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    1. Takiyama T, Sera T, Nakamura M, Hoshino M, Uesugi K, Horike SI, Meguro-Horike M, Bessho R, Takiyama Y, Kitsunai H, Takeda Y, Sawamoto K, Yagi N, Nishikawa Y, Takiyama Y. (2022) “A maternal high-fat diet induces fetal origins of NASH-HCC in mice.”Scientific reports, 12(1):13136. doi: 10.1038/s41598-022-17501-8.
      2. PMID:35907977
    2. Ono M, Toyoda N, Kagami K, Hosono T, Matsumoto T, Horike SI, Yamazaki R, Nakamura M, Mizumoto Y, Fujiwara T, Ando H, Fujiwara H, Daikoku T. (2022) “Uterine Deletion of Bmal1 Impairs Placental Vascularization and Induces Intrauterine Fetal Death in Mice.” International journal of molecular sciences, 23(14):7637. doi: 10.3390/ijms23147637.
      3. PMID:35886985
    3. Matsumoto T, Iizuka T, Nakamura M, Suzuki T, Yamamoto M, Ono M, Kagami K, Kasama H, Wakae K, Muramatsu M, Horike SI, Kyo S, Yamamoto Y, Mizumoto Y, Daikoku T, Fujiwara H. (2022) “FOXP4 inhibits squamous differentiation of atypical cells in cervical intraepithelial neoplasia via an ELF3-dependent pathway.” Cancer Science, doi: 10.1111/cas.15489.
      4. PMID:35838233
    4. Peng Y, Tsuno Y, Matsui A, Hiraoka Y, Tanaka K, Horike SI, Daikoku T, Mieda M. (2022) “Cell Type-Specific Genetic Manipulation and Impaired Circadian Rhythms in Vip tTA Knock-In Mice.” Frontiers in physiology, 13:895633. doi: 10.3389/fphys.2022.895633.
      5. PMID:35592033
    5. Mukai K, Horike SI, Meguro-Horike M, Nakajima Y, Iswara A, Nakatani T. (2022) “Topical estrogen application promotes cutaneous wound healing in db/db female mice with type 2 diabetes.” PLoS One, 17(3):e0264572.
      6. PMID:35271602
    6. Iwasaki H, Shimura T, Kitagawa M, Yamada T, Nishigaki R, Fukusada S, Okuda Y, Katano T, Horike SI, Kataoka H. (2022) “A Novel Urinary miRNA Biomarker for Early Detection of Colorectal Cancer.” Cancers, 14(2):461.
      7. PMID:35053622
    7. Que L, Li Y, Dainichi T, Kukimoto I, Nishiyama T, Nakano Y, Shima K, Suzuki T, Sato Y, Horike S, Aizaki H, Watashi K, Kato T, Aly HH, Watanabe N, Kabashima K, Wakae K, Muramatsu M. (2021) “Interferon-gamma induced APOBEC3B contributes to Merkel cell polyomavirus genome mutagenesis in Merkel cell carcinoma.” J. Invest. Dermatol., S0022-202X(21)02636-1.
      8. PMID:34968501
    8. Nagaya S, Maruyama K, Watanabe A, Meguro-Horike M, Imai Y, Hiroshima Y, Horike SI, Kokame K, Morishita E. (2022) “First report of inherited protein S deficiency caused by paternal PROS1 mosaicism.” Haematologica, 107(1):330-333.
      9. PMID:34647440
    9. Yiming R, Takeuchi Y, Nishimura T, Li M, Wang Y, Meguro-Horike M, Kohno T, Horike SI, Nakata A, Gotoh N. (2021) “MUSASHI-2 confers resistance to third-generation EGFR-tyrosine kinase inhibitor osimertinib in lung adenocarcinoma.” Cancer Science, doi: 10.1111/cas.15036.
      10. PMID:34145929
    10. Sheng J, Kohno S, Okada N, Okahashi N, Teranishi K, Matsuda F, Shimizu H, Linn P, Nagatani N, Yamamura M, Harada K, Horike SI, Inoue H, Yano S, Kumar S, Kitajima S, Ajioka I, Takahashi C. (2021) “Treatment of RB1-intact hepatocellular carcinoma with CDK4/6 inhibitor combination therapy.” Hepatology, doi: 10.1002/hep.31872.
      11. PMID:33931882
    11. Okuda Y, Shimura T, Iwasaki H, Fukusada S, Nishigaki R, Kitagawa M, Katano T, Okamoto Y, Yamada T, Horike SI, Kataoka H. (2021) “Urinary microRNA biomarkers for detecting the presence of esophageal cancer.” Scientific reports, 11(1):8508. doi: 10.1038/s41598-021-87925-1.
      12. PMID:33879806
    12. Takeda Y, Demura M, Wang F, Karashima S, Yoneda T, Kometani M, Aomo D, Hashimoto A, Horike SI, Meguro-Horike M, Takeda Y. (2021) “Effect of potassium on DNA methylation of aldosterone synthase gene.” Journal of Hypertension, 39(5):1018-1024. doi: 10.1097/HJH.0000000000002742.
      13. PMID:33657579
    13. Iizuka T, Wakae K, Ono M, Suzuki T, Mizumoto Y, Kitamura K, Horike SI, Muramatsu M, Fujiwara H. (2021) “Activation-induced cytidine deaminase is a possible regulator of cross-talk between oocytes and granulosa cells through GDF-9 and SCF feedback system.” Scientific reports, 11(1):3833. doi: 10.1038/s41598-021-83529-x.
      14. PMID:33589683
    14. Kulathunga N, Kohno S, Linn P, Nishimoto Y, Horike SI, Zaraiskii MI, Kumar S, Muranaka H, Takahashi C. (2020) “Peripubertal High Fat Diet Promotes c-Myc Stabilization in Mammary Gland Epithelium.” Cancer Science, 111(7):2336-2348. doi: 10.1111/cas.14492.
      15. PMID:32437590
    15. Nakata H, Terakawa J, Horike SI, Daikoku T, Iseki S. (2020) “The Lack of Terminal Tubule Cells in the Submandibular Gland of Mice Deficient in Submandibular Gland Protein C.” Cell Tissue Research, 381(2):229-237. doi: 10.1007/s00441-020-03205-w.
      16. PMID:32418130　　　
    16. Togashi, T., Meguro-Horike, M., Nagaya, S., Sugihara, S., Ichinohe, T., Araiso, Y., Yamaguchi, K., Mori, K., Imai, Y., Kuzasa, K., Horike S.I., Asakura, H., Watanabe, A., Morishita, E. (2020) “Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC.” Thrombosis Research, 188:115-118. doi:10.1016/j.thromres.2020.03.009.
      17. PMID:32199175 　　　　
    17. Hazawa, M., Sakai, K., Kobayashi, A., Yoshino, H., Iga, Y., Iwashima, Y., Lim, K.S., Chih-Cheng, Voon. D., Jiang, Y.Y., Horike, S.I., Lin, D.C., Wong, R.W. (2020) “Disease-specific alteration of karyopherin-α subtype establishes feed-forward oncogenic signaling in head and neck squamous cell carcinoma.” Oncogene, 39(10):2212-2223. doi:10.1038/s41388-019-1137-3.
      18. PMID:31822798 　　　　
    18. Togashi, T., Nagaya, S., Nagasawa, M., Meguro-Horike, M., Nogami, K., Imai, Y., Kuzasa, K., Sekiya, A., Horike, S.I., Asakura, H., Morishita, E. (2020) “Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate.” International journal of hematology, 111(1):51-56. doi:10.1007/s12185-019-02767-y.
      19. PMID:31667683 　　　　
    19. Taketani, H., Nishikawa, T., Nakajima, H., Kodo, K., Sugimoto, S., Aoi, W., Horike, S., Meguro-Horike, M., Ishiba, H., Seko, Y., Umemura, A., Yamaguchi, K., Moriguchi, M., Yasui, K., Itoh, Y. (2019) “Aging-associated impairment in metabolic compensation by subcutaneous adipose tissue promotes diet-induced fatty liver disease in mice.” Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy, 12, 1473—1492. doi:10.2147/DMSO.S214093.
      20. PMID:31692556 　　　　
    20. Kometani, M., Yoneda, T., Demura, M., Aono, D., Gondoh, Y., Karashima, S., Nishimoto, K., Yasuda, M., Horike, S.I., Takeda, Y. (2019) “Genetic and epigenetic analyses of aldosterone-producing adenoma with hypercortisolemia.” Steroids, 151:108470. doi:10.1016/j.steroids.2019.108470.
      21. PMID:31400391 　　　　
    21. Iwasaki, H., Shimura, T., Yamada, T., Okuda, Y., Natsume, M., Kitagawa, M., Horike, S.I., Kataoka, H. (2019) “A novel urinary microRNA biomarker panel for detecting gastric cancer.” Journal of gastroenterology, 54(12):1061-1069. doi:10.1007/s00535-019-01601-w.
      22. PMID:31240436 　　　　
    22. Itoh, M., Dai, H., Horike, S.I., Gonzalez, J., Kitami, Y., Meguro-Horike, M., Kuki, I., Shimakawa, S., Yoshinaga, H., Ota, Y., Okazaki, T., Maegaki, Y., Nabatame, S., Okazaki, S., Kawawaki, H., Ueno, N., Goto, Y.I., Kato, Y. (2019) “Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.” Brain, 142(3):560-573. doi:10.1093/brain/awz001.
      23. PMID:30715177 　　　　
    23. Ichinose, W., Cherepanov, S.M., Shabalova, A.A., Yokoyama, S., Yuhi, T., Yamaguchi, H., Watanabe, A., Yamamoto, Y., Okamoto, H., Horike, S., Terakawa, J., Daikoku, T., Watanabe, M., Mano, N., Higashida, H., Shuto, S. (2019) “Development of a Highly Potent Analogue and a Long-Acting Analogue of Oxytocin for the Treatment of Social Impairment-Like Behaviors.” J. Med. Chem.,62(7):3297-3310. doi:10.1021/acs.jmedchem.8b01691.
      24. PMID:30896946 　　　　
    24. Ooi, A., Inokuchi, M., Horike, S.I., Kawashima, H., Ishikawa, S., Ikeda, H., Nakamura, R., Oyama, T., Dobash, Y. (2019) “Amplicons in breast cancers analyzed by multiplex ligation-dependent probe amplification and fluorescence In Situ hybridization.” Human pathology, 85:33-43. doi:10.1016/j.humpath.2018.10.017.
      25. PMID:30385370 　　　　
    25. Nishimura, T., Nakata, A., Chen, X., Nishi, K., Meguro-Horike, M., Sasaki, S., Kita, K., Horike, S.I., Saitoh, K., Kato, K., Igarashi, K., Murayama, T., Kohno, S., Takahashi, C., Mukaida, N., Yano, S., Soga, T., Tojo, A., Gotoh, N. (2019) “Cancer stem-like properties and gefitinib resistance are dependent on purine synthetic metabolism mediated by the mitochondrial enzyme MTHFD2.” Oncogene, 38(14):2464-2481. doi:10.1038/s41388-018-0589-1.
      26. PMID:30532069 　　　　
    26. Hirata, E., Ichikawa, T., Horike, S.I., Kiyokawa, E. (2018) “Active K-RAS induces the coherent rotation of epithelial cells: A model for collective cell invasion in vitro.” Cancer science,109(12):4045-4055. doi:10.1111/cas.13816.
      27. PMID:30281889 　　　　
    27. Sakaguchi, T., Yoshino, H., Sugita, S., Miyamoto, K., Yonemori, M., Osako, Y., Meguro-Horike, M., Horike, S.I., Nakagawa, M., Enokida, H. (2018) “Bromodomain protein BRD4 inhibitor JQ1 regulates potential prognostic molecules in advanced renal cellcarcinoma.” Oncotarget, 9(33):23003-23017. doi: 10.18632/oncotarget.25190.
      28. PMID:29796168 　　　　
    28. Takeda, Y., Demura, M., Wang, F., Karashima, S., Yoneda, T., Kometani, M., Hashimoto, A., Aono, D., Horike, S., Meguro-Horike, M., Yamagishi, M., Takeda, Y. (2018) “Epigenetic regulation of aldosterone synthase gene by sodium and angiotensin II.” Journal of the American Heart Association,
      29. 7(10). pii: e008281. doi: 10.1161/JAHA.117.008281.PMID:29739797 　　　　
    29. Hazawa, M., Lin, D.C., Kobayashi, A., Jiang, Y.Y., Xu, L., Dewi, F.R.P., Mohamed, M.S., Hartono, Nakada, M., Meguro-Horike, M., Horike, S.I., Koeffler, H.P., Wong, R.W.(2017) “ROCK-dependent phosphorylation of NUP62 regulates p63 nuclear transport and squamous cell carcinoma proliferation.” EMBO Reports, 19(1):73-88. doi: 10.15252/embr.201744523.
      30. PMID:29217659 　　　　
    30. 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.
      31. PMID:29070872
    31. 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.
      32. PMID:28925810
    32. 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.
      33. PMID:28894201
    33. 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.
      34. PMID:28427592
    34. 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.
      35. PMID:27974215
    35. 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.
      36. PMID:27585487
    36. 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.
      37. PMID:26834651
    37. 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.
      38. PMID:26820155
    38. 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
      39. PMID:25555588
    39. 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
      40. DOI:10.5772/34102
    40. 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.
      41. PMID:21840925
    41. 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
      42. PMID:21725066
    42. 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
      43. PMID:21035970
    43. 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.
      44. PMID:20678252
    44. 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.
      45. PMID:19876907
    45. 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.
      46. PMID:18537997
    46. 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.
      47. PMID:18496206
    47. *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.
      48. PMID:16556609
    48. 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.
      49. PMID:15608638
    49. 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.
      50. PMID:15358173
    50. 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.
      51. PMID:10958646
    51. 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.
    52. 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. 目黒牧子, 堀家慎一「プラダー・ウィリー/アンジェルマン症候群責任遺伝子座におけるノンコーディングRNA」遺伝子医学８巻１号（通巻２６号）93-97,2018年10月1日発行
      2. 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
      3. 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
      4. 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
      5. 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
      6. 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
      7. 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
      8. 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.
      9. 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
      10. 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）
      11. 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）