2016年～2019年

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

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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

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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

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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