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Department of Maternal-Fetal Biology

We aim to clarify mechanisms underlying abnormalities in fetal development and placentation, and/or perinatal diseases with developmental defects. Abnormalities during the perinatal period require emergency intervention and multidisciplinary treatment for both mothers and their infants. However, the detailed mechanism underlying perinatal diseases remains unknown. In many cases, there is no effective early diagnosis or curative treatments. Even if there are no typical pregnancy complications, the fetal environment can be affected by factors such as maternal nutrition, which in turn can affect an infant's gene expression patterns over a long period. It is possible that factors in the fetal environment may influence the long-term risk of common diseases, such as diabetes mellitus and coronary artery disease, in adulthood. Our research therefore not only focuses on the health of mothers and their infants, but also extends to long-term issues that influence health throughout the entire course of a lifetime.

To identify the underlying mechanisms of perinatal diseases, we take advantage of post-genomic technologies and investigate etiologies using an integrated genomic and epigenomic approach. In addition to conventional molecular biology, genetic and epigenetic mechanisms are expected to play a key role in finding new solutions in perinatal care. We plan to undertake two major research strategies by first obtaining samples for genetic/epigenetic analysis from abnormal pregnancy cases, and then confirming our findings using an animal model. In addition to these strategies, the department uses cutting-edge DNA microarray and next-generation sequencing technologies to analyze DNA and protein datasets. We also collaborate with over 20 domestic medical research institutions for genetic/epigenetic diagnosis of rare diseases.

Members

Leaders

Researchers

Staff Members

  • Keisuke Ishiwata
  • Noriko Ito
  • Kyoko Oshina
  • Hiroko Ogata-Kawata
  • Hiromi Kamura
  • Noriko Kawasaki
  • Shiori Kinoshita
  • Tetsumin So
  • Kosuke Taniguchi
  • Chiharu Tayama
  • Takeshi Nagao
  • Keita Hasegawa
  • Tatsuya Fujii
  • Asuka Hori
  • Ohsuke Migita
  • Yoshitaka Miyamoto
  • Michihiro Yamamura

Bibliography

2024

  1. Yamato G, Tsumura Y, Muramatsu H, Shimada A, Imaizumi T, Tsukagoshi H, Kaburagi T, Shiba N, Yamada Y, Deguchi T, Kawai T, Terui K, Ito E, Watanabe K, Hayashi Y. Cytokine profiling in 128 patients with transient abnormal myelopoiesis: a report from the JPLSG TAM-10 trial. Blood Adv. 2024 May 1:bloodadvances.2023011628. doi: 10.1182/bloodadvances.2023011628. Epub ahead of print.
  2. Kawai T, Kinoshita S, Takayama Y, Ohnishi E, Kamura H, Kojima K, Kikuchi H, Terao M, Sugawara T, Migita O, Kagami M, Isojima T, Yamaguchi Y, Wakui K, Ohashi H, Shimizu K, Mizuno D, Okamoto N, Fukushima Y, Takada F, Kosaki K, Takada S, Akutsu H, Ura K, Nakabayashi K, Hata K. Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome. Genet Med Open. doi: 10.1016/j.gimo.2024.101838
  3. Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M : Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia. Hum Reprod. 2024 Mar 20:deae057. doi: 10.1093/humrep/deae057. Online ahead of print.
  4. En A, Takemoto K, Yamakami Y, Nakabayashi K, Fujii M : Upregulated expression of lamin B receptor increases cell proliferation and suppresses genomic instability: implications for cellular immortalization. FEBS J. 2024 Mar 11. doi: 10.1111/febs.17113. Online ahead of print.
  5. Kinoshita S, Kojima K, Ohnishi E, Takayama Y, Kikuchi H, Takada S, Nakabayashi K, Kawai T, Hata K : Loss of NSD2 causes dysregulation of synaptic genes and altered H3K36 dimethylation in mice. Front Genet. 2024 Feb 14;15:1308234. doi: 10.3389/fgene.2024.1308234. eCollection 2024.
  6. Takahashi F, Baba T, Christianto A, Yanai S, Lee-Okada HC, Ishiwata K, Nakabayashi K, Hata K, Ishii T, Hasegawa T, Yokomizo T, Choi MH, Morohashi KI : Development of sexual dimorphism of skeletal muscles through the adrenal cortex, caused by androgen-induced global gene suppression. Cell Rep. 2024;43:113715. doi: 10.1016/j.celrep.2024.113715. Epub 2024 Feb 1.
  7. Rengifo Rojas C, Cercy J, Perillous S, Gonthier-Guéret C, Montibus B, Maupetit-Méhouas S, Espinadel A, Dupré M, Hong CC, Hata K, Nakabayashi K, Plagge A, Bouschet T, Arnaud P, Vaillant I, Court F : Biallelic non-productive enhancer-promoter interactions precede imprinted expression of Kcnk9 during mouse neural commitment. HGG Adv. 2024;5:100271. doi: 10.1016/j.xhgg.2024.100271. Online ahead of print.
  8. Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A : Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1. J Med Genet. 2024;61:239-243. doi: 10.1136/jmg-2023-109444.
  9. Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A : Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1. J Med Genet. 2024;61:239-243. doi: 10.1136/jmg-2023-109444.

2023

  1. Kawai Y, Watanabe Y, Omae Y, Miyahara R, Khor SS, Noiri E, Kitajima K, Shimanuki H, Gatanaga H, Hata K, Hattori K, Iida A, Ishibashi-Ueda H, Kaname T, Kanto T, Matsumura R, Miyo K, Noguchi M, Ozaki K, Sugiyama M, Takahashi A, Tokuda H, Tomita T, Umezawa A, Watanabe H, Yoshida S, Goto YI, Maruoka Y, Matsubara Y, Niida S, Mizokami M, Tokunaga K : Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis. PLoS Genet. 2023;19:e1010625. doi: 10.1371/journal.pgen.1010625. eCollection 2023 Dec.
  2. Miyamoto S, Hirakawa T, Noguchi Y, Urushiyama D, Miyata K, Baba T, Yotsumoto F, Yasunaga S, Nakabayashi K, Hata K, Nakagawa W, Otsuka T, Nozawa Y, Furuhata I, Mikasa J : Physical Properties of Ultrafine Bubbles Generated Using a Generator System. In Vivo. 2023 Nov-Dec;37(6):2555-2563. doi: 10.21873/invivo.13363.
  3. Yoshida T, Matsubara K, Ogata-Kawata H, Miyado M, Ishiwata K, Nakabayashi K, Hata K, Kageyama I, Tamaoka S, Shimada Y, Fukami M, Sasaki S : Variations in gender identity and sexual orientation of university students. Sex Med. 2023;11:qfad057. doi: 10.1093/sexmed/qfad057. eCollection 2023 Oct.
  4. Miyamoto S, Hirakawa T, Noguchi Y, Urushiyama D, Miyata K, Baba T, Yotsumoto F, Yasunaga S, Nakabayashi K, Hata K, Nakagawa W, Otsuka T, Nozawa Y, Furuhata I, Mikasa J : Physical Properties of Ultrafine Bubbles Generated Using a Generator System. In Vivo. 2023;37:2555-2563. doi: 10.21873/invivo.13363.
  5. Uchiyama T, Kawai T, Nakabayashi K, Nakazawa Y, Goto F, Okamura K, Nishimura T, Kato K, Watanabe N, Miura A, Yasuda T, Ando Y, Minegishi T, Edasawa K, Shimura M, Akiba Y, Sato-Otsubo A, Mizukami T, Kato M, Akashi K, Nunoi H, Onodera M : Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD. Mol Ther. Mol Ther. 2023;31:3424-3440. doi: 10.1016/j.ymthe.2023.09.004. Epub 2023 Sep 13.
  6. Oshina K, Kuroda K, Nakabayashi K, Tomikawa J, Kitade M, Sugiyama R, Hata K, Itakura A.: Gene expression signatures associated with chronic endometritis revealed by RNA sequencing. Front Med (Lausanne). 2023;10:1185284. doi: 10.3389/fmed.2023.1185284. eCollection 2023.
  7. Yoshida K, Nishi K, Ishikura S, Matsumoto T, Nakabayashi K, Yazaki R, Ohshima T, Suenaga M, Shirasawa S, Tsunoda T.: Inhibitory Effect of Pyra-Metho-Carnil on Cancer Spheroid Growth Through Decrease in Glycolysis-associated Molecules. Anticancer Res. 2023;43:3717-3726. doi: 10.21873/anticanres.16556.
  8. Tamaoka S, Fukuda A, Nakabayashi K, Matsubara K, Ogata-Kawata H, Muranishi Y, Hata K, Kato-Fukui Y, Sakamoto S, Kasahara M, Fukami M.: Rare sequence variants associated with the risk of non-syndromic biliary atresia. Hepatol Res. 2023;53:1134-1141. doi: 10.1111/hepr.13946. Epub 2023 Aug 2.
  9. Kamihara Y, Ozawa K, Muromoto J, Sugibayashi R, Wada S, Shibata Y, Hori A, Hasegawa F, Hata K, Sago H.: Clinical features of fetal hydrothorax associated with mucopolysaccharidosis-VII. J Obstet Gynaecol Res. 2023;49:2538-2543. doi: 10.1111/jog.15744. Epub 2023 Jul 19.
  10. Hasegawa K, Nakabayashi K, Ishiwata K, Kasuga Y, Hata K, Tanaka M.: A capture methyl-seq protocol with improved efficiency and cost-effectiveness using pre-pooling and enzymatic conversion. BMC Res Notes. 2023;16:141. doi: 10.1186/s13104-023-06401-3.
  11. Kawai T, Iwasaki Y, Ogata-Kawata H, Kamura H, Nakamura K, Hata K, Takano T, Nakabayashi K. : Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis. Eur J Med Genet. 2023;66:104806. doi: 10.1016/j.ejmg.2023.104806. Epub 2023 Jun 27.
  12. Yasuda T, Uchiyama T, Watanabe N, Ito N, Nakabayashi K, Mochizuki H, Onodera M : Peripheral immune system modulates Purkinje cell degeneration in Niemann-Pick disease type C1. Life Sci Alliance. 2023;6:e202201881. doi: 10.26508/lsa.202201881. Print 2023 Sep.
  13. Hasegawa K, Kumasaka N, Nakabayashi K, Kamura H, Maehara K, Kasuga Y, Hata K, Tanaka M : Genome-wide association study of preterm birth and gestational age in a Japanese population. Hum Genome Var. 2023;10:19. doi: 10.1038/s41439-023-00246-9.
  14. Katoh-Fukui Y, Hattori A, Zhang R, Terao M, Takada S, Nakabayashi K, Hata K, Yamada Y, Matsuura N, Fukami M : Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression. Hum Mol Genet. 2023 Jul 4;32(14):2318-2325. doi: 10.1093/hmg/ddad053.
  15. Yoshida M, Nakabayashi K, Yang W, Sato-Otsubo A, Tsujimoto SI, Ogata-Kawata H, Kawai T, Ishiwata K, Sakamoto M, Okamura K, Yoshida K, Shirai R, Osumi T, Kiyotani C, Shioda Y, Terashima K, Ishimaru S, Yuza Y, Takagi M, Arakawa Y, Imamura T, Hasegawa D, Inoue A, Yoshioka T, Ito S, Tomizawa D, Koh K, Matsumoto K, Kiyokawa N, Ogawa S, Manabe A, Niwa A, Hata K, Yang JJ, Kato M : Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers. Cancer Med. 2023 May;12(10):11264-11273. doi: 10.1002/cam4.5835. Epub 2023 Apr 6.
  16. Fukui K, Amari S, Yotani N, Kosaki R, Hata K, Kosuga M, Sago H, Isayama T, Ito Y : A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites. AJP Rep. 2023;13:e25-e28. doi: 10.1055/a-2028-7784. eCollection 2023 Jan.
  17. Asahina Y, Tahara U, Aoki S, Nakabayashi K, Tateishi C, Hayashi D, Amagai M, Tsuruta D, Kubo A : Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism. Eur J Hum Genet. 2023 Jun;31(6):716-720. doi: 10.1038/s41431-023-01316-w. Epub 2023 Mar 15.
  18. Shirai R, Osumi T, Keino D, Nakabayashi K, Uchiyama T, Sekiguchi M, Hiwatari M, Yoshida M, Yoshida K, Yamada Y, Tomizawa D, Takae S, Kiyokawa N, Matsumoto K, Yoshioka T, Hata K, Hori T, Suzuki N, Kato M : Minimal residual disease detection by mutation-specific droplet digital PCR for leukemia/lymphoma. Int J Hematol. 2023 Jun;117(6):910-918. doi: 10.1007/s12185-023-03566-2. Epub 2023 Mar 3.
  19. Tamaoka S, Saito K, Yoshida T, Nakabayashi K, Tatsumi K, Kawamura T, Matsuzaki T, Matsubara K, Ogata-Kawata H, Hata K, Kato-Fukui Y, Fukami M : Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome. Reprod Med Biol. 2023 Feb 23;22(1):e12504. doi: 10.1002/rmb2.12504. eCollection 2023 Jan-Dec.
  20. Onizuka M, Imanishi T, Harada K, Aoyama Y, Amaki J, Toyosaki M, Machida S, Kikkawa E, Yamada S, Nakabayashi K, Hata K, Higashimoto K, Soejima H, Ando K : Donor cord blood aging accelerates in recipients after transplantation. Sci Rep. 2023 Feb 14;13(1):2603. doi: 10.1038/s41598-023-29912-2.
  21. Nakabayashi K, Yamamura M, Haseagawa K, Hata K. Reduced Representation Bisulfite Sequencing (RRBS). Methods Mol Biol. 2023;2577:39-51. doi: 10.1007/978-1-0716-2724-2_3. PMID: 36173564

2022

  1. Okazaki Y, Taniguchi K, Miyamoto Y, Kinoshita S, Nakabayashi　K, Kaneko K, Hamada H, Satoh T, Murashima A, Hata　K : Glucocorticoids increase the risk of preterm premature rupture of membranes possibly by inducing ITGA8 gene expression in the amnion. Placenta. 2022 Aug 18;128:73-82. doi: 10.1016/j.placenta.2022.07.012. Online ahead of print.
  2. Saito S, Ono N, Sasaki T, Aoki S, Kosaki K, Kuze B, Nakabayashi　K, Amagai M, Kubo A : Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1. J Hum Genet. 2022 Aug 15. doi: 10.1038/s10038-022-01068-3. Online ahead of print.
  3. Ito Y, Kamide T, Taniguchi K, Sato T, Yamamura M, Konishi A, Takahashi K, Kishi H, Hata　K, Samura O, Okamoto A : Pregnancy Outcome and Postnatal Chromosome Analysis of the Cord Blood and Chorionic Villi in Two Cases after Intrauterine Transfer of Mosaic Aneuploid Blastocysts. Case Rep Obstet Gynecol. 2022 Jul 19;2022:1763948. doi: 10.1155/2022/1763948. eCollection 2022.
  4. Yoshida K, Nishi K, Ishikura S, Nakabayashi　K, Yazaki R, Ohshima T, Suenaga M, Shirasawa S, Tsunoda T : Cancer Spheroid Proliferation Is Suppressed by a Novel Low-toxicity Compound, Pyra-Metho-Carnil, in a Context-independent Manner. Anticancer Res. 2022;42:3993-4001. doi: 10.21873/anticanres.15895.
  5. Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi　K, Akustu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M : Familial pseudohypoparathyroidism type 1B caused by an SVA retrotransposon insertion on the GNAS locus. J Bone Miner Res. 2022 Jul 20. doi: 10.1002/jbmr.4652. Online ahead of print.
  6. Tsuruta S, Kawasaki T, Machida M, Iwatsuki K, Inaba A, Shibata S, Shindo T, Nakabayashi　K, Hakamada K, Umezawa A, Akutsu H : Development of Human Gut Organoids With Resident Tissue Macrophages as a Model of Intestinal Immune Responses. Cell Mol Gastroenterol Hepatol. 2022;14(3):726-729.e5. doi: 10.1016/j.jcmgh.2022.06.006. Epub 2022 Jun
  7. Shirai R, Osumi T, Sato-Otsubo A, Nakabayashi　K, Ishiwata K, Yamada Y, Yoshida M, Yoshida K, Shioda Y, Kiyotani C, Terashima K, Tomizawa D, Takasugi N, Takita J, Miyazaki O, Kiyokawa N, Yoneda A, Kanamori Y, Hishiki T, Matsumoto K, Hata　K, Yoshioka T, Kato M : Quantitative assessment of copy number alterations by liquid biopsy for neuroblastoma. Genes Chromosomes Cancer, 2022;61:662-669. doi: 10.1002/gcc.23073.
  8. Hori A, Migita O, Isogawa N, Takada F, Hata　K : A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia. Hum Genome Var. 2022;9:17. doi: 10.1038/s41439-022-00186-w.
  9. Aoki S, Higashimoto K, Hidaka H, Ohtsuka Y, Aoki S, Mishima H, Yoshiura KI, Nakabayashi　K, Hata　K, Yatsuki H, Hara S, Ohba T, Katabuchi H, Soejima H : Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia. Clin Epigenetics, 2022;14:64. doi: 10.1186/s13148-022-01280-0.
  10. Kyodo R, Takeuchi I, Narumi S, Shimizu H, Hata　K, Yoshioka T, Tanase-Nakao K, Shimizu T, Arai K : Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report. Clin Immunol. 2022;238:109015. doi: 10.1016/j.clim.2022.109015. Epub 2022 Apr 14.
  11. Nakajima K, Suzuki H, Yamamoto M, Yamamoto T, Kawai T, Nakabayashi　K, Hata　K, Kosaki K, Nakajima H, Sano S, Kubo A : A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R. J Dermatol. 2022;49:714-718. doi:10.1111/1346-8138.16372.

2021

  1. Kasuga Y, Kawai T, Miyakoshi K, Hori A, Tamagawa M, Hasegawa K, Ikenoue S, Ochiai D, Saisho Y, Hida M, Tanaka M, Hata K : DNA methylation analysis of cord blood samples in neonates born to gestational diabetes mothers diagnosed before 24 gestational weeks. BMJ Open Diabetes Res Care. 2022;10:e002539. doi: 10.1136/bmjdrc-2021-002539.
  2. Yamato G, Kawai T, Shiba N, Ikeda J, Hara Y, Ohki K, Tsujimoto SI, Kaburagi T, Yoshida K, Shiraishi Y, Miyano S, Kiyokawa N, Tomizawa D, Shimada A, Sotomatsu M, Arakawa H, Adachi S, Taga T, Horibe K, Ogawa S, Hata K, Hayashi Y : Genome-wide DNA Methylation Analysis in Pediatric Acute Myeloid Leukemia. Blood Adv.2022;6:3207-3219. doi: 10.1182/bloodadvances.2021005381.
  3. Sato-Otsubo A, Osumi T, Yoshida M, Iguchi A, Fukushima T, Nakabayashi K, Ogawa S, Hata K, Kato M : Genomic analysis of two rare cases of pediatric Ph-positive T-ALL. Pediatr Blood Cancer. 2022;69:e29427. doi: 10.1002/pbc.29427. Epub 2021 Oct 31.
  4. Akahane K, Kimura S, Miyake K, Watanabe A, Kagami K, Yoshimura K, Shinohara T, Harama D, Kasai S, Goi K, Kawai T, Hata K, Kiyokawa N, Koh K, Imamura T, Horibe K, Look AT, Minegishi M, Sugita K, Takita J, Inukai T : Association of allele-specific methylation of the ASNS gene with asparaginase sensitivity and prognosis in T-ALL. Blood Adv. 2022;6:212-224. doi: 10.1182/bloodadvances.2021004271.
  5. Orimo K, Tamari M, Takeda T, Kubo T, Rückert B, Motomura K, Sugiyama H, Yamada A, Saito K, Arae K, Kuriyama M, Hara M, Soyka MB, Ikutani M, Yamaguchi S, Morimoto N, Nakabayashi K, Hata K, Matsuda A, Akdis CA, Sudo K, Saito H, Nakae S, Tamaoki J, Tagaya E, Matsumoto K, Morita H : Direct platelet adhesion potentiates group 2 innate lymphoid cell functions. Allergy. 2022;77:843-855. doi: 10.1111/all.15057. Epub 2021 Aug 24.
  6. Morita M, Takeuchi I, Kato M, Migita O, Jimbo K, Shimizu H, Yoshimura S, Tomizawa D, Shimizu T, Hata K, Ishiguro A, Arai K : Intestinal outcome of bone marrow transplantation for monogenic inflammatory bowel disease. Pediatr Int. 2022;64:e14750. doi: 10.1111/ped.14750. Epub 2021 Jun 25.
  7. Nishiyama M, Wada S, Hasegawa F, Uehara Y, Ozaki M, Hata K, Ito Y, Sago H : Confined placental mosaicism of trisomy 6 detected through genome-wide NIPT was associated with placental abruption. Clin Case Rep. 2021 Dec 5;9:e05155. doi: 10.1002/ccr3.5155. eCollection 2021 Dec.
  8. Uchiyama T, Takahashi S, Nakabayashi K, Okamura K, Edasawa K, Yamada M, Watanabe N, Mochizuki E, Yasuda T, Miura A, Kato M, Tomizawa D, Otsu M, Ariga T, Onodera M : Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones. Mol Ther Methods Clin Dev. 2021 Oct 16;23:424-433. doi: 10.1016/j.omtm.2021.10.003. eCollection 2021 Dec 10.
  9. Ishikura S, Yoshida K, Hashimoto S, Nakabayashi K, Tsunoda T, Shirasawa S : CENP-B promotes the centromeric localization of ZFAT to control transcription of noncoding RNA. J Biol Chem. 2021;297:101213. doi: 10.1016/j.jbc.2021.101213. Epub 2021 Sep 20.
  10. Hori A, Migita O, Kawaguchi-Kawata R, Narumi-Kishimoto Y, Takada F, Hata K : A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia. Hum Genome Var. 2021;8:40. doi: 10.1038/s41439-021-00166-6.
  11. Yoshida M, Nakabayashi K, Yang W, Sato-Otsubo A, Tsujimoto SI, Ogata-Kawata H, Kawai T, Ishiwata K, Sakamoto M, Okamura K, Yoshida K, Shirai R, Osumi T, Moriyama T, Nishii R, Takahashi H, Kiyotani C, Shioda Y, Terashima K, Ishimaru S, Yuza Y, Takagi M, Arakawa Y, Kinoshita A, Hino M, Imamura T, Hasegawa D, Nakazawa Y, Okuya M, Kakuda H, Takasugi N, Inoue A, Ohki K, Yoshioka T, Ito S, Tomizawa D, Koh K, Matsumoto K, Sanada M, Kiyokawa N, Ohara A, Ogawa S, Manabe A, Niwa A, >Hata K, Yang JJ, Kato M : NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia. Blood Adv. 2021;5:5420-5428. doi: 10.1182/bloodadvances.2021005507.
  12. Hori A, Ogata-Kawata H, Sasaki A, Takahashi K, Taniguchi K, Migita O, Kawashima A, Okamoto A, Sekizawa A, Sago H, Takada F, Nakabayashi K, Hata K : Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles. BMC Res Notes. 2021;14:380. doi: 10.1186/s13104-021-05793-4.
  13. Urushiyama D, Ohnishi E, Suda W, Kurakazu M, Kiyoshima C, Hirakawa T, Miyata K, Yotsumoto F, Nabeshima K, Setoue T, Nagamitsu S, Hattori M, Hata K, Miyamoto S : Vaginal microbiome as a tool for prediction of chorioamnionitis in preterm labor: a pilot study. Sci Rep. 2021;11:18971. doi: 10.1038/s41598-021-98587-4.
  14. Shirai R, Osumi T, Sato-Otsubo A, Nakabayashi K, Mori T, Yoshida M, Yoshida K, Kohri M, Ishihara T, Yasue S, Imamura T, Endo M, Miyamoto S, Ohki K, Sanada M, Kiyokawa N, Ogawa S, Yoshioka T, Hata K, Takagi M, Kato M : Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1. Cancer Rep (Hoboken).2022;5:e1559. doi: 10.1002/cnr2.1559.
  15. Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K : Clinical Reports Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene. Eur J Med Genet . 2021;64:104332. doi: 10.1016/j.ejmg.2021.104332.
  16. Yoshikawa K, Kiyoshima C, Hirakawa T, Urushiyama D, Fukagawa S, Izuchi D, Sanui A, Kurakazu M, Miyata K, Nomiyama M, Setoue T, Nagamitsu S, Nabeshima K, Hata K, Yasunaga S, Miyamoto S : Diagnostic predictability of miR-4535 and miR-1915-5p expression in amniotic fluid for foetal morbidity of infection. Placenta. 2021;114:68-75. doi: 10.1016/j.placenta.2021.08.059.
  17. Yoshida M, Tomizawa D, Yoshimura S, Osumi T, Nakabayashi K, Ogata-Kawata H, Ishiwata K, Sato-Otsubo A, Kimura Y, Ito S, Matsumoto K, Deguchi T, Kiyokawa N, Yoshioka T, Hata K, Kato M : Genetic features of precursor B-cell phenotype Burkitt leukemia with IGH-MYC rearrangement. Cancer Rep (Hoboken).2022;5:e1545. doi: 10.1002/cnr2.1545.
  18. Hashimoto S, Nagai M, Nishi K, Ishikura S, Nakabayashi K, Yazaki R, Ohshima T, Suenaga M, Shirasawa S, Tsunoda T : Growth Suppression of Cancer Spheroids With Mutated KRAS by Low-toxicity Compounds from Natural Products. Anticancer Res. 2021;41:4061-4070. doi: 10.21873/anticanres.15207.
  19. Kasuga Y, Kawai T, Miyakoshi K, Saisho Y, Tamagawa M, Hasegawa K, Ikenoue S, Ochiai D, Hida M, Tanaka M, Hata K : Epigenetic Changes in Neonates Born to Mothers With Gestational Diabetes Mellitus May Be Associated With Neonatal Hypoglycaemia. Front Endocrinol (Lausanne). 2021;12:690648. doi: 10.3389/fendo.2021.690648.
  20. Ito N, Tsukamoto K, Taniguchi K, Takahashi K, Okamoto A, Aoki H, Otera-Takahashi Y, Kitagawa M, Ogata-Kawata H, Morita H, Hata K,Nakabayashi K : Isolation and characterization of fetal nucleated red blood cells from maternal blood as a target for single cell sequencing-based non-invasive genetic testing. Reprod Med Biol. 2021 Jun 14;20(3):352-360. doi: 10.1002/rmb2.12392.
  21. Ichiyama T, Kuroda K, Nagai Y, Urushiyama D, Ohno M, Yamaguchi T, Nagayoshi M, Sakuraba Y, Yamasaki F, Hata K, Miyamoto S, Itakura A, Takeda S, Tanaka A : Analysis of vaginal and endometrial microbiota communities in infertile women with a history of repeated implantation failure. Reprod Med Biol. 2021;20:334-344. doi: 10.1002/rmb2.12389.
  22. Ohki K, Kiyokawa N, Watanabe S, Iwafuchi H, Nakazawa A, Ishiwata K, Ogata-Kawata H, >Nakabayashi K, Okamura K, Tanaka F, Fukano R, Hata K, Mori T, Moriya Saito A, Hayashi Y, Taga T, Sekimizu M, Kobayashi R; Japan Children's Cancer Study Group (JCCG) : Characteristics of genetic alterations of peripheral T-cell lymphoma in childhood including identification of novel fusion genes: the Japan Children's Cancer Group (JCCG). Br J Haematol. 2021;194:718-729. doi: 10.1111/bjh.17639.
  23. Kawashima S, Hattori A, Suzuki E, Matsubara K, Toki M, Kosaki R, Hasegawa Y, Nakabayashi K, Fukami M, Kagami M : Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements. Clin Epigenetics. 2021;13:134. doi: 10.1186/s13148-021-01121-6.
  24. Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T : ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. Clin Epigenetics. 2021;13:119.
  25. Kiyoshima C, Shirasu N, Urushiyama D, Fukagawa S, Hirakawa T, Yoshikawa K, Izuchi D, Miyata K, Kurakazu M, Yotsumoto F, Hiromatsu K, Nomiyama M, Eiji O, Hirose S, Ogura Y, Hayashi T, Hata K, Nabeshima K, Yasunaga S, Miyamoto S : MicroRNAs miR-4535 and miR-1915-5p in amniotic fluid as predictive biomarkers for chorioamnionitis. Future Sci OA. 2021;7:FSO686. doi: 10.2144/fsoa-2021-0006.
  26. Aoki S, Hirata Y, Kawai T, Nakabayashi K, Hata K, Suzuki H, Kosaki K, Amagai M, Kubo A : Frequent FGFR3 and Ras Gene Mutations in Skin Tags or Acrochordons. J Invest Dermatol. 2021;141:2756-2760.e8. doi: 10.1016/j.jid.2021.03.028. Epub 2021 Apr 30.
  27. Sun S, Yano S, Nakanishi MO, Hirose M, Nakabayashi K,Hata K, Ogura A, Tanaka S : Maintenance of mouse trophoblast stem cells in KSR-based medium allows conventional 3D culture. J Reprod Dev. 2021;67:197-205. doi: 10.1262/jrd.2020-119.
  28. Kashima K, Kawai T, Nishimura R, Shiwa Y, Urayama KY, Kamura H, Takeda K, Aoto S, Ito A, Matsubara K, Nagamatsu T, Fujii T, Omori I, Shimizu M, Hyodo H, Kugu K, Matsumoto K, Shimizu A, Oka A, Mizuguchi M, Nakabayashi K, Hata K, Takahashi N : Identification of epigenetic memory candidates associated with gestational age at birth through analysis of methylome and transcriptional data. Sci Rep. 2021;11:3381. doi: 10.1038/s41598-021-83016-3.
  29. Hana T, Ogiwara H, Migita O, Nakabayashi K, Hata K, Morota N : Deleterious fibronectin type III-related gene variants may induce a spinal extradural arachnoid cyst: an exome sequencing study of identical twin cases. Childs Nerv Syst. 2021;37:2329-2334. doi: 10.1007/s00381-021-05137-4.
  30. Taniguchi K, Inoue M, Arai K, Uchida K, Migita O, Akemoto Y, Hirayama J, Takeuchi I, Shimizu H, Hata K : Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion. Hum Genome Var. 2021;8:1. doi: 10.1038/s41439-020-00128-4.
  31. Shiiya C, Aoki S, Nakabayashi K, Hata K, Amagai M, Kubo A. Linear and disseminated porokeratosis in one family showing identical and independent second hits in MVD among skin lesions, respectively: A proof of concept study. Br J Dermatol. 2021;184:1209-1212.
  32. Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M : Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome. J Med Genet. 2021;58:427-432.
  33. Ishizuka T, Fujioka K, Mori I, Takeda T, Fuwa M, Ikeda T, Taguchi K, Morita H, Nakabayashi K, Niizeki H : Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1. Mod Rheumatol Case Rep. 2021 Jul;5(2):404-408. doi: 10.1080/24725625.2020.1861744.

2020

  1. Nohara K, Nakabayashi K, Okamura K, Suzuki T, Suzuki S, Hata K : Gestational arsenic exposure induces site-specific DNA hypomethylation in active retrotransposon subfamilies in offspring sperm in mice. Epigenetics Chromatin. 2020;13:53.
  2. Ishizuka T, Fujioka K, Mori I, Takeda T, Fuwa M, Ikeda T, Taguchi K, Morita H,Nakabayashi K, Niizeki H : Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1. Mod Rheumatol Case Rep. 2021 Jul;5(2):404-408. doi: 10.1080/24725625.2020.1861744.
  3. Nohara K, Nakabayashi K, Okamura K, Suzuki T, Suzuki S, Hata K : Gestational arsenic exposure induces site-specific DNA hypomethylation in active retrotransposon subfamilies in offspring sperm in mice. Epigenetics Chromatin. 2020;13:53.
  4. Yoshida MA, Imoto J, Kawai Y, Funahashi S, Minei R, Akizuki Y, Ogura A, Nakabayashi K, Yura K, Ikeo K : Genomic and Transcriptomic Analyses of Bioluminescence Genes in the Enope Squid Watasenia scintillans. Mar Biotechnol (NY). 2020;22:760-771.
  5. Ishikura S, Nakabayashi K, Nagai M, Tsunoda T, Shirasawa S : ZFAT binds to centromeres to control noncoding RNA transcription through the KAT2B-H4K8ac-BRD4 axis. Nucleic Acids Res. 2020;48:10848-10866.
  6. Fujita H, Sasaki T, Miyamoto T, Akutsu SN, Sato S, Mori T, Nakabayashi K, Hata K, Suzuki H, Kosaki K, Matsuura S, Matsubara Y, Amagai M, Kubo A : Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation. Aging Cell. 2020;19:e13251.
  7. Hara-Isono K, Matsubara K, Fuke T, Yamazawa K, Satou K, Murakami N, Saitoh S,Nakabayashi K, Hata K, Ogata T, Fukami M, Kagami M : Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome. Clin Epigenetics. 2020;12:159.
  8. Kubota Y, Seki M, Kawai T, Isobe T, Yoshida M, Sekiguchi M, Kimura S, Watanabe K, Sato-Otsubo A, Yoshida K, Suzuki H, Kataoka K, Fujii Y, Shiraishi Y, Chiba K, Tanaka H, Hiwatari M, Oka A, Hayashi Y, Miyano S, Ogawa S, Hata K, Tanaka Y, Takita J : Comprehensive genetic analysis of pediatric germ cell tumors identifies potential drug targets. Commun Biol. 2020;3:544
  9. Hayakawa M, Tahara U, Ono N, Aoki S, Kawai T, Nakabayashi K, Hata K, Amagai M, Kubo A : Nagashima-type palmoplantar keratosis caused by biallelic maternal mutation of SERPINB7 with segmental uniparental disomy of chromosome 18q. J Dermatol. 2020;47:e453-e454.
  10. Tahara U, Ono N, Aoki S, Kawai T, Nakabayashi K, Hata K, Amagai M, Kubo A : Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3. J Dermatol. 2020;47:e393-e394.
  11. Takahashi K, Sato T, Nishiyama M, Sasaki A, Taniguchi K, Migita O, Wada S, Hata K, Sago H : Monochorionic Diamniotic Twins of Discordant External Genitalia With 45,X/46,XY Mosaicism. Mol Genet Genomic Med. 2020;e1382.
  12. Oiso N, Kubo A, Shimizu A, Suzuki H, Kosaki K, Chikugo T, Nakabayashi K, Hata K, Yanagihara S, Ishikawa O, Matsubara Y, Amagai M, Kawada A : Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca. Int J Dermatol. 2020;59:e334-e336.
  13. Sekiguchi M, Seki M, Kawai T, Yoshida K, Yoshida M, Isobe T, Hoshino N, Shirai R, Tanaka M, Souzaki R, Watanabe K, Arakawa Y, Nannya Y, Suzuki H, Fujii Y, Kataoka K, Shiraishi Y, Chiba K, Tanaka H, Shimamura T, Sato Y, Sato-Otsubo A, Kimura S, Kubota Y, Hiwatari M, Koh K, Hayashi Y, Kanamori Y, Kasahara M, Kohashi K, Kato M, Yoshioka T, Matsumoto K, Oka A, Taguchi T, Sanada M, Tanaka Y, Miyano S, Hata K, Ogawa S, Takita J : Integrated multiomics analysis of hepatoblastoma unravels its heterogeneity and provides novel druggable targets. NPJ Precis Oncol. 2020;4:20.
  14. Yagi M, Kabata M, Tanaka A, Ukai T, Ohta S, Nakabayashi K, Shimizu M, Hata K, Meissner A, Yamamoto T, Yamada Y : Identification of distinct loci for de novo DNA methylation by DNMT3A and DNMT3B during mammalian development. Nat Commun. 2020;11:3199.
  15. Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa RS, Obuse C, Miyado K, Ogata T, Fukami M, Miyado M : Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. Sci Rep. 2020;10:10985.
  16. Sato T, Ito Y, Samura O, Aoki H, Uchiyama T, Okamoto A, Hata K : Direct Assessment of Single-Cell DNA Using Crudely Purified Live Cells: A Proof of Concept for Noninvasive Prenatal Definitive Diagnosis. J Mol Diagn. 2020;22:132-140
  17. Taniguchi K, Kawai T, Kitawaki J, Tomikawa J, Nakabayashi K, Okamura K, Sago H, Hata K : Epitranscriptomic profiling in human placenta: N6-methyladenosine modification at the 5'-untranslated region is related to fetal growth and preeclampsia. FASEB J. 2020;34:494-512
  18. Sato T, Kojima T, Samura O, Kawaguchi S, Nakamura A, Nakajima M, Tanuma-Takahashi A, Nakabayashi K, Hata K, Ikegawa S, Nishimura G, Okamoto A, Yamada T : Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. Am J Med Genet A. 2020;182:735-739
  19. Takano T, Nakabayashi K, Ota H, Arai Y, Kamura H, Hata K : Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype. Eur J Med Genet. 2020;63:103824
  20. Tomikawa J, Takada S, Okamura K, Terao M, Ogata-Kawata H, Akutsu H, Tanaka S, Hata K, Nakabayashi K : Exploring trophoblast-specific Tead4 enhancers through chromatin conformation capture assays followed by functional screening. Nucleic Acids Res. 2020;48:278-289
  21. Kimura S, Seki M, Kawai T, Goto H, Yoshida K, Isobe T, Sekiguchi M, Watanabe K, Kubota Y, Nannya Y, Ueno H, Shiozawa Y, Suzuki H, Shiraishi Y, Ohki K, Kato M, Koh K, Kobayashi R, Deguchi T, Hashii Y, Imamura T, Sato A, Kiyokawa N, Manabe A, Sanada M, Mansour MR, Ohara A, Horibe K, Kobayashi M, Oka A, Hayashi Y, Miyano S, >Hata K, Ogawa S, Takita J : DNA methylation-based classification reveals difference between pediatric T-cell acute lymphoblastic leukemia and normal thymocytes. Leukemia. 2020;34:1163-1168
  22. Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M : Contribution of Gene Mutations to Silver-Russell Syndrome Phenotype: Multigene Sequencing Analysis in 92 Etiology-Unknown Patients. Clin Epigenetics. 2020;12:86.
  23. Tanaka K, Nakabayashi K, Kawai T, Tanigaki S, Matsumoto K, Hata K, Kobayashi Y : Gene expression and DNA methylation changes in BeWo cells dependent on tumor necrosis factor-α and insulin-like growth factor-I. Hum Cell. 2020;33:37-46. (Correction to: Gene expression and DNA methylation changes in BeWo cells dependent on tumor necrosis factor-α and insulin-like growth factor-I. Hum Cell. 2020;33:294)
  24. Takeuchi I, Kawai T, Nambu M, Migita O, Yoshimura S, Nishimura K, Yoshioka T, Ogura M, Kyodo R, Shimizu H, Ito S, Kato M, Onodera M, Hata K, Matsubara Y, Arai K : X-linked Inhibitor of Apoptosis Protein Deficiency Complicated With Crohn's Disease-Like Enterocolitis and Takayasu Arteritis: A Case Report. Clin Immunol. 2020;217:108495.
  25. Fukuda T, Hiraide T, Yamoto K, Nakashima M, Kawai T, Yanagi K, Ogata T, Saitsu H : Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features. Eur J Med Genet. 2020;63:103804
  26. Narumi-Kishimoto Y, Ozawa H, Yanagi K, Kawai T, Okamura K, Hata K, Kaname T, Matsubara Y : A Novel EFTUD2 Mutation Identified an Adult Male With Mandibulofacial Dysostosis Guion-Almeida Type. Clin Dysmorphol. 2020;29:186-188.

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