Toshiyuki Yamamoto

Summary

Affiliation: Tottori University
Country: Japan

Publications

  1. ncbi request reprint Abnormal expansion of peripheral gamma delta T cells in patients with neurologic disorders
    T Yamamoto
    Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    Brain Behav Immun 11:157-66. 1997
  2. ncbi request reprint A patient with cerebral palsy whose mother had a traffic accident during pregnancy: a diffuse axonal injury?
    T Yamamoto
    Gene Research Center, Tottori University, Yonago, Japan
    Brain Dev 21:334-6. 1999
  3. ncbi request reprint NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
    T Yamamoto
    Gene Research Center, Tottori University, Yonago, Japan
    Hum Genet 105:10-6. 1999
  4. ncbi request reprint Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy
    T Yamamoto
    Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    Brain Dev 23:62-4. 2001
  5. ncbi request reprint Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
    Toshiyuki Yamamoto
    Gene Research Center, Tottori University, Yonago 683 8503, Japan
    Brain Dev 24:227-30. 2002
  6. ncbi request reprint New GAA mutations in Japanese patients with GSDII (Pompe disease)
    Judy R Pipo
    Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    Pediatr Neurol 29:284-7. 2003
  7. ncbi request reprint Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies
    Mitsuo Toyoshima
    Division of Child Neurology, Institute of Neurological Science, Faculty of Medicine, Tottori University, Yonago, Japan
    Pediatr Neurol 33:98-104. 2005
  8. ncbi request reprint Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)
    Hiroyuki Torisu
    Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    Am J Med Genet A 131:94-8. 2004
  9. ncbi request reprint Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation
    Jian hua Feng
    Department of Child Neurology, Children Hospital, Zhejiang University, Hangzhou, PR China
    Hum Mutat 23:397. 2004
  10. ncbi request reprint Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity
    Yuko Saito
    Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan
    Ann Neurol 52:351-5. 2002

Collaborators

Detail Information

Publications26

  1. ncbi request reprint Abnormal expansion of peripheral gamma delta T cells in patients with neurologic disorders
    T Yamamoto
    Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    Brain Behav Immun 11:157-66. 1997
    ..These results might indicate the existence of neuroimmunologic disorder(s)...
  2. ncbi request reprint A patient with cerebral palsy whose mother had a traffic accident during pregnancy: a diffuse axonal injury?
    T Yamamoto
    Gene Research Center, Tottori University, Yonago, Japan
    Brain Dev 21:334-6. 1999
    ..These findings might indicate a diffuse axonal injury (DAI), but not an asphyxic brain damage. In this patient, CP might be caused by an intrauterine DAI when her mother was involved in the accident...
  3. ncbi request reprint NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
    T Yamamoto
    Gene Research Center, Tottori University, Yonago, Japan
    Hum Genet 105:10-6. 1999
    ..Of the 14 mutations, the G1553A substitution that caused a splicing error of exon 9 appeared to be relatively common in Japanese patients, because two patients were homozygous and one patient was compound heterozygous for this mutation...
  4. ncbi request reprint Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy
    T Yamamoto
    Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    Brain Dev 23:62-4. 2001
    ..We could conclude that the physician should judge comprehensively the treatment considering the more favorable situation for the patient and the family...
  5. ncbi request reprint Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
    Toshiyuki Yamamoto
    Gene Research Center, Tottori University, Yonago 683 8503, Japan
    Brain Dev 24:227-30. 2002
    ..In accordance with previous findings, the patients with TSC1 mutations had milder clinical manifestations than those with TSC2 mutations...
  6. ncbi request reprint New GAA mutations in Japanese patients with GSDII (Pompe disease)
    Judy R Pipo
    Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    Pediatr Neurol 29:284-7. 2003
    ..The pathogenicity of these new mutations was verified by the loss of function of the mutant enzymes expressed in COS cells...
  7. ncbi request reprint Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies
    Mitsuo Toyoshima
    Division of Child Neurology, Institute of Neurological Science, Faculty of Medicine, Tottori University, Yonago, Japan
    Pediatr Neurol 33:98-104. 2005
    ..Careful monitoring of lactate and pyruvate would be useful in determining thiamine dosage...
  8. ncbi request reprint Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)
    Hiroyuki Torisu
    Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    Am J Med Genet A 131:94-8. 2004
    ..31;q13.1),-15, derived from maternal translocation. Molecular analysis determined a breakpoint of 1p between D1S243 and D1S468, which suggested that most genes contributing to the common phenotype are in the distal region...
  9. ncbi request reprint Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation
    Jian hua Feng
    Department of Child Neurology, Children Hospital, Zhejiang University, Hangzhou, PR China
    Hum Mutat 23:397. 2004
    ..As previously reported, the missense mutations were located in the GTPase activating protein-related domain of TSC2 encoded in exons 34-38. No TSC1 mutations were identified in the present subjects...
  10. ncbi request reprint Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity
    Yuko Saito
    Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan
    Ann Neurol 52:351-5. 2002
    ..Investigation of these patients may provide an important clue for understanding the pathogenesis of Alzheimer's disease...
  11. ncbi request reprint Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients
    Toshiyuki Yamamoto
    Division of Medical Genetics, Kanagawa Children s Medical Center, 2 138 4 Mutsukawa, Minami Ku, Yokohama 232 8555, Japan
    Brain Dev 26:245-50. 2004
    ..These results suggest that NPC1 transcription levels are altered in cells with mutations in the NPC1 gene...
  12. ncbi request reprint POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait
    Masanori Adachi
    Department of Endocrinology and Metabolism, Clinical Research Institute, Kanagawa Children s Medical Center, Yokohama, Japan
    Am J Med Genet A 140:633-5. 2006
  13. ncbi request reprint Transgenic expression of dominant negative tuberin through a strong constitutive promoter results in a tissue-specific tuberous sclerosis phenotype in the skin and brain
    Baskaran Govindarajan
    Department of Dermatology, Emory University School of Medicine, Atlanta, GA 30322, USA
    J Biol Chem 280:5870-4. 2005
    ..Our data are the first to demonstrate that specific signaling abnormalities underlie specific hamartomas in a model of a human genetic disorder...
  14. pmc Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome
    Tadashi Kaname
    Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Nishihara, Okinawa, Japan
    Am J Hum Genet 81:835-41. 2007
    ..Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro. These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth...
  15. ncbi request reprint T cell gene expression profiling identifies distinct subgroups of Japanese multiple sclerosis patients
    Jun ichi Satoh
    Department of Immunology, National Institute of Neuroscience, NCNP, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    J Neuroimmunol 174:108-18. 2006
    ..These results suggest that T-cell gene expression profiling is valuable to identify distinct subgroups of MS associated with differential disease activity and therapeutic response to IFNbeta...
  16. ncbi request reprint Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analyses
    Shoko Miura
    Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
    Am J Med Genet A 140:1737-43. 2006
    ..This is the first case of FIF showing different methylation patterns between a host infant and fetiform mass...
  17. ncbi request reprint Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya disease
    Marco T Paez
    Neurosurgery 60:E582; author reply E582. 2007
  18. ncbi request reprint GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome
    Satoru Sakazume
    Division of Medical Genetics, Saitama Children s Medical Center, Saitama, Japan
    Am J Med Genet A 143:1703-7. 2007
    ..Also, no correlation has been noted between the location and nature of mutations and the phenotype of the patients studied, as is the case of the present study...
  19. ncbi request reprint Clinical analysis of 21 patients with psoriasis arthropathy
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    J Dermatol 32:84-90. 2005
    ..These results are consistent with earlier observations suggesting a different subpopulation of inflammatory cells in the skin than the joint...
  20. ncbi request reprint [No association between moyamoya disease and polymorphism of IGF2R]
    Toshiyuki Yamamoto
    Division of Medical Genetics, Kanagawa Children s Medical Center, Yokohama, Kanagawa
    No To Hattatsu 37:15-9. 2005
    ..On the other hand, heterogeneous expressions of IGF2R were confirmed in the lymphocytes. Some individuals showed monoallelic expression and others showed biallelic expression...
  21. ncbi request reprint A high incidence of scoliosis in children with tension-type headache
    Toshiyuki Yamamoto
    Pediatr Int 46:751; discussion 752. 2004
  22. ncbi request reprint Upregulation of interleukin-13 and its receptor in a murine model of bleomycin-induced scleroderma
    Mariko Matsushita
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo, Japan
    Int Arch Allergy Immunol 135:348-56. 2004
    ..Previously, a murine model for scleroderma has been established by repeated local injections of bleomycin. This animal model enabled us to study local expression and production of IL-13 in skin lesions during disease progression...
  23. ncbi request reprint [Validation of the Japanese-translated version Multiple Sclerosis Quality of Life-54 instrument]
    Toshiyuki Yamamoto
    Department of Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders
    Rinsho Shinkeigaku 44:417-21. 2004
    ..The Japanese-translated version of MSQOL-54 may provide unique information not readily evaluated by EDSS, and may be useful as clinical outcome measures in patients with MS...
  24. ncbi request reprint Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia
    Ann Neurol 55:550-7. 2004
    ..Ictal recordings in four subjects showed onset in the posterior quadrants. SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis...
  25. ncbi request reprint Possible role of apoptosis in the pathogenesis of bleomycin-induced scleroderma
    Toshiyuki Yamamoto
    Tokyo Medical and Dental University School of Medicine, Department of Dermatology, Tokyo, Japan
    J Invest Dermatol 122:44-50. 2004
    ..These findings suggest that excessive apoptosis, which is mediated by Fas/Fas ligand pathway and caspase-3 activation, is involved in the pathogenesis of bleomycin-induced scleroderma, possibly by playing an inflammatory role...
  26. doi request reprint Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits
    Marco T Paez
    International Research and Educational Institute for Integrated Medical Sciences IREIIMS, Tokyo Women s Medical University, Tokyo, Japan
    Am J Med Genet A 146:1158-65. 2008
    ....