y, Yamamoto T, Shinya M, Tazaki Y, Hiwatashi S, Ikeda T, Ozaki M, Kurahashi H. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications. Hum Genet. 2020 Nov;139(11):1417-1427. doi: 10.1007/s00439-020-02186-8. Epub 2020 Jun 2. PMID: 32488466. PubMed
  • Ikeda M, Taniguchi-Ikeda M, Kato T, Shinkai Y, Tanaka S, Hagiwara H, Sasaki N, Masaki T, Matsumura K, Sonoo M, Kurahashi H, Saito F. Unexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach. Mol Ther Methods Clin Dev. 2020 May 22;18:131-144. doi: 10.1016/j.omtm.2020.05.024. PMID: 32637445; PMCID: PMC7321784. PubMed
  • Kawamura R, Kato T, Miyai S, Suzuki F, Naru Y, Kato M, Tanaka K, Nagasaka M, Tsutsumi M, Inagaki H, Ioroi T, Yoshida M, Nao T, Conlin LK, Iijima K, Kurahashi H, Taniguchi-Ikeda M. A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia. J Hum Genet. 2020 Aug;65(8):705-709. doi: 10.1038/s10038-020-0748-4. Epub 2020 Apr 10. PMID: 32277176; PMCID: PMC7324356. PubMed
  • Kato M, Yagami A, Tsukamoto T, Shinkai Y, Kato T, Kurahashi H. Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation. J Dermatol. 2020 Jun;47(6):669-672. doi: 10.1111/1346-8138.15313. Epub 2020 Mar 18. PMID: 32189379. PubMed
  • Kato T, Kawai M, Miyai S, Suzuki F, Tsutsumi M, Mizuno S, Ikeda T, Kurahashi H. Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases. Cytogenet Genome Res. 2020;160(3):118-123. doi: 10.1159/000507177. Epub 2020 Apr 4. PMID: 32248198. PubMed

2019年

  • Tsutsumi M, Hattori H, Akita N, Maeda N, Kubota T, Horibe K, Fujita N, Kawai M, Shinkai Y, Kato M, Kato T, Kawamura R, Suzuki F, Kurahashi H. A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report. BMC Med Genomics. 2019 Dec 5;12(1):182. doi: 10.1186/s12920-019-0640-2. PMID: 31806026; PMCID: PMC6896736. PubMed
  • Sato T, Sugiura-Ogasawara M, Ozawa F, Yamamoto T, Kato T, Kurahashi H, Kuroda T, Aoyama N, Kato K, Kobayashi R, Fukuda A, Utsunomiya T, Kuwahara A, Saito H, Takeshita T, Irahara M. Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure. Hum Reprod. 2019 Dec 1;34(12):2340-2348. doi: 10.1093/humrep/dez229. Erratum in: Hum Reprod. 2020 Jan 1;35(1):255. PMID: 31811307. PubMed
  • Yokoi K, Nakajima Y, Shinkai Y, Sano Y, Imamura M, Akiyama T, Yoshikawa T, Ito T, Kurahashi H. Clinical and genetic aspects of mild hypophosphatasia in Japanese patients. Mol Genet Metab Rep. 2019 Oct 11;21:100515. doi: 10.1016/j.ymgmr.2019.100515. PMID: 31641588; PMCID: PMC6796780. PubMed
  • Hitachi K, Inagaki H, Kurahashi H, Okada H, Tsuchida K, Honda M. Deficiency of Vgll2 Gene Alters the Gene Expression Profiling of Skeletal Muscle Subjected to Mechanical Overload. Front Sports Act Living. 2019 Oct 9;1:41. doi: 10.3389/fspor.2019.00041. PMID: 33344964; PMCID: PMC7739700. PubMed
  • Toshimitsu M, Nagaoka S, Kobori S, Ogawa M, Suzuki F, Kato T, Miyai S, Kawamura R, Inagaki H, Kurahashi H, Murotsuki J. Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome. Case Rep Obstet Gynecol. 2019 Oct 2;2019:6753184. doi: 10.1155/2019/6753184. PMID: 31662930; PMCID: PMC6791227. PubMed
  • Tahara T, Tahara S, Horiguchi N, Kato T, Shinkai Y, Okubo M, Terada T, Yoshida D, Funasaka K, Nagasaka M, Nakagawa Y, Kurahashi H, Shibata T, Tsukamoto T, Ohmiya N. Prostate Stem Cell Antigen Gene Polymorphism Is Associated with H. pylori-related Promoter DNA Methylation in Nonneoplastic Gastric Epithelium. Cancer Prev Res (Phila). 2019 Sep;12(9):579-584. doi: 10.1158/1940-6207.CAPR-19-0035. Epub 2019 Jun 18. PMID: 31213476. PubMed
  • Inagaki H, Ota S, Nishizawa H, Miyamura H, Nakahira K, Suzuki M, Nishiyama S, Kato T, Yanagihara I, Kurahashi H. Obstetric complication-associated ANXA5 promoter polymorphisms may affect gene expression via DNA secondary structures. J Hum Genet. 2019 May;64(5):459-466. doi: 10.1038/s10038-019-0578-4. Epub 2019 Feb 22. PMID: 30796324. PubMed
  • Hitachi K, Nakatani M, Takasaki A, Ouchi Y, Uezumi A, Ageta H, Inagaki H, Kurahashi H, Tsuchida K. Myogenin promoter-associated lncRNA Myoparr is essential for myogenic differentiation. EMBO Rep. 2019 Mar;20(3):e47468. doi: 10.15252/embr.201847468. Epub 2019 Jan 8. PMID: 30622218; PMCID: PMC6399612. PubMed

2018年

  • Yokoi K, Nakajima Y, Inagaki H, Tsutsumi M, Ito T, Kurahashi H. Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report. BMC Med Genet. 2018 Dec 12;19(1):210. doi: 10.1186/s12881-018-0733-3. PMID: 30541480; PMCID: PMC6292170. PubMed
  • Tahara S, Tahara T, Horiguchi N, Kato T, Shinkai Y, Yamashita H, Yamada H, Kawamura T, Terada T, Okubo M, Nagasaka M, Nakagawa Y, Shibata T, Yamada S, Urano M, Tsukamoto T, Kurahashi H, Kuroda M, Ohmiya N. DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication. Int J Cancer. 2019 Jan 1;144(1):80-88. doi: 10.1002/ijc.31667. Epub 2018 Nov 12. PMID: 29978464. PubMed
  • Boda H, Miyata M, Inagaki H, Shinkai Y, Kato T, Yoshikawa T, Kurahashi H. FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency. Eur J Med Genet. 2019 Nov;62(11):103570. doi: 10.1016/j.ejmg.2018.11.004. Epub 2018 Nov 8. PMID: 30414530. PubMed
  • Ishihara N, Inagaki H, Miyake M, Kawamura Y, Yoshikawa T, Kurahashi H. A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant. Brain Dev. 2019 Mar;41(3):285-291. doi: 10.1016/j.braindev.2018.10.008. Epub 2018 Nov 2. PMID: 30392841. PubMed
  • Tsuchiya H, Akiyama T, Kuhara T, Nakajima Y, Ohse M, Kurahashi H, Kato T, Maeda Y, Yoshinaga H, Kobayashi K. A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis. Brain Dev. 2019 Mar;41(3):280-284. doi: 10.1016/j.braindev.2018.10.005. Epub 2018 Oct 29. PMID: 30384990. PubMed
  • Ito M, Nishizawa H, Tsutsumi M, Kato A, Sakabe Y, Noda Y, Ohwaki A, Miyazaki J, Kato T, Shiogama K, Sekiya T, Kurahashi H, Fujii T. Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study. BMC Med Genet. 2018 Sep 14;19(1):166. doi: 10.1186/s12881-018-0681-y. PMID: 30217189; PMCID: PMC6137934. PubMed
  • Hayano S, Okuno Y, Tsutsumi M, Inagaki H, Fukasawa Y, Kurahashi H, Kojima S, Takahashi Y, Kato T. Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis. Int J Cardiol. 2019 Jan 1;274:290-295. doi: 10.1016/j.ijcard.2018.09.032. Epub 2018 Sep 13. Erratum in: Int J Cardiol. 2019 Oct 1;292:283. PMID: 30228022. PubMed
  • Suzumori N, Inagaki H, Ohtani A, Kumagai K, Takeda E, Yoshihara H, Sawada Y, Inuzuka S, Iwagaki S, Takahashi Y, Kurahashi H, Sugiura-Ogasawara M. Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia. Eur J Obstet Gynecol Reprod Biol. 2018 Nov;230:200-202. doi: 10.1016/j.ejogrb.2018.09.013. Epub 2018 Sep 12. PMID: 30236493. PubMed
  • Tsutsumi M, Fujita N, Suzuki F, Mishima T, Fujieda S, Watari M, Takahashi N, Tonoki H, Moriwaka O, Endo T, Kurahashi H. A constitutional jumping translocation involving the Y and acrocentric chromosomes. Asian J Androl. 2018 Aug 17;21(1):101–3. doi: 10.4103/aja.aja_60_18. Epub ahead of print. PMID: 30147084; PMCID: PMC6337947. PubMed
  • Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S, Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M, Hotta Y, Nakano T. Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy. Sci Rep. 2018 Jul 31;8(1):11507. doi: 10.1038/s41598-018-29891-9. PMID: 30065301; PMCID: PMC6068165. PubMed
  • Kawai M, Tsutsumi M, Suzuki F, Sameshima K, Dowa Y, Kyoya T, Inagaki H, Kurahashi H. Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy. Eur J Med Genet. 2019 Mar;62(3):224-228. doi: 10.1016/j.ejmg.2018.07.018. Epub 2018 Jul 18. PMID: 30031150. PubMed
  • Miura H, Kawamura Y, Hattori F, Kozawa K, Ihira M, Ohye T, Kurahashi H, Yoshikawa T. Chromosomally integrated human herpesvirus 6 in the Japanese population. J Med Virol. 2018 Oct;90(10):1636-1642. doi: 10.1002/jmv.25244. Epub 2018 Jul 10. PMID: 29905966. PubMed
  • Noda Y, Kato T, Kato A, Nishizawa H, Miyazaki J, Ito M, Terasawa S, Sekiya T, Fujii T, Kurahashi H. Potentially effective method for fetal gender determination by noninvasive prenatal testing for X-linked disease. Congenit Anom (Kyoto). 2019 May;59(3):88-92. doi: 10.1111/cga.12302. Epub 2018 Jul 6. PMID: 29926512. PubMed
  • Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S; Broad CMG, Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557. Epub 2018 Jun 14. PMID: 29851191; PMCID: PMC6481655. PubMed
  • Yokoi K, Nakajima Y, Ohye T, Inagaki H, Wada Y, Fukuda T, Sugie H, Yuasa I, Ito T, Kurahashi H. Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion. JIMD Rep. 2019;43:85-90. doi: 10.1007/8904_2018_108. Epub 2018 May 12. PMID: 29752652; PMCID: PMC6323009. PubMed
  • Kibe M, Ibara S, Inagaki H, Kato T, Kurahashi H, Ikeda T. Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. Am J Med Genet A. 2018 May;176(5):1245-1248. doi: 10.1002/ajmg.a.38681. PMID: 29681105. PubMed
  • Yamaguchi T, Yamaguchi M, Akeno K, Fujisaki M, Sumiyoshi K, Ohashi M, Sameshima H, Ozaki M, Kato M, Kato T, Hosoba E, Kurahashi H. Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome. J Obstet Gynaecol Res. 2018 Jul;44(7):1313-1317. doi: 10.1111/jog.13647. Epub 2018 Apr 19. PMID: 29673003. PubMed
  • Terasawa S, Kato A, Nishizawa H, Kato T, Yoshizawa H, Noda Y, Miyazaki J, Ito M, Sekiya T, Fujii T, Kurahashi H. Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders. Congenit Anom (Kyoto). 2019 Jan;59(1):4-10. doi: 10.1111/cga.12278. Epub 2018 Apr 15. PMID: 29542187. PubMed
  • Ohwaki A, Nishizawa H, Aida N, Kato T, Kambayashi A, Miyazaki J, Ito M, Urano M, Kiriyama Y, Kuroda M, Nakayama M, Sonta SI, Suzumori K, Sekiya T, Kurahashi H, Fujii T. Twin pregnancy with chromosomal abnormalities mimicking a gestational trophoblastic disorder and coexistent foetus on ultrasound. J Obstet Gynaecol. 2018 Oct;38(7):1023-1025. doi: 10.1080/01443615.2017.1401598. Epub 2018 Mar 9. PMID: 29523025. PubMed
  • Inoue Y, Sakamoto Y, Sugimoto M, Inagaki H, Boda H, Miyata M, Kato H, Kurahashi H, Okumoto T. A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate. Cleft Palate Craniofac J. 2018 Aug;55(7):1026-1029. doi: 10.1597/15-347. Epub 2018 Feb 26. PMID: 28140668. PubMed
  • Fukami M, Kurahashi H. Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events. Methods Mol Biol. 2018;1769:21-33. doi: 10.1007/978-1-4939-7780-2_2. PMID: 29564815. PubMed

2017年

  • Nakae S, Kato T, Murayama K, Sasaki H, Abe M, Kumon M, Kumai T, Yamashiro K, Inamasu J, Hasegawa M, Kurahashi H, Hirose Y. Remote intracranial recurrence of IDH mutant gliomas is associated with TP53 mutations and an 8q gain. Oncotarget. 2017 Sep 15;8(49):84729-84742. doi: 10.18632/oncotarget.20951. PMID: 29156679; PMCID: PMC5689569. PubMed
  • Rinaldi VD, Bolcun-Filas E, Kogo H, Kurahashi H, Schimenti JC. The DNA Damage Checkpoint Eliminates Mouse Oocytes with Chromosome Synapsis Failure. Mol Cell. 2017 Sep 21;67(6):1026-1036.e2. doi: 10.1016/j.molcel.2017.07.027. Epub 2017 Aug 24. PMID: 28844861; PMCID: PMC5621520. PubMed
  • Kawamura Y, Ohye T, Miura H, Ihira M, Kato Y, Kurahashi H, Yoshikawa T. Analysis of the origin of inherited chromosomally integrated human herpesvirus 6 in the Japanese population. J Gen Virol. 2017 Jul;98(7):1823-1830. doi: 10.1099/jgv.0.000834. Epub 2017 Jul 12. PMID: 28699856. PubMed
  • Kato M, Kato T, Hosoba E, Ohashi M, Fujisaki M, Ozaki M, Yamaguchi M, Sameshima H, Kurahashi H. PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene. Hum Genome Var. 2017 Jun 8;4:17021. doi: 10.1038/hgv.2017.21. PMID: 28611924; PMCID: PMC5462940. PubMed
  • Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H. Intragenic DOK7 deletion detected by whole- genome sequencing in congenital myasthenic syndromes. Neurol Genet. 2017 May 3;3(3):e152. doi: 10.1212/NXG.0000000000000152. PMID: 28508085; PMCID: PMC5415388. PubMed
  • Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I. A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements. Mol Cytogenet. 2017 Apr 28;10:15. doi: 10.1186/s13039-017-0316-6. PMID: 28465723; PMCID: PMC5410019. PubMed
  • Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K. Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. J Hum Genet. 2017 Sep;62(9):851-855. doi: 10.1038/jhg.2017.48. Epub 2017 Apr 27. Erratum in: J Hum Genet. 2017 Sep;62(9):869. PMID: 28446798. PubMed
  • Kato T, Ouchi Y, Inagaki H, Makita Y, Mizuno S, Kajita M, Ikeda T, Takeuchi K, Kurahashi H. Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis. Cytogenet Genome Res. 2017;153(1):1-9. doi: 10.1159/000481586. Epub 2017 Oct 27. PMID: 29073611. PubMed

2016年

  • Miyazaki J, Nishizawa H, Kambayashi A, Ito M, Noda Y, Terasawa S, Kato T, Miyamura H, Shiogama K, Sekiya T, Kurahashi H, Fujii T. Increased levels of soluble corin in pre-eclampsia and fetal growth restriction. Placenta. 2016 Dec;48:20-25. doi: 10.1016/j.placenta.2016.10.002. Epub 2016 Oct 5. PMID: 27871468. PubMed
  • Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet. 2016 Dec;24(12):1702-1706. doi: 10.1038/ejhg.2016.119. Epub 2016 Sep 21. PMID: 27650967; PMCID: PMC5117922. PubMed
  • Inagaki H, Kato T, Tsutsumi M, Ouchi Y, Ohye T, Kurahashi H. Palindrome- Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements. Front Genet. 2016 Jul 12;7:125. doi: 10.3389/fgene.2016.00125. PMID: 27462347; PMCID: PMC4940405. PubMed
  • Yasui T, Suzuki T, Hara F, Watanabe S, Uga N, Naoe A, Yoshikawa T, Ito T, Nakajima Y, Miura H, Sugioka A, Kato Y, Tokoro T, Tanahashi Y, Kasahara M, Fukuda A, Kurahashi H. Successful living donor liver transplantation for classical maple syrup urine disease. Pediatr Transplant. 2016 Aug;20(5):707-710. doi: 10.1111/petr.12738. Epub 2016 Jun 20. PMID: 27319399. PubMed
  • Boda H, Uchida H, Takaiso N, Ouchi Y, Fujita N, Kuno A, Hata T, Nagatani A, Funamoto Y, Miyata M, Yoshikawa T, Kurahashi H, Inagaki H. A PDE3A mutation in familial hypertension and brachydactyly syndrome. J Hum Genet. 2016 Aug;61(8):701-3. doi: 10.1038/jhg.2016.32. Epub 2016 Apr 7. PMID: 27053290. PubMed
  • Markoff A, Kurahashi H, Grandone E, Bogdanova N. Annexin A5 haplotype M2 is not a risk factor for recurrent spontaneous abortion in Northern Europe: is there sufficient evidence? Reprod Biomed Online. 2016 May;32(5):469-73. doi: 10.1016/j.rbmo.2016.02.004. Epub 2016 Feb 27. PMID: 26966050. PubMed
  • Taniguchi-Ikeda M, Takeshima Y, Lee T, Nishiyama M, Awano H, Yagi M, Unzaki A, Nozu K, Nishio H, Matsuo M, Kurahashi H, Toda T, Morioka I, Iijima K. Next- generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother. J Hum Genet. 2016 Apr;61(4):351-5. doi: 10.1038/jhg.2015.157. Epub 2016 Jan 7. PMID: 26740235. PubMed
  • Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, Fukami M. Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis- Dependent and -Independent Origins of Complex Genomic Alterations. Cytogenet Genome Res. 2016;150(2):86-92. doi: 10.1159/000455026. Epub 2017 Jan 19. PMID: 28099951. PubMed

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

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

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

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

2011年

  • Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature. 2011 Oct 5;478(7367):127-31. doi: 10.1038/nature10456. PMID: 21979053; PMCID: PMC3412178. PubMed
  • Kato T, Inagaki H, Tong M, Kogo H, Ohye T, Yamada K, Tsutsumi M, Emanuel BS, Kurahashi H. DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation. Mol Cytogenet. 2011 Sep 8;4:18. doi: 10.1186/1755-8166-4-18. PMID: 21899780; PMCID: PMC3197554. PubMed
  • Nishizawa H, Ota S, Suzuki M, Kato T, Sekiya T, Kurahashi H, Udagawa Y. Comparative gene expression profiling of placentas from patients with severe pre-eclampsia and unexplained fetal growth restriction. Reprod Biol Endocrinol. 2011 Aug 2;9:107. doi: 10.1186/1477-7827-9-107. PMID: 21810232; PMCID: PMC3199758. PubMed
  • Nishizawa H, Suzuki M, Pryor-Koishi K, Sekiya T, Tada S, Kurahashi H, Udagawa Y. Impact of indoleamine 2,3-dioxygenase on the antioxidant system in the placentas of severely pre-eclamptic patients. Syst Biol Reprod Med. 2011 Aug;57(4):174-8. doi: 10.3109/19396368.2011.587590. Epub 2011 Jul 1. PMID: 21718232. PubMed
  • Tsutsumi M, Kogo H, Kowa-Sugiyama H, Inagaki H, Ohye T, Kurahashi H. Characterization of a novel mouse gene encoding an SYCP3-like protein that relocalizes from the XY body to the nucleolus during prophase of male meiosis I. Biol Reprod. 2011 Jul;85(1):165-71. doi: 10.1095/biolreprod.110.087270. Epub 2011 Mar 30. PMID: 21451147. PubMed
  • Miyamura H, Nishizawa H, Ota S, Suzuki M, Inagaki A, Egusa H, Nishiyama S, Kato T, Pryor-Koishi K, Nakanishi I, Fujita T, Imayoshi Y, Markoff A, Yanagihara I, Udagawa Y, Kurahashi H. Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss. Mol Hum Reprod. 2011 Jul;17(7):447-52. doi: 10.1093/molehr/gar008. Epub 2011 Feb 2. PMID: 21289001. PubMed
  • Yoshihara D, Kurahashi H, Morita M, Kugita M, Hiki Y, Aukema HM, Yamaguchi T, Calvet JP, Wallace DP, Nagao S. PPAR-gamma agonist ameliorates kidney and liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. Am J Physiol Renal Physiol. 2011 Feb;300(2):F465-74. doi: 10.1152/ajprenal.00460.2010. Epub 2010 Dec 8. PMID: 21147840; PMCID: PMC3044004. PubMed
  • Kugita M, Nishii K, Morita M, Yoshihara D, Kowa-Sugiyama H, Yamada K, Yamaguchi T, Wallace DP, Calvet JP, Kurahashi H, Nagao S. Global gene expression profiling in early-stage polycystic kidney disease in the Han:SPRD Cy rat identifies a role for RXR signaling. Am J Physiol Renal Physiol. 2011 Jan;300(1):F177-88. doi: 10.1152/ajprenal.00470.2010. Epub 2010 Oct 6. PMID: 20926632. PubMed

2010年

  • Nagao S, Morita M, Kugita M, Yoshihara D, Yamaguchi T, Kurahashi H, Calvet JP, Wallace DP. Polycystic kidney disease in Han:SPRD Cy rats is associated with elevated expression and mislocalization of SamCystin. Am J Physiol Renal Physiol. 2010 Nov;299(5):F1078-86. doi: 10.1152/ajprenal.00504.2009. Epub 2010 Aug 18. PMID: 20719982; PMCID: PMC2980402. PubMed
  • Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet. 2010 Aug 13;87(2):209-18. doi: 10.1016/j.ajhg.2010.07.002. Epub 2010 Jul 30. PMID: 20673865; PMCID: PMC2917714. PubMed
  • Tong M, Kato T, Yamada K, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Wang J, Emanuel BS, Kurahashi H. Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm. Hum Mol Genet. 2010 Jul 1;19(13):2630-7. doi: 10.1093/hmg/ddq150. Epub 2010 Apr 13. PMID: 20392709; PMCID: PMC2883341. PubMed
  • Kogo H, Kowa-Sugiyama H, Yamada K, Bolor H, Tsutsumi M, Ohye T, Inagaki H, Taniguchi M, Toda T, Kurahashi H. Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans. J Hum Genet. 2010 May;55(5):293-9. doi: 10.1038/jhg.2010.26. Epub 2010 Mar 26. PMID: 20339383. PubMed
  • Ichino M, Kusaka M, Kuroyanagi Y, Mori T, Morooka M, Sasaki H, Shiroki R, Shishido S, Kurahashi H, Hoshinaga K. Urinary neutrophil-gelatinase associated lipocalin is a potential noninvasive marker for renal scarring in patients with vesicoureteral reflux. J Urol. 2010 May;183(5):2001-7. doi: 10.1016/j.juro.2010.01.031. Epub 2010 Mar 19. PMID: 20303517. PubMed
  • Nishizawa H, Kato T, Ota S, Nishiyama S, Pryor-Koishi K, Suzuki M, Tsutsumi M, Inagaki H, Kurahashi H, Udagawa Y. Genetic variation in the indoleamine 2,3-dioxygenase gene in pre-eclampsia. Am J Reprod Immunol. 2010 Jul 1;64(1):68-76. doi: 10.1111/j.1600-0897.2010.00820.x. Epub 2010 Feb 28. PMID: 20192952. PubMed
  • Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville MV, Medne L, Zackai EH, Emanuel BS, Kurahashi H. Paternal origin of the de novo constitutional t(11;22)(q23;q11). Eur J Hum Genet. 2010 Jul;18(7):783-7. doi: 10.1038/ejhg.2010.20. Epub 2010 Feb 24. PMID: 20179746; PMCID: PMC2987363. PubMed
  • Ohtsuki M, Morimoto SI, Izawa H, Ismail TF, Ishibashi-Ueda H, Kato Y, Horii T, Isomura T, Suma H, Nomura M, Hishida H, Kurahashi H, Ozaki Y. Angiotensin converting enzyme 2 gene expression increased compensatory for left ventricular remodeling in patients with end-stage heart failure. Int J Cardiol. 2010 Nov 19;145(2):333-334. doi: 10.1016/j.ijcard.2009.11.057. Epub 2010 Jan 8. PMID: 20060185. PubMed
  • Kusaka M, Kuroyanagi Y, Ichino M, Sasaki H, Maruyama T, Hayakawa K, Shiroki R, Sugitani A, Kurahashi H, Hoshinaga K. Serum tissue inhibitor of metalloproteinases 1 (TIMP-1) predicts organ recovery from delayed graft function after kidney transplantation from donors after cardiac death. Cell Transplant. 2010;19(6):723-9. doi: 10.3727/096368910X508825. Epub 2010 Jun 3. PMID: 20525436. PubMed
  • Nishiyama S, Kishi T, Kato T, Suzuki M, Nishizawa H, Pryor-Koishi K, Sawada T, Nishiyama Y, Iwata N, Udagawa Y, Kurahashi H. CD9 gene variations are not associated with female infertility in humans. Gynecol Obstet Invest. 2010;69(2):116-21. doi: 10.1159/000262451. Epub 2009 Dec 2. PMID: 19955810. PubMed

2009年

  • Kurahashi H, Inagaki H, Kato T, Hosoba E, Kogo H, Ohye T, Tsutsumi M, Bolor H, Tong M, Emanuel BS. Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells. Hum Mol Genet. 2009 Sep 15;18(18):3397-406. doi: 10.1093/hmg/ddp279. Epub 2009 Jun 11. PMID: 19520744; PMCID: PMC2729664. PubMed
  • Kurahashi H, Bolor H, Kato T, Kogo H, Tsutsumi M, Inagaki H, Ohye T. Recent advance in our understanding of the molecular nature of chromosomal abnormalities. J Hum Genet. 2009 May;54(5):253-60. doi: 10.1038/jhg.2009.35. Epub 2009 Apr 17. PMID: 19373258. PubMed
  • Ichino M, Kuroyanagi Y, Kusaka M, Mori T, Ishikawa K, Shiroki R, Kurahashi H, Hoshinaga K. Increased urinary neutrophil gelatinase associated lipocalin levels in a rat model of upper urinary tract infection. J Urol. 2009 May;181(5):2326-31. doi: 10.1016/j.juro.2009.01.010. Epub 2009 Mar 19. PMID: 19303090. PubMed
  • Nishizawa H, Pryor-Koishi K, Suzuki M, Kato T, Sekiya T, Tada S, Kurahashi H, Udagawa Y. Analysis of nitric oxide metabolism as a placental or maternal factor underlying the etiology of pre-eclampsia. Gynecol Obstet Invest. 2009;68(4):239-47. doi: 10.1159/000238381. Epub 2009 Sep 17. PMID: 19776611. PubMed
  • Kusaka M, Kuroyanagi Y, Mori T, Nagaoka K, Sasaki H, Maruyama T, Hayakawa K, Shiroki R, Kurahashi H, Hoshinaga K. Global expression profiles in 1-hour biopsy specimens of human kidney transplantation from donors after cardiac death. Cell Transplant. 2009;18(5):647-56. doi: 10.1177/096368970901805-621. PMID: 19775527. PubMed
  • Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Kato T, Tong M, Nishizawa H, Pryor-Koishi K, Kitaoka E, Sawada T, Nishiyama Y, Udagawa Y, Kurahashi H. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am J Hum Genet. 2009 Jan;84(1):14-20. doi: 10.1016/j.ajhg.2008.12.002. Epub 2008 Dec 24. PMID: 19110213; PMCID: PMC2668043. PubMed
  • Inagaki H, Ohye T, Kogo H, Kato T, Bolor H, Taniguchi M, Shaikh TH, Emanuel BS, Kurahashi H. Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans. Genome Res. 2009 Feb;19(2):191-8. doi: 10.1101/gr.079244.108. Epub 2008 Nov 7. PMID: 18997000; PMCID: PMC2652202. PubMed

2008年

  • Nishizawa H, Pryor-Koishi K, Suzuki M, Kato T, Kogo H, Sekiya T, Kurahashi H, Udagawa Y. Increased levels of pregnancy-associated plasma protein-A2 in the serum of pre-eclamptic patients. Mol Hum Reprod. 2008 Oct;14(10):595-602. doi: 10.1093/molehr/gan054. Epub 2008 Sep 18. PMID: 18805800. PubMed
  • Nishizawa H, Hasegawa K, Suzuki M, Achiwa Y, Kato T, Saito K, Kurahashi H, Udagawa Y. Mouse model for allogeneic immune reaction against fetus recapitulates human pre-eclampsia. J Obstet Gynaecol Res. 2008 Feb;34(1):1-6. doi: 10.1111/j.1447-0756.2007.00679.x. PMID: 18226121. PubMed
  • Ichino M, Mori T, Kusaka M, Kuroyanagi Y, Ishikawa K, Shiroki R, Kowa H, Kurahashi H, Hoshinaga K. Global gene expression profiling of renal scarring in a rat model of pyelonephritis. Pediatr Nephrol. 2008 Jul;23(7):1059-71. doi: 10.1007/s00467-007-0717-6. Epub 2008 Jan 23. PMID: 18214547. PubMed
  • Kato T, Inagaki H, Kogo H, Ohye T, Yamada K, Emanuel BS, Kurahashi H. Two different forms of palindrome resolution in the human genome: deletion or translocation. Hum Mol Genet. 2008 Apr 15;17(8):1184-91. doi: 10.1093/hmg/ddn008. Epub 2008 Jan 9. PMID: 18184694. PubMed
  • Kusaka M, Kuroyanagi Y, Mori T, Nagaoka K, Sasaki H, Maruyama T, Hayakawa K, Shiroki R, Kurahashi H, Hoshinaga K. Serum neutrophil gelatinase-associated lipocalin as a predictor of organ recovery from delayed graft function after kidney transplantation from donors after cardiac death. Cell Transplant. 2008;17(1-2):129-34. doi: 10.3727/000000008783907116. PMID: 18472448. PubMed

2007年

  • Kano H, Kurahashi H, Toda T. Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype. Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):19034-9. doi: 10.1073/pnas.0705483104. Epub 2007 Nov 5. PMID: 17984064; PMCID: PMC2141903. PubMed
  • Nishizawa H, Hasegawa K, Suzuki M, Kamoshida S, Kato T, Saito K, Tsutsumi Y, Kurahashi H, Udagawa Y. The etiological role of allogeneic fetal rejection in pre-eclampsia. Am J Reprod Immunol. 2007 Jul;58(1):11-20. doi: 10.1111/j.1600-0897.2007.00484.x. PMID: 17565543. PubMed
  • Kato T, Yamada K, Inagaki H, Kogo H, Ohye T, Emanuel BS, Kurahashi H. Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm. Fertil Steril. 2007 Nov;88(5):1446-8. doi: 10.1016/j.fertnstert.2007.01.019. Epub 2007 Apr 19. PMID: 17448469; PMCID: PMC2810970. PubMed
  • Kurahashi H, Inagaki H, Hosoba E, Kato T, Ohye T, Kogo H, Emanuel BS. Molecular cloning of a translocation breakpoint hotspot in 22q11. Genome Res. 2007 Apr;17(4):461-9. doi: 10.1101/gr.5769507. Epub 2007 Jan 31. PMID: 17267815; PMCID: PMC1832093. PubMed
  • Kusaka M, Kuroyanagi Y, Kowa H, Nagaoka K, Mori T, Yamada K, Shiroki R, Kurahashi H, Hoshinaga K. Genomewide expression profiles of rat model renal isografts from brain dead donors. Transplantation. 2007 Jan 15;83(1):62-70. doi: 10.1097/01.tp.0000250485.53865.b8. PMID: 17220792. PubMed
  • Kogo H, Inagaki H, Ohye T, Kato T, Emanuel BS, Kurahashi H. Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats. Nucleic Acids Res. 2007;35(4):1198-208. doi: 10.1093/nar/gkm036. Epub 2007 Jan 30. PMID: 17264116; PMCID: PMC1851657. PubMed
  • Tokuda M, Kadokawa Y, Kurahashi H, Marunouchi T. CDH1 is a specific marker for undifferentiated spermatogonia in mouse testes. Biol Reprod. 2007 Jan;76(1):130-41. doi: 10.1095/biolreprod.106.053181. Epub 2006 Oct 11. PMID: 17035642. PubMed

2006年

  • Mori T, Kurahashi H, Shinka T, Nakahori Y, Taniguchi M, Toda T, Iwamoto T. Candidate genes for male factor infertility–validation. Fertil Steril. 2006 Nov;86(5):1553-4; author reply 1554. doi: 10.1016/j.fertnstert.2006.05.011. Epub 2006 Aug 22. PMID: 16926002. PubMed
  • Ashley T, Gaeth AP, Inagaki H, Seftel A, Cohen MM, Anderson LK, Kurahashi H, Emanuel BS. Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22). Am J Hum Genet. 2006 Sep;79(3):524-38. doi: 10.1086/507652. Epub 2006 Aug 1. PMID: 16909390; PMCID: PMC1559541. PubMed
  • Kurahashi H, Inagaki H, Ohye T, Kogo H, Kato T, Emanuel BS. Palindrome- mediated chromosomal translocations in humans. DNA Repair (Amst). 2006 Sep 8;5(9-10):1136-45. doi: 10.1016/j.dnarep.2006.05.035. Epub 2006 Jul 10. PMID: 16829213; PMCID: PMC2824556. PubMed
  • Nagao S, Nishii K, Katsuyama M, Kurahashi H, Marunouchi T, Takahashi H, Wallace DP. Increased water intake decreases progression of polycystic kidney disease in the PCK rat. J Am Soc Nephrol. 2006 Aug;17(8):2220-7. doi: 10.1681/ASN.2006030251. Epub 2006 Jun 28. PMID: 16807403. PubMed
  • Kurahashi H, Inagaki H, Ohye T, Kogo H, Kato T, Emanuel BS. Chromosomal translocations mediated by palindromic DNA. Cell Cycle. 2006 Jun;5(12):1297-303. doi: 10.4161/cc.5.12.2809. Epub 2006 Jun 15. PMID: 16760666. PubMed
  • Kawada JI, Kimura H, Kamachi Y, Nishikawa K, Taniguchi M, Nagaoka K, Kurahashi H, Kojima S, Morishima T. Analysis of gene-expression profiles by oligonucleotide microarray in children with influenza. J Gen Virol. 2006 Jun;87(Pt 6):1677-1683. doi: 10.1099/vir.0.81670-0. PMID: 16690933. PubMed
  • Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T. Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies. Hum Mol Genet. 2006 Apr 15;15(8):1279-89. doi: 10.1093/hmg/ddl045. Epub 2006 Mar 10. PMID: 16531417. PubMed
  • Kato T, Inagaki H, Yamada K, Kogo H, Ohye T, Kowa H, Nagaoka K, Taniguchi M, Emanuel BS, Kurahashi H. Genetic variation affects de novo translocation frequency. Science. 2006 Feb 17;311(5763):971. doi: 10.1126/science.1121452. Erratum in: Science. 2006 Jun 9;312(5779):1472. PMID: 16484486; PMCID: PMC2818512. PubMed
  • Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? Biochem Biophys Res Commun. 2006 Apr 7;342(2):489-502. doi: 10.1016/j.bbrc.2005.12.224. Epub 2006 Feb 3. PMID: 16487936. PubMed
  • Kinoshita K, Shinka T, Sato Y, Kurahashi H, Kowa H, Chen G, Umeno M, Toida K, Kiyokage E, Nakano T, Ito S, Nakahori Y. Expression analysis of a mouse orthologue of HSFY, a candidate for the azoospermic factor on the human Y chromosome. J Med Invest. 2006 Feb;53(1-2):117-22. doi: 10.2152/jmi.53.117. PMID: 16538004. PubMed
  • Kogo H, Ito SY, Moritoki Y, Kurahashi H, Fujimoto T. Differential expression of caveolin-3 in mouse smooth muscle cells in vivo. Cell Tissue Res. 2006 May;324(2):291-300. doi: 10.1007/s00441-005-0130-z. Epub 2006 Jan 28. PMID: 16609918. PubMed

2005年

  • Kano H, Kurosawa K, Horii E, Ikegawa S, Yoshikawa H, Kurahashi H, Toda T. Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. Hum Genet. 2005 Dec;118(3-4):477-83. doi: 10.1007/s00439-005-0074-0. Epub 2005 Oct 19. PMID: 16235095. PubMed
  • Inagaki H, Ohye T, Kogo H, Yamada K, Kowa H, Shaikh TH, Emanuel BS, Kurahashi H. Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates. Hum Mutat. 2005 Oct;26(4):332-42. doi: 10.1002/humu.20228. PMID: 16116616; PMCID: PMC2818517. PubMed
  • Kurahashi H, Taniguchi M, Meno C, Taniguchi Y, Takeda S, Horie M, Otani H, Toda T. Basement membrane fragility underlies embryonic lethality in fukutin- null mice. Neurobiol Dis. 2005 Jun-Jul;19(1-2):208-17. doi: 10.1016/j.nbd.2004.12.018. PMID: 15837576. PubMed
  • Nagao S, Kusaka M, Nishii K, Marunouchi T, Kurahashi H, Takahashi H, Grantham J. Androgen receptor pathway in rats with autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2005 Jul;16(7):2052-62. doi: 10.1681/ASN.2004070595. Epub 2005 May 11. PMID: 15888569. PubMed

2004年

  • Tanaka-Taya K, Sashihara J, Kurahashi H, Amo K, Miyagawa H, Kondo K, Okada S, Yamanishi K. Human herpesvirus 6 (HHV-6) is transmitted from parent to child in an integrated form and characterization of cases with chromosomally integrated HHV-6 DNA. J Med Virol. 2004 Jul;73(3):465-73. doi: 10.1002/jmv.20113. PMID: 15170644. PubMed
  • Kurahashi H, Inagaki H, Yamada K, Ohye T, Taniguchi M, Emanuel BS, Toda T. Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. J Biol Chem. 2004 Aug 20;279(34):35377-83. doi: 10.1074/jbc.M400354200. Epub 2004 Jun 20. PMID: 15208332; PMCID: PMC2810964. PubMed
  • Suzuki T, Kurahashi H, Ichinose H. Ras/MEK pathway is required for NGF- induced expression of tyrosine hydroxylase gene. Biochem Biophys Res Commun. 2004 Mar 5;315(2):389-96. doi: 10.1016/j.bbrc.2004.01.068. PMID: 14766220. PubMed

お知らせ

日本人類遺伝学会第66回大会で、学会賞受賞講演を行いました。

倉橋浩樹教授が、「日本人類遺伝学会 学会賞」を受賞し、2021年10月15日に日本人類遺伝学会第66回大会で、…

当研究室の研究成果がMol Cytogenetに掲載されました

当研究室の河村理恵助教が筆頭著者の論文「A Turner syndrome case associated w…

第4回JAPCO会議を開催しました

第4回 JAPCO 会議プログラム 日時:2021年5月9日(日)13:00~ 開催方法:Web(zoom) …