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周産期病態研究部

研究部紹介

胎児と胎児付属物（胎盤）の発生・分化異常や、それに伴う周産期（妊娠後期から新生児早期まで）の病気の解明を目指しています。分子生物学的手法に加え、ゲノム・エピゲノムの観点から病態を理解し、ポストゲノムシークエンス時代の、新たな周産期医療に資する研究成果を目標としています。
周産期ゲノミクス研究室、胎児発育研究室、母性管理研究室の三研究室が中心となって、生殖細胞の形成から出生に至るまで、広く母体と胎児（新生児）と胎盤に関する研究を行っています。

研究内容

周産期の異常は、母子双方に対して緊急かつ集学的な医療介入が必要になります。しかし、周産期に起こる疾患の詳細なメカニズムは未解明な点が多く、早期の診断や根治的な治療法が確立されていない疾患が数多くあります。また、特に異常のない妊娠経過に見えても、胎児期の環境（母体の栄養状態など）が不良の場合、出生後も長期にわたり児の遺伝子発現状態に影響を与えることがわかってきました。さらに、胎児期の環境に起因する長期の影響が成人期にもおよび、生活習慣病等の発症リスクになりうる可能性も指摘されています。そのため、「周産期病態」の研究は成育医療に止まらず、生涯にわたる健康を左右する重要な課題といえます。
これらの背景を踏まえ、本研究部は、周産期に起こる疾患の直接の病因病態を解明すること、そして適切な診断治療法を開発することを目的とします。この目標を達成するために我々は、大きく二つのアプローチで研究に臨んでいます。第一に、実際の症例から頂いた試料（治療の過程で必要とされる採血検査の少量の余剰など）を用い、異常妊娠症例を、特に分子生物学的・遺伝学的手法で解析しています。第二に、異常妊娠症例解析から得られた知見の詳細を再検証するために、培養細胞やモデル動物を用いて解析しています。
これら二つの中核プロジェクトに加え、DNAマイクロアレイ技術や大規模超高速DNA塩基配列解析（次世代シークエンサー）などを積極的に応用し、先進的なヒト異常妊娠の病因病態解明、診断法開発を目指しています。また、国内20カ所以上の医療機関および研究機関と連携して、希少疾患の分子遺伝学的診断情報と研究を進めています。

スタッフ

周産期病態研究部

深見 真紀（部長・併任）
秦 健一郎（シニアフェロー）

周産期ゲノミクス研究室

中林 一彦（室長）

胎児発育研究室

河合 智子（室長）

母性管理研究室

山口 晃史（室長・併任）

部室員

冨川 順子（上級研究員）
小川 湧也（研究員）
石渡 啓介
伊東 紀子
大科 恭子
緒方 広子
嘉村 浩美
川崎 範子
蘇 哲民
高野 貴子
谷口 公介
田山 千春
長尾　健
長谷川 慶太
林 夏希
堀 あすか
森澤 和美

業績

2026

  1. Fuchigami T, Hayashi Y, Kuroda A, Zaki ZMM, Mohd Ariffin NAF, Daun KA, Morimura N, Kitagawa H, Azami T, Tatsumoto S, Go Y, Uchida K, Takahashi S, Nakabayashi K, Ema M, Hitoshi S. Klf5 regulates the transition from apical radial glia to intermediate progenitor cells in the developing mammalian brain. J Neurosci. 2026 Mar 26:e0584252026. doi: 10.1523/JNEUROSCI.0584-25.2026. Epub ahead of print.
  2. Fukuda R, Pak K, Yasuda H, Kawai T, Hata K, Mochimaru N, Takenouchi M, Tanaka R, Hashimoto R, Ueda Y, Hashimoto S, Shimazaki K, Yoshida K. Age-dependent reductions in natural moisturizing factor and caspase-14 in paediatric atopic dermatitis. J Eur Acad Dermatol Venereol. 2026 Mar 19. doi: 10.1111/jdv.70417. Epub ahead of print.
  3. Komori T, Kawai T, Okuno Y, Tsujimoto S, Kato S, Kamitori T, Saida S, Ikeda J, Ohki K, Kato M, Tomizawa D, Taga T, Takita J, Horibe K, Adachi S, Hayashi Y, Ito S, Shiba N. Identification of cellular hierarchy in paediatric acute myeloid leukaemia: The Japan Children's Cancer Group trial (JCCG AML-12). Br J Haematol. 2026 Apr;208(4):1252-1262. doi: 10.1111/bjh.70355. Epub 2026 Feb 3.
  4. Takeuchi I, Taniguchi K, Arai K, Uchiyama T, Terao M, Hori A, Kawai T, Yoshioka T, Kyodo R, Shimizu H, Fujita S, Motomura K, Okazaki Y, Ishikawa T, Ogura M, Hayashi K, Matsumoto K, Takada S, Onodera M, Morita H, Hata K. Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report. Intest Res. 2026 Jan;24(1):182-188. doi: 10.5217/ir.2024.00190. Epub 2025 Apr 4.

2025

  1. Hayashi Y, Abdullah A, Fuke S, Fazera Mohd Ariffin NA, Daun KA, Morimura N, Nakabayashi K, Tatsumoto S, Go Y, Hosoya T, Hitoshi S. Glial cells missing 1 triggers gliosis and angiogenesis after neonatal brain injury. iScience. 2025 Oct 25;28(11):113860. doi: 10.1016/j.isci.2025.113860.
  2. Kawai T, Aoki T, Nakabayashi K, Hata K, Kaname T, Kosaki R. DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome. Hum Genome Var. 2025 Nov 28;12(1):27. doi: 10.1038/s41439-025-00332-0.
  3. Urakawa T, Hattori A, Ogiwara Y, Masubuchi H, Igarashi M, Nakamura S, Hara-Isono K, Ishiwata K, Ogata-Kawata H, Kamura H, Kuroki Y, Nakabayashi K, Fukami M, Kagami M. A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes. Genome Med. 2025 Nov 18;17(1):144. doi: 10.1186/s13073-025-01559-w.
  4. Hara-Isono K, Inoue T, Nakamura A, Fuke T, Yamazawa K, Matsubara K, Fukami M, Ogata T, Kawai T, Kagami M. Investigation of methylation profiles in Silver-Russell syndrome to explore episignatures. Clin Epigenetics. 2025 Nov 7;17(1):184. doi: 10.1186/s13148-025-01993-y.
  5. Ito N, Fujii T, Taniguchi K, Okazaki Y, Ogata-Kawata H, Sago H, Hata K, Nakabayashi K. : Isolation of Nucleated Red Blood Cells With Intact Genomic DNA From Cord Blood by Applying G&T-Seq. Reprod Med Biol. 2025 Sep 1;24(1):e12671. doi: 10.1002/rmb2.12671. eCollection 2025 Jan-Dec.
  6. Inoue M, Takahashi F, Yanai S, Ishiwata K, Tanaka T, Yanase T, Shima Y, Nakabayashi K, Hata K, Morohashi KI, Baba T : Regulation of Energy and Cholesterol Metabolisms During Fetal Leydig Cell Differentiation by DHH, PDGF, and Ad4BP/SF-1. Endocrinology. 2025 Sep 8;166(10):bqaf132. doi: 10.1210/endocr/bqaf132.
  7. Sakamoto A, Uchiyama T, Nakabayashi K, Shimada A, Shimonodan H, Kojima H, Yamamoto M, Keino D, Anan T, Nakamura K, Sato A, Ohara O, Kaname T, Yasuda T, Iguchi A, Ito S, Kunishima S, Ishiguro A : Differential transcript level of ANKRD26 and clinical phenotype among the ANKRD26 variants in the Japanese registry for congenital thrombocytopenia. Br J Haematol. 2025 Sep 15. doi: 10.1111/bjh.70169. Online ahead of print.
  8. Ohnishi E, Kinoshita S, Nakabayashi K, Hata K, Kawai T : Loss-of-function mutation of NSD2 is associated with abnormal placentation accompanied by fetal growth retardation in mice. PLoS One. 2025 Jul 21;20(7):e0328243. doi: 10.1371/journal.pone.0328243. eCollection 2025.
  9. Motosugi N, Hasegawa K, Kurosaki N, Kawaguchi E, Izumi K, Iida Y, Higashiseto M, Yokoyama K, Sasaki A, Nakabayashi K, Fukuda A : Highly efficient XIST reactivation in female hPSC by transient dual inhibition of TP53 and DNA methylation during Cas9 mediated genome editing. Stem Cell Res Ther. 2025 Jul 18;16(1):389. doi: 10.1186/s13287-025-04501-4.
  10. Suzuki E, Shima H, Ueda A, Nakabayashi K, Matsubara K, Kuroki Y, Kanno J, Fukami M : De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome. Case Rep Endocrinol. 2025 Jul 3;2025:2350842. doi: 10.1155/crie/2350842. eCollection 2025.
  11. Okubo H, Ito Y, Kawai T, Kamura H, Yamamura M, Kaneko M, Hasegawa A, Takahashi K, Kobayashi M, Kawame H, Hata K, Samura O, Okamoto A : A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome. Taiwan J Obstet Gynecol. 2025 Jul;64(4):707-710. doi: 10.1016/j.tjog.2024.12.030.
  12. Hirakawa T, Nakabayashi K, Ito N, Ishiwata K, Urushiyama D, Miyata K, Baba T, Hata K, Yasunaga S, Yotsumoto F, Tachibana K, Miyamoto S : Culture Medium Enriched with Ultrafine Carbon Monoxide Bubbles Enhances In Vitro Blastocyst Formation of In Vivo-Fertilized Mouse Zygotes. Antioxidants (Basel). 2025 Jun 4;14(6):684. doi: 10.3390/antiox14060684.
  13. Kobayashi H, Igaki T, Kumamoto S, Tanaka K, Takashima T, Nagaoka SI, Suzuki S, Hayashi M, Renfree MB, Kawahara M, Saito S, Kobayashi T, Nagashima H, Matsunari H, Nakano K, Uchikura A, Kiyonari H, Kaneko M, Imai H, Nakabayashi K, Lorincz M, Kurimoto K : Post-fertilization transcription initiation in an ancestral LTR retrotransposon drives lineage-specific genomic imprinting of ZDBF2. Elife. 2025 Jun 2;13:RP94502. doi: 10.7554/eLife.94502.
  14. Iwata K, Nakabayashi K, Ishiwata K, Nakamura K, Kameno Y, Hata K, Matsuzaki H : Genome-wide DNA methylation profiles in the raphe nuclei of patients with autism spectrum disorder. Psychiatry Clin Neurosci. 2025 Jul;79(7):415-424. doi: 10.1111/pcn.13830. Epub 2025 Apr 24.
  15. Fujimori K, Shimizu S, Ishikawa T, Gocho Y, Sakaguchi H, Uchiyama T, Nakabayashi K, Tomizawa D, Onodera M, Matsumoto K, Kawai T, Iguchi A : Hematopoietic Cell Transplantation in a Patient With X-Linked Chronic Granulomatous Disease With McLeod Phenotype. Pediatr Transplant. 2025 May;29(3):e70086. doi: 10.1111/petr.70086.
  16. Takeuchi I, Taniguchi K, Arai K, Uchiyama T, Terao M, Hori A, Kawai T, Yoshioka T, Kyodo R, Shimizu H, Fujita S, Motomura K, Okazaki Y, Ishikawa T, Ogura M, Hayashi K, Matsumoto K, Takada S, Onodera M, Morita H, Hata K : Inflammatory bowel disease in a young female patient with a novel de novo TRAF3 frameshift variant responsive to ustekinumab: a case report. Intest Res. 2025 Apr 4. doi: 10.5217/ir.2024.00190. Online ahead of print.
  17. Yamamoto H, Komine M, Ohmine K, Yoshida K, Nakabayashi K, Ohtsuki M : Pachydermoperiostosis successfully treated with celecoxib. J Dermatol. 2025 Jun;52(6):e582-e583. doi: 10.1111/1346-8138.17714. Epub 2025 Mar 25.
  18. Kawasaki H, Nakabayashi K, Ikeda M, Onda T, Tomotaki S, Torishima M, Saito A, Ohashi H, Minamiguchi S, Hata K, Hayakawa M, Kawai M, Cho K, Kosugi S, Yamada T : Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report. Am J Med Genet A. 2025 Jul;197(7):e64056. doi: 10.1002/ajmg.a.64056. Epub 2025 Mar 20.
  19. Taniguchi K, Hasegawa F, Okazaki Y, Hori A, Ogata-Kawata H, Aoto S, Migita O, Kawai T, Nakabayashi K, Okamura K, Fukui K, Wada S, Ozawa K, Ito Y, Sago H, Hata K : Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons. Mol Genet Genomic Med. 2025 Mar;13(3):e70092. doi: 10.1002/mgg3.70092.
  20. Umezawa A, Fukuda A, Horikawa R, Uchida H, Enosawa S, Oishi Y, Nakamura N, Sasaki K, Yanagi Y, Shimizu S, Nakao T, Kodama T, Sakamoto S, Hayakawa I, Akiyama S, Saku N, Miyata S, Ite K, Javaregowda PK, Toyoda M, Nonaka H, Nakamura K, Ito Y, Fukuhara Y, Miyazaki O, Nosaka S, Nakabayashi K, Haga C, Yoshioka T, Masuda A, Ohkura T, Yamazaki-Inoue M, Machida M, Abutani-Sakamoto R, Miyajima S, Akutsu H, Matsubara Y, Igarashi T, Kasahara M : First-in-human clinical study of an embryonic stem cell product for urea cycle disorders. Stem Cell Res Ther. 2025 Mar 6;16(1):120. doi: 10.1186/s13287-025-04162-3.
  21. Mizuguchi T, Okamoto N, Hara T, Nishimura N, Sakamoto M, Fu L, Uchiyama Y, Tsuchida N, Hamanaka K, Koshimizu E, Fujita A, Misawa K, Nakabayashi K, Miyatake S, Matsumoto N : Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature. Clin Epigenetics. 2025 Feb 18;17(1):27. doi: 10.1186/s13148-025-01832-0.
  22. Takegami T, I Mamiya M, Yonekura S, Yoshida K, Tanaka R, Nakabayashi K, Niizeki H, Nomura T, Kabashima K : Acetaminophen as a possible treatment option for pachydermoperiostosis carrying mutated SLCO2A1: Case series. J Dermatol. 2025 Apr;52(4):749-753. doi: 10.1111/1346-8138.17651. Epub 2025 Feb 6.
  23. Urushiyama D, Kiyoshima C, Hirakawa T, Shibata M, Imi S, Kurakazu M, Miyata K, Setoue T, Nagamitsu S, Nomiyama M, Nakabayashi K, Yotsumoto F, Hata K, Miyamoto S : Assessment of intra-amniotic colonization based on copy numbers of 16S ribosomal deoxyribonucleic acid: A diagnostic and prognostic study. J Obstet Gynaecol Res. 2025 Feb;51(2):e16223. doi: 10.1111/jog.16223.
  24. Kawai T, Jwa SC, Ogawa K, Tanaka H, Aoto S, Kamura H, Morisaki N, Fujiwara T, Hata K : Maternal Vitamin D Deficiency Is a Risk Factor for Infants' Epigenetic Gestational Age Acceleration at Birth in Japan: A Cohort Study. Nutrients. 2025 Jan 20;17(2):368. doi: 10.3390/nu17020368.
  25. Nohara K, Suzuki T, Okamura K, Kawai T, Nakabayashi K : Acquired sperm hypomethylation by gestational arsenic exposure is re-established in both the paternal and maternal genomes of post-epigenetic reprogramming embryos. Epigenetics Chromatin. 2025 Jan 16;18(1):4. doi: 10.1186/s13072-025-00569-7.
  26. Kanai Y, Takahashi H, Hasegawa F, Hori A, Suzuki H, Takahashi S, Fukushima H, Takada H, Horie K, Ozawa K, Furukawa R, Kosaki K, Hata K : Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases. Am J Med Genet A. 2025 Feb;197(2):e63884. doi: 10.1002/ajmg.a.63884. Epub 2024 Sep 26.

2024

  1. Ishida K, Kiyoshima C, Urushiyama D, Hirakawa T, Imi S, Hamasaki M, Nagamitsu S, Nomiyama M, Hata K, Yotsumoto F : Clinical Significance of miR-4535 and miR-191-5p in Maternal Serum as Independent Biomarkers for Severe Chorioamnionitis. Cureus. 2024 Oct 22;16(10):e72120. doi: 10.7759/cureus.72120. eCollection 2024 Oct.
  2. Morita-Nakagawa M, Okamura K, Nakabayashi K, Inanaga Y, Shimizu S, Guo WZ, Fujino M, Li XK : Supervised machine learning of outbred mouse genotypes to predict hepatic immunological tolerance of individuals. Sci Rep. 2024 Oct 17;14(1):24399. doi: 10.1038/s41598-024-73999-0.
  3. Suzuki E, Nakabayashi K, Aoto S, Ogata T, Kuroki Y, Miyado M, Fukami M, Matsubara K : DNA methylation changes in the genome of patients with hypogonadotropic hypogonadism. Heliyon. 2024 Sep 7;10(18):e37648. doi: 10.1016/j.heliyon.2024.e37648. PMID: 39309794; PMCID: PMC11416509.
  4. Imai T, Mitsuhashi S, Isahaya K, Shibata S, Kawai Y, Omae Y, Tokunaga K; NCBN Controls WGS Consortium; Yamano Y : Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy. Hum Genome Var. 2024 Aug 29;11(1):34. doi: 10.1038/s41439-024-00283-y. PMID: 39209822 Free PMC article.
  5. Masuda L, Hasegawa A, Kamura H, Hasegawa F, Yamamura M, Taniguchi K, Ito Y, Hata K, Samura O, Okamoto A : Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia. Hum Genome Var. 2024 Aug 26;11(1):32. doi: 10.1038/s41439-024-00290-z.
  6. Lukyanchuk A, Muraki N, Kawai T, Sato T, Hata K, Ito T, Tajima A : Long-term exposure to diesel exhaust particles induces concordant changes in DNA methylation and transcriptome in human adenocarcinoma alveolar basal epithelial cells. Epigenetics Chromatin. 2024 Aug 5;17(1):24. doi: 10.1186/s13072-024-00549-3.
  7. Hirakawa T, Yotsumoto F, Imi S, Ito N, Ishiwata K, Nakabayashi K, Watanabe A, Shirasu N, Urushiyama D, Miyata K, Takahashi S, Baba T, Hata K, Yasunaga S, Miyamoto S : Adipose-derived Mesenchymal Stem Cell Transplantation Improves Ovarian Function and Oocyte Quality in Aged Mice. Anticancer Res. 2024 Aug;44(8):3577-3586. doi: 10.21873/anticanres.17180.
  8. Yoshitomi M, Tsujimoto SI, Ikeda J, Kawai T, Ohki K, Hara Y, Yamato G, Tanoshima R, Tomizawa D, Shimada A, Horibe K, Adachi S, Taga T, Tawa A, Hayashi Y, Ito S, Shiba N : High DOCK1 expression identifies a distinct prognostic subgroup of pediatric acute myeloid leukemia: Results of the Japanese Pediatric Leukemia/Lymphoma Study Group AML-05 trial. Pediatr Blood Cancer. 2024 Sep;71(9):e31151. doi: 10.1002/pbc.31151. Epub 2024 Jul 2.
  9. Hirakawa T, Nakabayashi K, Ito N, Hata K, Imi S, Shibata M, Urushiyama D, Miyata K, Yotsumoto F, Yasunaga S, Baba T, Miyamoto S : Transwell Culture with Adipose Tissue-Derived Stem Cells and Fertilized Eggs Mimics the In Vivo Development of Fertilized Eggs to Blastocysts in the Fallopian Tube: An Animal Study. Antioxidants (Basel). 2024 Jun 8;13(6):704. doi: 10.3390/antiox13060704.
  10. 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 Feb 27;43(2):113715. doi: 10.1016/j.celrep.2024.113715. Epub 2024 Feb 1.
  11. Saito S, Saito Y, Sato S, Aoki S, Fujita H, Ito Y, Ono N, Funakoshi T, Kawai T, Suzuki H, Sasaki T, Tanaka T, Inoie M, Hata K, Kataoka K, Kosaki K, Amagai M, Nakabayashi K, Kubo A. Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis. Am J Hum Genet. 2024 May 2;111(5):896-912. doi: 10.1016/j.ajhg.2024.03.017. Epub 2024 Apr 22.
  12. 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 Apr 11;5(2):100271. doi: 10.1016/j.xhgg.2024.100271. Epub 2024 Jan 30.
  13. Kitamura N, Ito Y, Kawai T, Kamura H, Yamamura M, Okubo H, Hasegawa A, Inoue M, Takahashi K, Miya M, Kawame H, Samura O, Okamoto A : Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism. Taiwan J Obstet Gynecol. 2024 May;63(3):418-421. doi: 10.1016/j.tjog.2024.03.009.
  14. Narumi S, Nagasaki K, Kiriya M, Uehara E, Akiba K, Tanase-Nakao K, Shimura K, Abe K, Sugisawa C, Ishii T, Miyako K, Hasegawa Y, Maruo Y, Muroya K, Watanabe N, Nishihara E, Ito Y, Kogai T, Kameyama K, Nakabayashi K, Hata K, Fukami M, Shima H, Kikuchi A, Takayama J, Tamiya G, Hasegawa T : Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nat Genet. 2024 May;56(5):869-876. doi: 10.1038/s41588-024-01735-5. Epub 2024 May 7.
  15. 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 Jun 25;8(12):3120-3129. doi: 10.1182/bloodadvances.2023011628.
  16. 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
  17. Saito S, Saito Y, Sato S, Aoki S, Fujita H, Ito Y, Ono N, Funakoshi T, Kawai T, Suzuki H, Sasaki T, Tanaka T, Inoie M, Hata K, Kataoka K, Kosaki K, Amagai M, Nakabayashi K, Kubo A : Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis. Am J Hum Genet. 2024 May 2;111(5):896-912. doi: 10.1016/j.ajhg.2024.03.017. Epub 2024 Apr 22.
  18. Nagayama S, Takahashi H, Hasegawa F, Hori A, Kizami S, Furukawa R, Horie K, Ogoyama M, Hata K, Fujiwara H : A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia. Congenit Anom (Kyoto). 2024 Congenit Anom (Kyoto). 2024 Jul;64(4):177-181. doi: 10.1111/cga.12569.
  19. Hattori A, Seki A, Inaba N, Nakabayashi K, Takeda K, Tatsusmi K, Naiki Y, Nakamura A, Ishiwata K, Matsumoto K, Nasu M, Okamura K, Michigami T, Katoh-Fukui Y, Umezawa A, Ogata T, Kagami M, Fukami M : Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes. Sci Rep. 2024 Apr 5;14(1):8069. doi: 10.1038/s41598-024-58530-9. Free PMC article.
  20. 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 May 2;39(5):1131-1140. doi: 10.1093/humrep/deae057.
  21. 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 May;291(10):2155-2171. doi: 10.1111/febs.17113. Epub 2024 Mar 11.
  22. 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.
  23. 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.
  24. 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 Apr 11;5(2):100271. doi: 10.1016/j.xhgg.2024.100271. Epub 2024 Jan 30.
  25. 1. 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.

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