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業績の紹介

2021年

  • Maruwaka K, Nakajima Y, Yamada T, Tanaka T, Kosaki R, Inagaki H, Kosaki K, Kurahashi H. Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. Am J Med Genet A. 2022 Mar 25. doi: 10.1002/ajmg.a.62733
  • Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium, Mizusawa H. Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures. J Hum Genet. 2022 Mar 23. doi: 10.1038/s10038-022-01025-0
  • Kato T, Miyai S, Suzuki H, Murase Y, Ota S, Yamauchi H, Ammae M, Nakano T, Nakaoka Y, Inoue T, Morimoto Y, Fukuda A, Utsunomiya T, Nishizawa H, Kurahashi H. Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping. Reprod Med Biol. 2022 Feb 27;21(1):e12449. doi: 10.1002/rmb2.12449
  • Muto Y, Sasaki H, Sumitomo M, Inagaki H, Kato M, Kato T, Miyai S, Kurahashi H, Shiroki R. Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex. Hum Genome Var. 2022 Feb 10;9(1):5. doi: 10.1038/s41439-022-00181-1
  • Yamamoto H, Inagaki H, Hayano S, Kurahashi H, Kato T. Familial cardiac septal defect due to a novel nine-base deletion in TBX20. Pediatr Int. 2022 Jan;64(1):e14995. doi: 10.1111/ped.14995
  • Kondoh T, Nakajima Y, Yokoi K, Matsumoto Y, Inagaki H, Kato T, Nakajima Y, Ito T, Yoshikawa T, Kurahashi H. Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes. Tohoku J Exp Med. 2022 Jan;256(1):37-41. doi: 10.1620/tjem.256.37
  • Mariya T, Kato T, Sugimoto T, Miyai S, Inagaki H, Ohye T, Sugihara E, Muramatsu Y, Mizuno S, Kurahashi H. Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes. J Hum Genet. 2022 Jan 14. doi: 10.1038/s10038-021-01004-x
  • Shibata K, Kunisada M, Miyai S, Kawamori S, Kurahashi H, Nishigori C. Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant. J Dermatol. 2021 Dec;48(12):e577-e578. doi: 10.1111/1346-8138.16141
  • Ohwaki A, Nishizawa H, Kato A, Yoshizawa H, Miyazaki J, Noda Y, Sakabe Y, Sekiya T, Fujii T, Kurahashi H. Altered serum soluble furin and prorenin receptor levels in pregnancies with pre-eclampsia and fetal growth restriction. J Gynecol Obstet Hum Reprod. 2021 Dec;50(10):102198. doi: 10.1016/j.jogoh.2021.102198
  • Sakabe Y, Nishizawa H, Kato A, Noda Y, Ohwaki A, Yoshizawa H, Kato T, Sekiya T, Fujii T, Kurahashi H. Longitudinal study of the vaginal microbiome in pregnancies involving preterm labor. Fujita Med J. 2021 Nov 25. doi: 10.20407/fmj.2021-017. Online ahead of print.
  • Sakabe Y, Nishizawa H, Kato A, Yoshizawa H, Noda Y, Ohwaki A, Sekiya T, Fujii T, Kurahashi H. High serum concentrations of lipopolysaccharide binding protein in pregnancies with pre-eclampsia. Hypertens Res Pregnancy. 2021 Sep 17;9(4) 68-74. doi: 10.14390/jsshp.HRP2021-013.
  • 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

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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
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