Research Topics
Species | Toshiyuki YamamotoSummaryAffiliation: Tottori University Country: Japan Publications
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Detail Information
Publications
Abnormal expansion of peripheral gamma delta T cells in patients with neurologic disordersT 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)...- 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... - NPC1 gene mutations in Japanese patients with Niemann-Pick disease type CT 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... - Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsyT 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... - Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complexToshiyuki 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... - 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... - Thiamine-responsive congenital lactic acidosis: clinical and biochemical studiesMitsuo 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... - 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... - Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutationJian 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... - Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosityYuko 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... - Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patientsToshiyuki 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... - POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive traitMasanori 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 - Transgenic expression of dominant negative tuberin through a strong constitutive promoter results in a tissue-specific tuberous sclerosis phenotype in the skin and brainBaskaran 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... 
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndromeTadashi 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...- T cell gene expression profiling identifies distinct subgroups of Japanese multiple sclerosis patientsJun-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... - Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analysesShoko 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... - Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya diseaseMarco T Paez
Neurosurgery 60:E582; author reply E582. 2007 - GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndromeSatoru 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... - Clinical analysis of 21 patients with psoriasis arthropathyToshiyuki 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... - [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... - A high incidence of scoliosis in children with tension-type headacheToshiyuki Yamamoto
Pediatr Int 46:751; discussion 752. 2004 - Upregulation of interleukin-13 and its receptor in a murine model of bleomycin-induced sclerodermaMariko 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... - [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... - Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathySamuel 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... - Possible role of apoptosis in the pathogenesis of bleomycin-induced sclerodermaToshiyuki 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... 
Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traitsMarco 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....