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  1. 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. PMID:28427592
  2. 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.
  3. PMID:27974215
  4. 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.
  5. PMID:27585487
  6. 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.
  7. PMID:26834651
  8. 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.
  9. PMID:26820155
  10. 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
  11. PMID:25555588
  12. 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
  13. DOI:10.5772/34102
  14. 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.
  15. PMID:21840925
  16. 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
  17. PMID:21725066
  18. 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
  19. PMID:21035970
  20. 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.
  21. PMID:20678252
  22. 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.
  23. PMID:19876907
  24. 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.
  25. PMID:18537997
  26. 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.
  27. PMID:18496206
  28. *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.
  29. PMID:16556609
  30. 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.
  31. PMID:15608638
  32. 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.
  33. PMID:15358173
  34. 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.
  35. PMID:10958646