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    1. Zhu, B., Ueda, A., Song, X., Horike, S., Yokota, T., Akagi, T.(2017) “Baf53a is involved in survival of mouse ES cells, which can be compensated by Baf53b.” Scientific Reports, 7(1):14059. doi: 10.1038/s41598-017-14362-4.
    2. PMID:29070872
    3. Lopez, S.J., Dunaway, K., Islam, M.S., Mordaunt, C., Ciernia, A.V., Meguro-Horike, M., Horike, S.I., Segal, D.J., LaSalle, J.(2017) “UBE3A-mediated regulation of imprinted genes and epigenome-wide marks in human neurons.” Epigenetics, doi: 10.1080/15592294.2017.1376151.
    4. PMID:28925810
    5. Kometani, M., Yoneda, T., Demura, M., Koide, H., Nishimoto, K., Mukai, K., Gomez-Sanchez, C.E., Akagi, T., Yokota, T., Horike, S.I., Karashima, S., Miyamori, I., Yamagishi, M., Takeda, Y. (2017) “Cortisol overproduction results from DNA methylation of CYP11B1 in hypercortisolemia.” Scientific Reports, 7(1):11205.
    6. PMID:28894201
    7. Hanai, S., Sukigara, S., Dai, H., Owa, T., Horike, S., Otsuki, T., Saito, T., Nakagawa, E., Ikegaya, N., Kaido, T., Sato, N., Takahashi, A., Sugai, K., Saito, Y., Sasaki, M., Hoshino, M., Goto, Y., Koizumi, S., Itoh, M.(2017) “Pathological active mTOR mutation in brain malformation with intractable epilepsy leads to cell-autonomous migration delay” The American Journal of Pathology, 187(5):1177-1185.
    8. PMID:28427592
    9. Dunaway, K., Islam, S., Coulson, J., Lopez, R., Ciernia, A.V., Chu, R., Yasui, D., Pessah, I., Lott, P., Mordaunt, C., Meguro-Horike, M., Horike, S., Korf, I., LaSalle, J.M. (2016) “Cumulative impact of large chromosomal duplications and polychlorinated biphenyl exposure on DNA methylation, chromatin, and expression of autism candidate gene” Cell Reports 17(11):3035-3048.
    10. PMID:27974215
    11. Murakami, K., Nakamura, Y., Felizola, S.J., Morimoto, R., Satoh, F., Takanami, K., Katakami, H., Hirota, S., Takeda, Y., Meguro-Horike, M., Horike, S., Unno, M., Sasano, H. (2016) “Pancreatic solitary fibrous tumor causing ectopic adrenocorticotropic hormone syndrome” Mol. Cell Endocrinol. 436:268-273.
    12. PMID:27585487
    13. Munesue,T., Nakamura,H., Kikuchi,M., Miura,Y., Takeuchi,N., Anme,T., Nanba, E., Adachi,K., Tsubouchi,K., Sai,Y., Miyamoto,K., Horike,S., Yokoyama,S., Nakatani,H., Niida,Y., Kosaka,H., Minabe,Y., Higashida,H.(2016) “Oxytocin for Male Subjects with Autism Spectrum Disorder and Comorbid Intellectual Disabilities: A Randomized Pilot Study.” Front. Psychiatry, Jan 21;7:2. doi:10.3389/fpsyt.2016.00002.
    14. PMID:26834651
    15. Guo,L., Yamashita,H., Kou,I., Takimoto,A., Meguro-Horike,M., Horike,S., Sakuma,T., Miura,S., Adachi,T., Yamamoto,T., Ikegawa,S., Hiraki,Y., Shukunami,C.(2016) “Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation.” PLoS Genet., Jan 28;12(1):e1005802. doi:10.1371/journal.pgen.1005802.
    16. PMID:26820155
    17. Meguro-Horike, M.,Horike, S. (2015) “MMCT-mediated chromosome engineering technique applicable to functional analysis of lncRNA and nuclear dynamics.” Methods Mol. Biol.,1262, 277-289. Corresponding Author
    18. PMID:25555588
    19. Nagai, M., Meguro-Horike, M.,Horike, S. (2012) “Epigenetic defects related to assisted reproductive technologies: Large offspring syndrome (LOS)” DNA Methylation–Genomic Technologies and Impact, 167-182. Corresponding Author
    20. DOI:10.5772/34102
    21. Yasui, D.H., Scoles, H.A., Horike, S., Meguro-Horike, M., Dunaway, K.W., Schroeder, D.I., LaSalle, J.M. (2011) “15q11-13 chromatin organization reveals epigenetic regulation of CHRNA7 and deficiencies in Rett and autism brain” Human Molecular Genetics, 20, 4311-4323.
    22. PMID:21840925
    23. Meguro-Horike, M., Yasui, D.H., Powell, W., Schroeder, D.I., Oshimura, M., LaSalle, J.M., Horike, S. (2011) “Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome” Human Molecular Genetics, 20, 3798-3810. Corresponding Author
    24. PMID:21725066
    25. Hori, N., Nagai, M., Hirayama, M., Hirai, T., Matsuda, K., Hayashi, M., Tanaka, T., Ozawa, T., Horike, S. (2010) “Aberrant CpG Methylation of the Imprinting Control Region KvDMR1 Detected in Assisted Reproductive Technology-Produced Calves and Pathogenesis of Large Offspring Syndrome.” Animal Reproduction Science, 122, 303-312. Corresponding Author
    26. PMID:21035970
    27. Abe, S., Tanaka, H., Notsu, T., Horike, S., Fujisaki, C., Qi, D-L., Ohhira, T., Gilley D., Oshimura, M., Kugoh, H. (2010) “Localization of an hTERT repressor region on human chromosome 3p21.3 using chromosome engineering.” Genome Integrity, 1, 6.
    28. PMID:20678252
    29. Horike, S., Ferreira.J.C.P., Meguro-Horike, M., Choufani.S., Smith, A.C., Shuman, C., Meschino, W., Zackai, E., Scherer, S.W., Weksberg, R. (2009) “Russell-Silver-like Syndromes: Complex epigenetic abnormalities are not detected by targeted methylation analysis.” American Journal of Medical Genetics, 149A, 2415-2423.
    30. PMID:19876907
    31. Miyano, M., Horike, S., Cai, S., Oshimura, M., Kohwi-Shigematsu, T. (2008) “DLX5 Expression is Monoallelic and Dlx5 is Upregulated in the Mecp2-null Frontal Cortex.” J. Cellular and Molecular Medicine, 12, 1188-1191.
    32. PMID:18537997
    33. Vincent, J.B., Choufani, S., Horike, S., Stachowiak, B., Li, M., Dill, F.J., Marshall, C., Hrynchak, M., Carew, E., Friedman, J.M., Srivistava, A.K., Scherer, S.W. (2008) “A translocation t(6;7)(p12;q22) Associated with Autism and Mental Retardation: Localization, and Identification of candidate genes at the breakpoints.” Psychiatric Genetics, 18, 101-109.
    34. PMID:18496206
    35. *Vincent, J.B., *Horike, S., Choufani, S., Paterson, A.D., Roberts, W., Szatmari, P., Weksberg, R., Fernandez, B., Scherer, S.W. (2006) “An inversion inv(4) (p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.” J. Medical Genetics, 43, 429-434. *These authors contributed equally to this work.
    36. PMID:16556609
    37. Horike, S., Cai, S., Miyano, M., Cheng, J.F., Kohwi-Shigematsu.T. (2005) “Loss of Silent Chromatin-Specific Looping and Impaired Imprinting of DLX5 in Rett Syndrome.” Nature Genetics, 37, 31-40.
    38. PMID:15608638
    39. Katoh, M., Ayabe, F., Norikane, S., Okada, T., Masumoto, H., Horike, S., Shirayoshi, Y., Oshimura, M. (2004) “Construction of a novel human artificial chromosome vector for gene delivery.” Biochem. Biophys. Res. Commun., 321, 280-290.
    40. PMID:15358173
    41. Horike, S., Mitsuya, K., Meguro, M., Kotobuki, N., Kashiwagi, A., Notsu, T., Schulz, T.C., Shirayosi, Y., Oshimura, M. (2000) “Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome.” Human Molecular Genetics, 9, 2075-2083.
    42. PMID:10958646
    43. Sugimori, T., Horike, S., Tumura, S., Handa, M., Kasuga, K. (1998) “Catalytic oxygenation of olefin with dioxygen and tetra-t-butylphthalocyanine complexes in the presence of sodium borohydride.” Inorganica Chimica Acta, 283, 275-278.
    44. Sugimori, T., Horike, S., Handa, M., Kasuga, K. (1998) “Preparation and some properties of perfluoroalkoxy-substituted phthalocyanine complexes of iron (III), nickel (II) and zinc (II).” Inorganica Chimica Acta, 278, 253-255.
    • 和文総説
      1. 堀家慎一,目黒牧子「自閉症罹患遺伝子座の動的クロマチンダイナミクス」細胞,49巻8号,35-36.(2017)2017年7月20日発行
      2. 目黒牧子, 堀家慎一「lncRNAによるエピジェネティック制御の作用機序」DOJIN BIOSCIENCE SRIES 25ノンコーディングRNA, 化学同人, 233-244, 2016年7月15日発行
      3. 目黒牧子,堀家慎一「インプリントlncRNAによる染色体ドメインレベルの遺伝子発現制御」実験医学増刊号「ノンコーディングRNAテキストブック」,2015年12月10日発行
      4. 目黒牧子,堀家慎一「発達障害の遺伝学から明らかとなる多彩なエピジェネティクスの役割」エピジェネティクスの産業応用,シーエムシー出版,239-247,2014年4月30日発行
      5. 東田陽博,堀家慎一,小泉恵太,吉原享「自閉症分子マーカー探索—自閉症の遺伝子・分子生物・実験動物学的研究」医学のあゆみ,231巻10号,1072-1078,2009年12月5日発行
      6. 堀家慎一「神経疾患における高次クロマチンループ構造の破綻 Rett症候群の発症機序の解明」蛋白質核酸酵素,50巻8号,978-984. PMID:16001803
      7. 堀家慎一「Rett症候群の発症機構〜MeCP2標的遺伝子DLX5の単離とそのメカニズム」実験医学,23巻5号,730-733.
      8. 堀家慎一「メチル化CpG結合タンパク質MeCP2のクロマチンループ構造の形成」細胞工学,24巻3号,2005年3月発行
      9. 堀家慎一,Terumi Kohwi-Shigematsu「クロマチンループを介した新しい遺伝子発現制御機構」実験医学,21巻11号,1485-1492.(2003)
      10. 堀家慎一,野津智美,押村光雄「微小核細胞融合法を利用した染色体工学」細胞,33巻3号,42-45.(2001)