国立研究開発法人 国立成育医療研究センター National Center for Child Health and Development

代表: 03-3416-0181 / 予約センター(病院): 03-5494-7300
〈月~金曜日(祝祭日を除く)9時〜17時〉

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研究者・企業の方へ Scholar & Enterprise

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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

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

  • 谷口 公介(研究員)
  • 田山 千春(研究員)
  • 石渡 啓介
  • 伊東 紀子
  • 大科 恭子
  • 大西 英理子
  • 岡﨑 有香
  • 緒方 広子
  • 加藤 友花
  • 嘉村 浩美
  • 川崎 範子
  • 木下 史織
  • 京戸 玲子
  • 髙山 有香
  • 長谷川 慶太
  • 堀 あすか
  • 右田 王介
  • 山村 倫啓

業績

2020

  1. 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 Jun 11. doi: 10.1097/MCD.0000000000000330. Online ahead of print.
  2. 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.
  3. 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 May 13. doi: 10.1111/ijd.14883. Online ahead of print. PMID: 32406058. No abstract available.
  4. 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.
  5. 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. 2020 Jun 23;jmedgenet-2020-107019. doi: 10.1136/jmedgenet-2020-107019. Online ahead of print.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. Tanaka K, Nakabayashi K, Kawai T, Tanigaki S, Matsumoto K, Hata K, Kobayashi Y : 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.
  13. 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.
  14. 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 Jun 12:108495. doi: 10.1016/j.clim.2020.108495. Online ahead of print. PMID: 32540394.
  15. 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.
  16. 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;e1382.132.
  17. 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.
  18. 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.

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, Katoh 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.

2016

  1. Akutsu H, Nasu M, Morinaga S, Motoyama T, Homma N, Machida M, Yamazaki-Inoue M, Okamura K, Nakabayashi K, Takada S, Nakamura N, Kanzaki S, Hata K, Umezawa A : In vivo maturation of human embryonic stem cell-derived teratoma over time. Regenerative Therapy, 2016;5:31-39.
  2. Sanchez-Delgado M, Court F, Vidal E, Medrano J, Monteagudo-Sánchez A, Martin-Trujillo A, Tayama C, Iglesias-Platas I, Kondova I, Bontrop R, Poo-Llanillo ME, Marques-Bonet T, Nakabayashi K, Simón C, Monk D : Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting. PLoS Genet. 2016;12:e1006427.
  3. Kitade S, Onoyama I, Kobayashi H, Yagi H, Yoshida S, Kato M, Tsunematsu R, Asanoma K, Sonoda K, Wake N, Hata K, Nakayama KI, Kato K : FBXW7 is involved in the acquisition of the malignant phenotype in epithelial ovarian tumors. Cancer Sci. 2016;107:1399-1405.
  4. Ishikura S, Tsunoda T, Nakabayashi K, Doi K, Koyanagi M, Hayashi K, Kawai T, Tanaka Y, Iwaihara Y, Luo H, Nishi K, Okamura T, Shirasawa S : Molecular mechanisms of transcriptional regulation by the nuclear zinc-finger protein Zfat in T cells. Biochim Biophys Acta. 2016;1859:1398-1410.
  5. Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M : NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. Sex Dev. 2016;10:205-209.
  6. Morita S, Noguchi H, Horii T, Nakabayashi K, Kimura M, Okamura K, Sakai A, Nakashima H, Hata K, Nakashima K, Hatada I : Targeted DNA demethylation in vivo using dCas9-peptide repeat and scFv-TET1 catalytic domain fusions. Nat Biotechnol. 2016;34:1060-1065.
  7. Shimizu H, Arai K, Abe J, Nakabayashi K, Yoshioka T, Hosoi K, Kuroda M : Repeated fecal microbiota transplantation in a child with ulcerative colitis. Pediatr Int. 2016;58:781-785.
  8. Murakami M, Yoshimoto T, Nakano Y, Tsuchiya K, Minami I, Bouchi R, Fujii Y, Nakabayashi K, Hashimoto K, Hata K, Kihara K, Ogawa Y : Expression of inflammation-related genes in aldosterone-producing adenomas with KCNJ5 mutation. Biochem Biophys Res Commun. 2016;476:614-619.
  9. Okamura K, Sakaguchi H, Sakamoto-Abutani R, Nakanishi M, Nishimura K, Yamazaki-Inoue M, Ohtaka M, Periasamy VS, Alshatwi AA, Higuchi A, Hanaoka K, Nakabayashi K, Takada S, Hata K, Toyoda M, Umezawa A : Distinctive features of single nucleotide alterations in induced pluripotent stem cells with different types of DNA repair deficiency disorders. Sci Rep. 2016;6:26342.
  10. Sano S, Matsubara K, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, Ogata T : Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? J Hum Genet. 2016;61:765-769.
  11. Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F : Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet. 2016;61:547-553.
  12. Rumbajan JM, Yamaguchi Y, Nakabayashi K, Higashimoto K, Yatsuki H, Nishioka K, Matsuoka K, Aoki S, Toda S, Takeda S, Seki H, Hatada I, Hata K, Soejima H, Joh K : The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants. Gene. 2016;583:141-146.
  13. Morita S, Nakabayashi K, Kawai T, Hayashi K, Horii T, Kimura M, Kamei Y, Ogawa Y, Hata K, Hatada I : Gene expression profiling of white adipose tissue reveals paternal transmission of proneness to obesity. Sci Rep. 2016;6:21693.
  14. Masuda A, Katoh N, Nakabayashi K, Kato K, Sonoda K, Kitade M, Takeda S, Hata K, Tomikawa J : An improved method for isolation of epithelial and stromal cells from the human endometrium. J Reprod Dev. 2016;62:213-218.
  15. Yoneda N, Yoneda S, Niimi H, Ueno T, Hayashi S, Ito M, Shiozaki A, Urushiyama D, Hata K, Suda W, Hattori M, Kigawa M, Kitajima I, Saito S : Polymicrobial Amniotic Fluid Infection with Mycoplasma/Ureaplasma and Other Bacteria Induces Severe Intra-Amniotic Inflammation Associated with Poor Perinatal Prognosis in Preterm Labor. Am J Reprod Immunol. 2016;75:112-125.
  16. Ito Y, Maehara K, Kaneki E, Matsuoka K, Sugahara N,Miyata T, Kamura H, Yamaguchi Y, Kono A, Nakabayashi K, Migita O, Higashimoto K, Soejima H, Okamoto A, Nakamura H, Kimura T, Wake N, Taniguchi T, Hata K : Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole. Gynecol Obstet Invest. 2016;81;353-358.
  17. Maupetit-Méhouas S, Montibus B, Nury D, Tayama C, Wassef M, Kota SK, Fogli A, Cerqueira Campos F, Hata K, Feil R, Magueron R, Nakabayashi K, Court F, Arnaud P : Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive. Nucleic Acids Res. 2016;44:621-635.
  18. Nohara K, Okamura K, Suzuki T, Murai H, Ito T, Shinjo K, Takumi S, Michikawa T, Kondo Y, Hata K : Augmenting effects of gestational arsenite exposure of C3H mice on the hepatic tumors of the F2 male offspring via the F1 male offspring. J Appl Toxicol. 2016;36:105-112.
  19. Hayashi K, Kawai YL, Yura K, Yoshida MA, Ogura A, Hata K, Nakabayashi K, Okamura K : Complete genome sequence of the mitochondrial DNA of the sparkling enope squid, Watasenia scintillans. Mitochondrial DNA. 2016;27:1842-1843.

2015

  1. Okamura K, Kawai T, Hata K, Nakabayashi K : Lists of HumanMethylation450 BeadChip probes with nucleotide-variant information obtained from the Phase 3 data of the 1000 Genomes Project. Genom Data. 2015;7:67-69.
  2. Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M : Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9. Mol Genet Genomic Med. 2015;3:550-557.
  3. Okamura K, Toyoda M, Hata K, Nakabayashi K, and Umezawa A : Whole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum. Genom Data. 2015;6:4-6.
  4. Sanchez-Delgado M, Martin-Trujillo A, Tayama C, Vidal E, Esteller M, Iglesias-Platas I, Deo N, Barney O, Maclean K, Hata K, Nakabayashi K, Fisher R, Monk D : Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting. PLoS Genet. 2015;11:e1005644 .
  5. Ichida Y, Utsunomiya Y, Yasuda T, Nakabayashi K, Sato T, Onodera M : Functional Domains of ZFP809 Essential for Nuclear Localization and Gene Silencing. PLoS One. 2015;10:e0139274.
  6. Matsuzaki H, Okamura E, Takahashi T, Ushiki A, Nakamura T, Nakano T, Hata K, Fukamizu A, Tanimoto K : De novo DNA methylation through 5'-segment of the H19 ICR maintains its imprint during early embryogenesis. Development. 2015;142:3833-3844.
  7. Kawai T, Yamada T, Abe K, Okamura K, Kamura H, Akaishi R, Minakami H, Nakabayashi K, Hata K : Increased epigenetic alterations at the promoters of transcriptional regulators following inadequate maternal gestational weight gain. Sci Rep. 2015;5:14224.
  8. Yano M, Imamura T, Asai D, Kiyokawa N, Nakabayashi K, Matsumoto K, Deguchi T, Hashii Y, Honda YK, Hasegawa D, Sasahara Y, Ishii M, Kosaka Y, Kato K, Shima M, Hori H, Yumura-Yagi K, Hara J, Oda M, Horibe K, Ichikawa H, Sato A : Identification of novel kinase fusion transcripts in paediatric B cell precursor acute lymphoblastic leukaemia with IKZF1 deletion. Br J Haematol. 2015;171:813-817.
  9. Kojima T, Yamada T, Akaishi R, Furuta I, Saitoh T, Nakabayashi K, Nakayama KI, Nakayama K, Akira S, Minakami H : Role of the Atg9a gene in intrauterine growth and survival of fetal mice. Reprod Biol. 2015;15:131-138.
  10. Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K : Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay. Am J Med Genet A. 2015;167:2822-2825.
  11. Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K : Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. Clin Epigenetics. 2015;7:90.
  12. Ichida Y, Utsunomiya Y, Tomikawa J, Nakabayashi K, Sato T, Onodera M : Long time-course monitoring of ZFP809-mediated gene silencing in transgene expression driven by promoters containing MLV-derived PBS. Biosci Biotechnol Biochem. 2015;80:114-120.
  13. Chinen Y, Kaneshi T, Kamiya T, Hata K, Nishimura G, Kaname T : Progressive hip joint subluxation in Saul-Wilson syndrome. Am J Med Genet A. 2015;167:2834-2838.
  14. Yoshida W, Tomikawa J, Inaki M, Kimura H, Onodera M, Hata K , Nakabayashi K : An Insulator Element Located at the Cyclin B1 Interacting Protein 1 Gene Locus Is Highly Conserved among Mammalian Species. PLoS One. 2015;10:e0131204.
  15. Minakawa S, Kaneko T, Niizeki H, Mizukami H, Saito Y, Nigawara T, Kurose R, Nakabayashi K, Kabashima K, Sawamura D : Case of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations. J Dermatol. 2015;42:908-910.
  16. Murakami M, Yoshimoto T, Nakabayashi K, Tsuchiya K, Minami I, Bouchi R, Izumiyama H, Fujii Y, Abe K, Tayama C, Hashimoto K, Suganami T, Hata K, Kihara K, Ogawa Y : Integration of Transcriptome and Methylome Analysis of Aldosterone-producing Adenomas. Eur J Endocrinol. 2015;173:185-195.
  17. Tochio N, Umehara T, Nakabayashi K, Yoneyama M, Tsuda K, Shirouzu M, Koshiba S, Watanabe S, Kigawa T, Sasazuki T, Shirasawa S, Yokoyama S : Solution structures of the DNA-binding domains of immune-related zinc-finger protein ZFAT. J Struct Funct Genomics. 2015;16:55-65.
  18. Nakamura K, Nakabayashi K, Htet Aung K, Aizawa K, Hori N, Yamauchi J, Hata K, Tanoue A : DNA Methyltransferase Inhibitor Zebularine Induces Human Cholangiocarcinoma Cell Death through Alteration of DNA Methylation Status. PLoS One. 2015;10:e0120545.
  19. Nakazawa S, Niizeki H, Matsuda M, Nakabayashi K, Seki A, Mori T, Tokura Y : Involvement of prostaglandin E2 in the first Japanese case of pachydermoperiostosis with HPGD mutation and recalcitrant leg ulcer. J Dermatol Sci. 2015;78:153-155.
  20. Takenouchi T, Sakamoto Y, Torii C, Hata K, Kosaki R, Kosaki K : Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation. Am J Med Genet A. 2015;167:907-909.
  21. Takimoto T, Takada H, Ishimura M, Kirino M, Hata K, Ohara O, Morio T, Hara T : Wiskott-Aldrich Syndrome in a Girl Caused by Heterozygous WASP Mutation and Extremely Skewed X-Chromosome Inactivation: A Novel Association with Maternal Uniparental Isodisomy 6. Neonatology. 2015;107:185-190.
  22. Okuno M, Ogata T, Nakabayashi K, Urakami T, Fukami M, Nagasaki K : Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp. Hum Genome Var. 2015;2:15020.
  23. Miyata T, Sonoda K, Tomikawa J, Tayama C, Okamura K,Maehara K, Kobayashi H, Wake N, Kato K, Hata K, Nakabayashi K : Genomic, epigenomic, and transcriptomic profiling towards identifying omics features and specific biomarkers that distinguish uterine leiomyosarcoma and leiomyoma at molecular levels. Sarcoma. 2015;2015:412068.
  24. Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K : Paramagnetic Signals in the Globus Pallidus as Late Radiographic Sign of Juvenile-Onset GM1 Gangliosidosis. Pediatr Neurol. 2015;52:226-229.
  25. Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T : Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype. Eur J Hum Genet. 2015;23:1062-1067.
  26. Miyata K, Miyata T, Nakabayashi K, Okamura K, Naito M, Kawai T, Takada S, Kato K, Miyamoto S, Hata K, Asahara H : DNA methylation analysis of human myoblasts during in vitro myogenic differentiation: de novo methylation of promoters of muscle-related genes and its involvement in transcriptional down-regulation. Hum Mol Genet. 2015;24:410-423.
  27. Kawai YL, Yura K, Shindo M, Kusakabe R, Hayashi K, Hata K, Nakabayashi K, Okamura K : Complete genome sequence of the mitochondrial DNA of the river lamprey, Lethenteron japonicum. Mitochondrial DNA. 2015;26:863-864.
  28. Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M : Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. Hum Reprod. 2015;30:499-506.