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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。

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周産期病態研究部

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

部室員

業績

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 Jan 10;bloodadvances.2021005381. doi: 10.1182/bloodadvances.2021005381. Online ahead of print.
  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). 2021 Sep 23:e1559. doi: 10.1002/cnr2.1559. Online ahead of print.
  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). 2021 Sep 2:e1545. doi: 10.1002/cnr2.1545. Online ahead of print.
  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.

2019

  1. Bogutz AB, Brind'Amour J, Kobayashi H, Jensen KN, Nakabayashi K, Imai H, Lorincz MC, Lefebvre L : Evolution of imprinting via lineage-specific insertion of retroviral promoters. Nat Commun. 2019;10:5674.
  2. Nakamura Y, Okuno Y, Muramatsu H, Kawai T, Satou K, Ieda D, Hori I, Ohashi K, Negishi Y, Hattori A, Takahashi Y, Kojima S, Saitoh S : A novel CUL4B splice site variant in a young male exhibiting less pronounced features. Hum Genome Var. 2019;6:43.
  3. Takahashi K, Migita O, Sasaki A, Nasu M, Kawashima A, Sekizawa A, Sato T, Ito Y, Sago H, Okamoto A, Nakabayashi K, Hata K : Amplicon Sequencing-Based Noninvasive Fetal Genotyping for RHD-Positive D Antigen-Negative Alleles. Clin Chem. 2019 Sep 5. pii: clinchem. 2019;65:1307-1316.
  4. Usui H, Nakabayashi K, Maehara K, Hata K, Shozu M : Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles. Sci Rep. 2019;9:12542.
  5. Kubota Y, Uryu K, Ito T, Seki M, Kawai T, Isobe T, Kumagai T, Toki T, Yoshida K, Suzuki H, Kataoka K, Shiraishi Y, Chiba K, Tanaka H, Ohki K, Kiyokawa N, Kagawa J, Miyano S, Oka A, Hayashi Y, Ogawa S, Terui K, Sato A, Hata K, Ito E, Takita J : Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome. Cancer Sci. 2019;110:3358-3367.
  6. Yamaguchi Y, Tayama C, Tomikawa J, Akaishi R,Kamura H, Matsuoka K, Wake N, Minakami H, Kato K, Yamada T, Nakabayashi K, Hata K : Placenta-specific epimutation at H19-DMR among common pregnancy complications: its frequency and effect on the expression patterns of H19 and IGF2. Clin Epigenetics. 2019;11:113.
  7. Osumi T, Watanabe A, Okamura K, Nakabayashi K, Yoshida M, Tsujimoto SI, Uchiyama M, Takahashi H, Tomizawa D, Hata K, Kiyokawa N, Kato M : Acute promyelocytic leukemia with a cryptic insertion of RARA into TBL1XR1. Genes Chromosomes Cancer. 2019;58:820-823.
  8. Oda Y, Uchiyama Y, Motomura A, Fujita A, Azuma Y, Harita Y, Mizuguchi T, Yanagi K, Ogata H, Hata K, Kaname T, Matsubara Y, Wakui K, Matsumoto N : Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. J Hum Genet. 2019;64:1005-1014.
  9. Okamura K, Nakabayashi K, Kawai T, Suzuki T, Sano T, Hata K, Nohara K : DNA methylation changes involved in the tumor increase in F2 males born to gestationally arsenite exposed F1 male mice. Cancer Sci. 2019;110:2629-2642.
  10. Kubo A, Sasaki T, Suzuki H, Shiohama A, Aoki S, Sato S, Fujita H, Ono N, Umegaki-Arao N, Kawai T, Nakabayashi K, Hata K, Yamada D, Matsubara Y, Kosaki K, Amagai M : Clonal expansion of second-hit cells with somatic recombinations or C>T transitions form porokeratosis in MVD or MVK mutant heterozygotes. J Invest Dermatol. 2019;139:2458-2466.
  11. Yoshida M, Nakabayashi K, Ogata-Kawata H, Osumi T, Tsujimoto SI, Shirai R, Yoshida K, Okamura K, Matsumoto K, Kiyokawa N, Tomizawa D, Hata K, Kato M : A novel KMT2A-ACTN2 fusion in infant B-cell acute lymphoblastic leukemia. Pediatr Blood Cancer. 2019:e27821.
  12. Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T : Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis. J Am Soc Nephrol. 2019;30:877-889.
  13. Lewis JD, Caldara AL, Zimmer SE, Stahley SN, Seybold A, Strong NL, Frangakis AS, Levental I, Wahl JK 3rd, Mattheyses AL, Sasaki T, Nakabayashi K, Hata K, Matsubara Y, Ishida-Yamamoto A, Amagai M, Kubo A, Kowalczyk AP : The desmosome is a mesoscale lipid raft-like membrane domain. Mol Biol Cell. 2019;30:1390-1405.
  14. Sato T, Migita O, Hata H, Okamoto A, Hata K : Analysis of Chromosome Microstructures in Products of Conception Associated with Recurrent Miscarriage. Reprod Biomed Online. 2019;38:787-795.
  15. Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N : Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. J Hum Genet. 2019;64:313-322.
  16. Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M : Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2019;56:413-418.
  17. Kasuga Y, Miyakoshi K, Tajima A, Saisho Y, Ikenoue S, Ochiai D, Matsumoto T, Arata N, Hata K, Tanaka M : Clinical and Genetic Characteristics of Abnormal Glucose Tolerance in Japanese Women in the First Year after Gestational Diabetes Mellitus. J Diabetes Investig. 2019;10:817-826.
  18. Ikeda J, Shiba N, Tsujimoto SI, Yoshida M, Nakabayashi K,Ogata-Kawata H, Okamura K, Takeuchi M, Osumi T, Tomizawa D, Hata K, Kiyokawa N, Ito S, Kato M : Whole transcriptome sequencing reveals a KMT2A-USP2 fusion in infant acute myeloid leukemia. Genes Chromosomes Cancer. 2019;58:669-672.
  19. Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T : Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR. Clin Epigenetics. 2019;11:42.
  20. Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M : Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions. Clin Epigenetics. 2019;11:36.
  21. Kurokami T, Koeda T, Migita O, Hata K : Reading disability due to an ocular motor disorder: A case of an adolescent girl with a previous diagnosis of dyslexia. Brain Dev. 2019;41:187-190.
  22. Ohki K, Kiyokawa N, Saito Y, Hirabayashi S, Nakabayashi K, Ichikawa H, Momozawa Y, Okamura K, Yoshimi A, Ogata-Kawata H, Sakamoto H, Kato M, Fukushima K, Hasegawa D, Fukushima H, Imai M, Kajiwara R, Koike T, Komori I, Matsui A, Mori M, Moriwaki K, Noguchi Y, Park MJ, Ueda T, Yamamoto S, Matsuda K, Yoshida T, Matsumoto K, Hata K, Kubo M, Matsubara Y, Takahashi H, Fukushima T, Hayashi Y, Koh K, Manabe A, Ohara A : Clinical and molecular characteristics of MEF2D fusion-positive precursor B-cell acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion. Haematologica. 2019;104:128-137.
  23. Nakazawa S, Niizeki H, Nakabayashi K, Tanese K, Tokura Y : Congenital nail clubbing. J Dermatol. 2019;46:e101-e102.
  24. Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K : Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. Eur J Med Genet. 2019;62:103547.
  25. Sato T, Samura O, Matsuoka T, Yoshida M, Aoki H, Migita O, Okamoto A, Hata K : Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests. Eur J Med Genet. 2019;62:103533.

2018

  1. Kabata R, Okuda H, Noguchi A, Kondo D, Fujiwara M, Hata K, Kato Y, Ishikawa K, Tanaka M, Sekine Y, Hishikawa N, Mizukami T, Ito J, Akasaka M, Sakurai K, Yoshida T, Minoura H, Hayashi T, Inoshita K, Matsuyama M, Kinjo N, Cao Y, Inoue S, Kobayashi H, Harada KH, Youssefian S, Takahashi T, Koizumi A : Familial episodic limb pain in kindreds with novel Nav1.9 mutations. PLoS One. 2018;13:e0208516.
  2. Katoh N, Kuroda K, Tomikawa J, Ogata-Kawata H, Ozaki R, Ochiai A, Kitade M, Takeda S, Nakabayashi K, Hata K : Reciprocal changes of H3K27ac and H3K27me3 at the promoter regions of the critical genes for endometrial decidualization. Epigenomics. 2018;10:1243-1257.
  3. Hernandez Mora JR, Tayama C, Sánchez-Delgado M, Monteagudo-Sánchez A, Hata K, Ogata T, Medrano J, Poo-Llanillo ME, Simón C, Moran S, Esteller M, Tenorio J, Lapunzina P, Kagami M, Monk D, Nakabayashi K : Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform. Epigenomics. 2018;10:941-954.
  4. Okumura A, Maruyama K, Shibata M, Kurahashi H, Ishii A, Numoto S, Hirose S, Kawai T, Iso M, Kataoka S, Okuno Y, Muramatsu H, Kojima S : A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features. Brain Dev. 2018;40:926-930.
  5. Osumi T, Tsujimoto SI, Tamura M, Uchiyama M, Nakabayashi K, Okamura K, Yoshida M, Tomizawa D, Watanabe A, Takahashi H, Hori T, Yamamoto S, Hamamoto K, Migita M, Ogata-Kawata H, Uchiyama T, Kizawa H, Ueno-Yokohata H, Shirai R, Seki M, Ohki K, Takita J, Inukai T, Ogawa S, Kitamura T, Matsumoto K, Hata K, KIyokawa N, Goyama S, Kato M : Recurrent RARB Translocations in Acute Promyelocytic Leukemia lacking RARA Translocation. Cancer Res. 2018;78:4452-4458.
  6. Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, Matsubara Y, Makita Y : Genitopatellar syndrome: the first reported case in Japan. Hum Genome Var. 2018;5:8.
  7. Sato T, Samura O, Kato N, Taniguchi K,Takahashi K, Ito Y, Aoki H, Kobayashi M, Migita O, Okamoto A, Hata K : Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome. Hum Genome Var. 2018;5:5.
  8. Usui H, Nakabayashi K, Kaku H, Maehara K, Hata K, Shozu M : Elucidation of the developmental mechanism of ovarian mature cystic teratomas using B allele-frequency plots of single nucleotide polymorphism array data. Genes Chromosomes Cancer. 2018;57:409-419.
  9. Matsushita J, Okamura K, Nakabayashi K, Suzuki T, Horibe Y, Kawai T, Sakurai T, Yamashita S, Higami Y, Ichihara G, Hata K , Nohara K : The DNA methylation profile of liver tumors in C3H mice and identification of differentially methylated regions involved in the regulation of tumorigenic genes. BMC Cancer. 2018;18:317.
  10. Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M : A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. J Med Genet. 2018;55:567-570.
  11. Yoshida W, Saikyo H, Nakabayashi K, Yoshioka H, Bay DH, Iida K, Kawai T, Hata K, Ikebukuro K, Nagasawa K, Karube I : Identification of G-quadruplex clusters by high-throughput sequencing of whole-genome amplified products with a G-quadruplex ligand. Sci Rep. 2018;8:3116.
  12. Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N : Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Hum Mol Genet. 2018;27:1421-1433.
  13. Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo Y, Yanagi K, Nakabayashi K, Fukami M, Fujisawa Y, Ogata T : Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. Sci Rep. 2018;8:2287.
  14. Miyashita N, Onozawa M, Hayasaka K, Yamada T, Migita O, Hata K, Okada K, Goto H, Nakagawa M, Hashimoto D, Kahata K, Kondo T, Kunishima S, Teshima T : A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction. Ann Hematol. 2018;97:629-640.
  15. Osumi T, Tsujimoto SI, Nakabayashi K, Taniguchi M, Shirai R, Yoshida M, Uchiyama T, Nagasawa J, Goyama S, Yoshioka T, Tomizawa D, Kurokawa M, Matsubara Y, Kiyokawa N, Matsumoto K, Hata K, Kato M : Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality. Pediatr Blood Cancer. 2018;65:e26959.
  16. Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H : De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. Hum Genet. 2018;137:95-104.
  17. Isobe T, Seki M, Yoshida K, Sekiguchi M, Shiozawa Y, Shiraishi Y, Kimura S, Yoshida M, Inoue Y, Yokoyama A, Kakiuchi N, Suzuki H, Kataoka K, Sato Y, Kawai T, Chiba K, Tanaka H, Shimamura T, Kato M, Iguchi A, Hama A, Taguchi T, Akiyama M, Fujimura J, Inoue A, Ito T, Deguchi T, Kiyotani C, Iehara T, Hosoi H, Oka A, Sanada M, Tanaka Y, Hata K, Miyano S, Ogawa S, Takita J : Integrated molecular characterization of the lethal pediatric cancer pancreatoblastoma. Cancer Res. 2018;78:865-876.
  18. Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S : Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. Brain Dev. 2018;40:134-139.
  19. Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. : Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes. 2018;19:243-250.

2017

  1. Urushiyama D, Suda W, Ohnishi E, Araki R, Kiyoshima C, Kurakazu M, Sanui A, Yotsumoto F, Murata M, Nabeshima K, Yasunaga S, Saito S, Nomiyama M, Hattori M, Miyamoto S, Hata K : Microbiome profile of the amniotic fluid as a predictive biomarker of perinatal outcome. Sci Rep. 2017;7:12171.
  2. Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S : CTCF deletion syndrome: clinical features and epigenetic delineation. J Med Genet. 2017;54:836-842.
  3. Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M : Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature. Endocr J. 2017;64:947-954.
  4. Murakami M, Yoshimoto T, Nakabayashi K, Nakano Y, Fukaishi T, Tsuchiya K, Minami I, Bouchi R, Okamura K, Fujii Y, Hashimoto K, Hata K, Kihara K, Ogawa Y : Molecular characteristics of the KCNJ5 mutated aldosterone-producing adenomas. Endocr Relat Cancer. 2017;24:531-541.
  5. Nishi K, Luo H, Nakabayashi K, Doi K, Ishikura S, Iwaihara Y, Yoshida Y, Tanisawa K, Arai T, Mori S, Sawabe M, Muramatsu M, Tanaka M, Sakata T, Shirasawa S, Tsunoda T : An Alpha-kinase 2 Gene Variant Disrupts Filamentous Actin Localization in the Surface Cells of Colorectal Cancer Spheroids. Anticancer Res. 2017;37:3855-3862.
  6. Sasaki K, Abe K, Mori T, Hashimoto K, Nakabayashi K : Salvage of fetal karyotype information from SNP array data obtained from products of conception with maternal cell contamination. Prenat Diagn. 2017 ;37:781-787.
  7. Takauji Y, Kudo I, En A, Matsuo R, Hossain MN, Nakabayashi K, Miki K, Fujii M, Ayusawa D : GNG11 (G-protein subunit γ 11) suppresses cell growth with induction of reactive oxygen species and abnormal nuclear morphology in human SUSM-1 cells. Biochem Cell Biol. 2017;95:517-523.
  8. Chorazy S, Kumar K, Nakabayashi K, Sieklucka B, Ohkoshi SI : Fine Tuning of Multicolored Photoluminescence in Crystalline Magnetic Materials Constructed of Trimetallic EuxTb1-x[Co(CN)6] Cyanido-Bridged Chains. Inorg Chem. 2017;56:5239-5252.
  9. Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M, Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T : Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty. J Cell Mol Med. 2017;21:2623-2626.
  10. Komiya C, Tanaka M, Tsuchiya K, Shimazu N, Mori K, Furuke S, Miyachi Y, Shiba K, Yamaguchi S, Ikeda K, Ochi K, Nakabayashi K, Hata K, Itoh M, Suganami T, Ogawa Y : Antifibrotic effect of pirfenidone in a mouse model of human nonalcoholic steatohepatitis. Sci Rep. 2017;7:44754.
  11. Honda A, Umegaki-Arao N, Sasaki T, Nakabayashi K, Hata K, Matsubara Y, Tanikawa A, Amagai M, Kubo A : Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. J Dermatol. 2017;44:e109-e110.
  12. Kasuga Y, Hata K, Tajima A, Ochiai D, Saisho Y, Matsumoto T, Arata N, Miyakoshi K, Tanaka M : Association of common polymorphisms with gestational diabetes mellitus in Japanese women: A case-control study. Endocr J. 2017;64:463-475.
  13. Tanese K, Niizeki H, Seki A, Nakabayashi K, Nakazawa S, Tokura Y, Kawashima Y, Kubo A, Ishiko A : Infiltration of mast cells in pachydermia of pachydermoperiostosis. J Dermatol. 2017;44:1320-1321.
  14. Sakaki M, Ebihara Y, Okamura K, Nakabayashi K, Igarashi A, Matsumoto K, Hata K, Kobayashi Y, Maehara K : Potential roles of DNA methylation in the initiation and establishment of replicative senescence revealed by array-based methylome and transcriptome analyses. PLoS One. 2017;12:e0171431.
  15. Nakazawa S, Mori T, Niizeki H, Nakabayashi K, Tokura Y : Complete type of pachydermoperiostosis with a novel mutation c.510G>A of the SLCO2A1 gene. J Dermatol. 2017;44:1411-1412.
  16. Lee J, Yoshida W, Abe K, Nakabayashi K, Wakeda H, Hata K, Marquette CA, Blum LJ, Sode K, Ikebukuro K : Development of an electrochemical detection system for measuring DNA methylation levels using methyl CpG-binding protein and glucose dehydrogenase-fused zinc finger protein. Biosens Bioelectron. 2017;93:118-123.
  17. Hirabayashi S, Ohki K, Nakabayashi K, Ichikawa H, Momozawa Y, Okamura K, Yaguchi A, Terada K, Saito Y, Yoshimi A, Ogata-Kawata H, Sakamoto H, Kato M, Fujimura J, Hino M, Kinoshita A, Kakuda H, Kurosawa H, Kato K, Kajiwara R, Moriwaki K, Morimoto T, Nakamura K, Noguchi Y, Osumi T, Sakashita K, Takita J, Yuza Y, Matsuda K, Yoshida T, Matsumoto K, Hata K, Kubo M, Matsubara Y, Fukushima T, Koh K, Manabe A, Ohara A, Kiyokawa N : ZNF384-related fusion genes consist of a subgroup with a characteristic immunophenotype in childhood B-cell precursor acute lymphoblastic leukemia. Haematologica. 2017;102:118-129.
  18. Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, Fukami M : Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum Mutat. 2017;38:39-42.
  19. Liao H, Sato H, Chiba R, Kawai T, Nakabayashi K, Hata K, Akutsu H, Fujiwara S, Nakamura H : Human cytomegalovirus downregulates SLITRK6 expression through IE2. J Neurovirol. 2017;23:79-86.
  20. Okuno H, Nakabayashi K, Abe K, Ando T, Sanosaka T, Kohyama J, Akamatsu W, Ohyama M, Takahashi T, Kosaki K, Okano H : Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome. Congenit Anom (Kyoto). 2017;57:96-103.
  21. Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S, Watanabe N, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Ogata T, Fukami M, Sugihara S : Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. J Diabetes Investig. 2017;8:286-294.
  22. Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, Ogata T : Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. Genet Med. 2017;19:476-482.

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