Yasunari Sakai - Publications

Baylor College of Medicine, Houston, TX 

36 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2018 Akamine S, Sagata N, Sakai Y, Kato TA, Nakahara T, Matsushita Y, Togao O, Hiwatashi A, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T, Sawa A, et al. Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations inand. Epilepsia Open. 3: 81-85. PMID 29588991 DOI: 10.1002/epi4.12085  0.48
2017 Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Sustained endocrine profiles of a girl with WAGR syndrome. Bmc Medical Genetics. 18: 117. PMID 29061165 DOI: 10.1186/s12881-017-0477-5  0.48
2016 Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T. De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy. Annals of Human Genetics. 80: 235-40. PMID 27346735 DOI: 10.1111/ahg.12157  0.48
2015 Iwahashi T, Ishiyama T, Sakai Y, Morita A, Kim D, Ouchi Y. Liquid/liquid interface layering of 1-butanol and [bmim]PF6 ionic liquid: a nonlinear vibrational spectroscopy and molecular dynamics simulation study. Physical Chemistry Chemical Physics : Pccp. PMID 26292934 DOI: 10.1039/c5cp03307a  0.48
2015 Ohkubo K, Sakai Y, Inoue H, Akamine S, Ishizaki Y, Matsushita Y, Sanefuji M, Torisu H, Ihara K, Sardiello M, Hara T. Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Scientific Reports. 5: 13191. PMID 26278786 DOI: 10.1038/srep13191  0.48
2014 Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T. Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. Bmc Medical Genomics. 7: 19. PMID 24755370 DOI: 10.1186/1755-8794-7-19  0.48
2013 Uike K, Matsushita Y, Sakai Y, Togao O, Nagao M, Ishizaki Y, Nagata H, Yamamura K, Torisu H, Hara T. Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report. Bmc Research Notes. 6: 456. PMID 24220024 DOI: 10.1186/1756-0500-6-456  0.48
2013 Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T. Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus. European Journal of Medical Genetics. 56: 475-83. PMID 23832106 DOI: 10.1016/j.ejmg.2013.06.009  0.48
2012 Pyun HB, Kim M, Park J, Sakai Y, Numata N, Shin JY, Shin HJ, Kim DU, Hwang JK. Effects of Collagen Tripeptide Supplement on Photoaging and Epidermal Skin Barrier in UVB-exposed Hairless Mice. Preventive Nutrition and Food Science. 17: 245-53. PMID 24471092 DOI: 10.3746/pnf.2012.17.4.245  0.36
2011 Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disorders. Science Translational Medicine. 3: 86ra49. PMID 21653829 DOI: 10.1126/scitranslmed.3002166  0.48
2011 Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Human Molecular Genetics. 20: 3366-75. PMID 21624971 DOI: 10.1093/hmg/ddr243  0.48
2011 Iwayama M, Kira R, Kinukawa N, Sakai Y, Torisu H, Sanefuji M, Ishizaki Y, Nose Y, Matsumoto T, Hara T. Parental age and child growth and development: child health check-up data. Pediatrics International : Official Journal of the Japan Pediatric Society. 53: 709-14. PMID 21342351 DOI: 10.1111/j.1442-200X.2011.03331.x  0.48
2010 Ishizaki Y, Yukaya N, Kusuhara K, Kira R, Torisu H, Ihara K, Sakai Y, Sanefuji M, Pipo-Deveza JR, Silao CL, Sanchez BC, Lukban MB, Salonga AM, Hara T. PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis. Human Genetics. 127: 411-9. PMID 20066438 DOI: 10.1007/s00439-009-0781-z  0.48
2010 Kira R, Ishizaki Y, Torisu H, Sanefuji M, Takemoto M, Sakamoto K, Matsumoto S, Yamaguchi Y, Yukaya N, Sakai Y, Gondo K, Hara T. Genetic susceptibility to febrile seizures: case-control association studies. Brain & Development. 32: 57-63. PMID 19854014 DOI: 10.1016/j.braindev.2009.09.018  0.48
2009 Ishizaki Y, Kira R, Fukuda M, Torisu H, Sakai Y, Sanefuji M, Yukaya N, Hara T. Interleukin-10 is associated with resistance to febrile seizures: genetic association and experimental animal studies. Epilepsia. 50: 761-7. PMID 19055487 DOI: 10.1111/j.1528-1167.2008.01861.x  0.48
2008 Ishizaki Y, Takemoto M, Kira R, Kusuhara K, Torisu H, Sakai Y, Sanefuji M, Yukaya N, Hara T. Association of toll-like receptor 3 gene polymorphism with subacute sclerosing panencephalitis. Journal of Neurovirology. 14: 486-91. PMID 19016379 DOI: 10.1080/13550280802298120  0.48
2007 Sanefuji M, Nakashima T, Kira R, Iwayama M, Torisu H, Sakai Y, Hara T. The relationship between retrieval success and task performance during the recognition of meaningless shapes: an event-related near-infrared spectroscopy study. Neuroscience Research. 59: 191-8. PMID 17720269 DOI: 10.1016/j.neures.2007.06.1480  0.48
2006 Sakai Y, Kira R, Torisu H, Ihara K, Yoshiura T, Hara T. Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases American Journal of Neuroradiology. 27: 1924-1926. PMID 17032867  0.48
2006 Sakai Y, Oda H, Yoshimura D, Furuichi M, Kang D, Iwai S, Hara T, Nakabeppu Y. The GT to GC single nucleotide polymorphism at the beginning of an alternative exon 2C of human MTH1 gene confers an amino terminal extension that functions as a mitochondrial targeting signal. Journal of Molecular Medicine (Berlin, Germany). 84: 660-70. PMID 16607562 DOI: 10.1007/s00109-006-0053-5  0.48
2006 Sakai Y, Kira R, Torisu H, Yasumoto S, Saito M, Kusuhara K, Hara T. Benign convulsion with mild gastroenteritis and benign familial infantile seizure. Epilepsy Research. 68: 269-71. PMID 16473501 DOI: 10.1016/j.eplepsyres.2006.01.004  0.48
2006 Torisu H, Kira R, Kanazawa N, Takemoto M, Sanefuji M, Sakai Y, Tsujino S, Hara T. A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. Brain & Development. 28: 332-5. PMID 16376511 DOI: 10.1016/j.braindev.2005.10.002  0.48
2006 Sakai Y, Khajoee V, Ogawa Y, Kusuhara K, Katayama Y, Hara T. A novel transfection method for mammalian cells using gas plasma. Journal of Biotechnology. 121: 299-308. PMID 16216376 DOI: 10.1016/j.jbiotec.2005.08.020  0.48
2005 Takemoto M, Kira R, Kusuhara K, Torisu H, Sakai Y, Hara T. Gene expression profiles in peripheral blood mononuclear cells from patients with subacute sclerosing panencephalitis using oligonucleotide microarrays. Journal of Neurovirology. 11: 299-305. PMID 16036810 DOI: 10.1080/13550280590953825  0.48
2005 Kira R, Torisu H, Takemoto M, Nomura A, Sakai Y, Sanefuji M, Sakamoto K, Matsumoto S, Gondo K, Hara T. Genetic susceptibility to simple febrile seizures: interleukin-1beta promoter polymorphisms are associated with sporadic cases. Neuroscience Letters. 384: 239-44. PMID 15916853 DOI: 10.1016/j.neulet.2005.04.097  0.48
2004 Mishima M, Sakai Y, Itoh N, Kamiya H, Furuichi M, Takahashi M, Yamagata Y, Iwai S, Nakabeppu Y, Shirakawa M. Structure of human MTH1, a Nudix family hydrolase that selectively degrades oxidized purine nucleoside triphosphates. The Journal of Biological Chemistry. 279: 33806-15. PMID 15133035 DOI: 10.1074/jbc.M402393200  0.48
2004 Torisu H, Kusuhara K, Kira R, Bassuny WM, Sakai Y, Sanefuji M, Takemoto M, Hara T. Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis Neurology. 62: 457-460. PMID 14872030  0.48
2004 Ichinoe A, Behmanesh M, Tominaga Y, Ushijima Y, Hirano S, Sakai Y, Tsuchimoto D, Sakumi K, Wake N, Nakabeppu Y. Identification and characterization of two forms of mouse MUTYH proteins encoded by alternatively spliced transcripts. Nucleic Acids Research. 32: 477-87. PMID 14742662 DOI: 10.1093/nar/gkh214  0.48
2003 Yoshimura D, Sakumi K, Ohno M, Sakai Y, Furuichi M, Iwai S, Nakabeppu Y. An oxidized purine nucleoside triphosphatase, MTH1, suppresses cell death caused by oxidative stress. The Journal of Biological Chemistry. 278: 37965-73. PMID 12857738 DOI: 10.1074/jbc.M306201200  0.48
2003 Khajoee V, Ihara K, Kira R, Takemoto M, Torisu H, Sakai Y, Guanjun J, Hee PM, Tokunaga K, Hara T. Founder effect of the C9 R95X mutation in Orientals. Human Genetics. 112: 244-8. PMID 12596049 DOI: 10.1007/s00439-002-0870-8  0.48
2002 Takahashi M, Maraboeuf F, Sakai Y, Yakushiji H, Mishima M, Shirakawa M, Iwai S, Hayakawa H, Sekiguchi M, Nakabeppu Y. Role of tryptophan residues in the recognition of mutagenic oxidized nucleotides by human antimutator MTH1 protein. Journal of Molecular Biology. 319: 129-39. PMID 12051941 DOI: 10.1016/S0022-2836(02)00163-8  0.48
2002 Sakai Y, Furuichi M, Takahashi M, Mishima M, Iwai S, Shirakawa M, Nakabeppu Y. A molecular basis for the selective recognition of 2-hydroxy-dATP and 8-oxo-dGTP by human MTH1. The Journal of Biological Chemistry. 277: 8579-87. PMID 11756418 DOI: 10.1074/jbc.M110566200  0.48
2001 Kasprzak KS, Nakabeppu Y, Kakuma T, Sakai Y, Tsuruya K, Sekiguchi M, Ward JM, Diwan BA, Nagashima K, Kasprzak BH. Intracellular distribution of the antimutagenic enzyme MTH1 in the liver, kidney and testis of F344 rats and its modulation by cadmium Experimental and Toxicologic Pathology. 53: 325-335. PMID 11817101  0.48
2001 Tsuchimoto D, Sakai Y, Sakumi K, Nishioka K, Sasaki M, Fujiwara T, Nakabeppu Y. Human APE2 protein is mostly localized in the nuclei and to some extent in the mitochondria, while nuclear APE2 is partly associated with proliferating cell nuclear antigen Nucleic Acids Research. 29: 2349-2360. PMID 11376153  0.48
1999 Sakai Y, Nakayama H, Matsuzaki A, Nagatoshi Y, Suminoe A, Honda K, Inamitsu T, Ohga S, Hara T. Trisomy 10 in a child with acute nonlymphocytic leukemia followed by relapse with a different clone Cancer Genetics and Cytogenetics. 115: 47-51. PMID 10565299 DOI: 10.1016/S0165-4608(99)00087-4  0.48
1998 Sakai Y, Ohga S, Tonegawa Y, Takada H, Nakao F, Nakayama H, Aoki T, Yamamori S, Hara T. Interferon-α therapy for chronic active Epstein-Barr virus infection: Potential effect on the development of T-lymphoproliferative disease Journal of Pediatric Hematology/Oncology. 20: 342-346. PMID 9703010 DOI: 10.1097/00043426-199807000-00013  0.48
1989 Sakai Y, Yao H, Sadoshima S, Fujishima M, Okochi K. Development of HTLV-I associated myelopathy (HAM) in a seroconverted patient for antibody to HTLV-I Journal of Neurology Neurosurgery and Psychiatry. 52: 1445. PMID 2614452  0.48
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