Toshiyuki Yamamoto

Summary

Affiliation: Tokyo Medical and Dental University
Country: Japan

Publications

  1. ncbi request reprint Increased expression of p53 and p21 (Waf1/Cip1) in the lesional skin of bleomycin-induced scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo, 113 8519, Japan
    Arch Dermatol Res 296:509-13. 2005
  2. 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
  3. ncbi request reprint Role of monocyte chemoattractant protein-1 and its receptor,CCR-2, in the pathogenesis of bleomycin-induced scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    J Invest Dermatol 121:510-6. 2003
  4. ncbi request reprint Monocyte chemoattractant protein-1 enhances gene expression and synthesis of matrix metalloproteinase-1 in human fibroblasts by an autocrine IL-1 alpha loop
    T Yamamoto
    Department of Dermatology, University of Cologne, Germany
    J Immunol 164:6174-9. 2000
  5. ncbi request reprint Potential roles of CCL2/monocyte chemoattractant protein-1 in the pathogenesis of cutaneous sclerosis
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Clin Exp Rheumatol 21:369-75. 2003
  6. ncbi request reprint Topical tacrolimus: an effective therapy for facial psoriasis
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Eur J Dermatol 13:471-3. 2003
  7. ncbi request reprint Effect of interleukin-10 on the gene expression of type I collagen, fibronectin, and decorin in human skin fibroblasts: differential regulation by transforming growth factor-beta and monocyte chemoattractant protein-1
    T Yamamoto
    Department of Dermatology, University of Cologne, Joseph Stelzmann Strasse 9, Cologne, 50924, Germany
    Biochem Biophys Res Commun 281:200-5. 2001
  8. ncbi request reprint Animal model of sclerotic skin. III: Histopathological comparison of bleomycin-induced scleroderma in various mice strains
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Japan
    Arch Dermatol Res 292:535-41. 2000
  9. ncbi request reprint Bleomycin increases steady-state levels of type I collagen, fibronectin and decorin mRNAs in human skin fibroblasts
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Japan
    Arch Dermatol Res 292:556-61. 2000
  10. ncbi request reprint Unusual annular erythema associated with myelodysplastic syndrome
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Tokyo, Japan
    Dermatology 202:70-2. 2001

Collaborators

Detail Information

Publications154 found, 100 shown here

  1. ncbi request reprint Increased expression of p53 and p21 (Waf1/Cip1) in the lesional skin of bleomycin-induced scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo, 113 8519, Japan
    Arch Dermatol Res 296:509-13. 2005
    ..Our findings suggest that apoptotic processes are involved in the pathophysiology of bleomycin-induced scleroderma, which may be mediated, in part, by the upregulation of p53 and p21...
  2. 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...
  3. ncbi request reprint Role of monocyte chemoattractant protein-1 and its receptor,CCR-2, in the pathogenesis of bleomycin-induced scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    J Invest Dermatol 121:510-6. 2003
    ....
  4. ncbi request reprint Monocyte chemoattractant protein-1 enhances gene expression and synthesis of matrix metalloproteinase-1 in human fibroblasts by an autocrine IL-1 alpha loop
    T Yamamoto
    Department of Dermatology, University of Cologne, Germany
    J Immunol 164:6174-9. 2000
    ..These data demonstrate that MCP-1 up-regulates MMP-1 mRNA expression and synthesis in human skin fibroblasts at a transcriptional level and provide evidence that this is mediated by an IL-1 alpha autocrine loop...
  5. ncbi request reprint Potential roles of CCL2/monocyte chemoattractant protein-1 in the pathogenesis of cutaneous sclerosis
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Clin Exp Rheumatol 21:369-75. 2003
    ..This review summarizes recent findings of the potential roles of CCL2 in cutaneous sclerosis in experimental animal models of scleroderma as well as human scleroderma...
  6. ncbi request reprint Topical tacrolimus: an effective therapy for facial psoriasis
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Eur J Dermatol 13:471-3. 2003
    ..95 to 0.24, respectively. These data demonstrate that topical tacrolimus is effective for facial lesions of psoriasis without occlusion. We conclude that topical tacrolimus is an effective treatment for facial psoriasis...
  7. ncbi request reprint Effect of interleukin-10 on the gene expression of type I collagen, fibronectin, and decorin in human skin fibroblasts: differential regulation by transforming growth factor-beta and monocyte chemoattractant protein-1
    T Yamamoto
    Department of Dermatology, University of Cologne, Joseph Stelzmann Strasse 9, Cologne, 50924, Germany
    Biochem Biophys Res Commun 281:200-5. 2001
    ..Our data indicate that IL-10 differentially regulates TGF-beta and MCP-1 in the modulation of ECM proteins and therefore suggest that IL-10 plays a role in the regulation of tissue remodeling...
  8. ncbi request reprint Animal model of sclerotic skin. III: Histopathological comparison of bleomycin-induced scleroderma in various mice strains
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Japan
    Arch Dermatol Res 292:535-41. 2000
    ..Taken together, we conclude that C3H/He and B10.A mouse strains are bleomycin-'susceptible', and these strains are considered to be a suitable experimental model of bleomycin-induced scleroderma...
  9. ncbi request reprint Bleomycin increases steady-state levels of type I collagen, fibronectin and decorin mRNAs in human skin fibroblasts
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Japan
    Arch Dermatol Res 292:556-61. 2000
    ..Our results indicate that bleomycin modulates gene expression of extracellular matrix proteins in dermal fibroblasts, and this effect may be mediated by TGF-beta and CTGF...
  10. ncbi request reprint Unusual annular erythema associated with myelodysplastic syndrome
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Tokyo, Japan
    Dermatology 202:70-2. 2001
    ..84 pg/ml, normal < 2.0 pg/ml), whereas other cytokines including G-CSF, IL-6, and IL-8 were within normal limits. Skin manifestations were much improved by systemic mepitiostane, and serum GM-CSF level returned to normal levels...
  11. ncbi request reprint Alteration of the expression of Bcl-2, Bcl-x, Bax, Fas, and Fas ligand in the involved skin of psoriasis vulgaris following topical anthralin therapy
    T Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Tokyo, Japan
    Skin Pharmacol Appl Skin Physiol 16:50-8. 2003
    ..These in vivo results may reflect improvement of the psoriatic skin following effective anthralin therapy...
  12. ncbi request reprint Animal model of sclerotic skin induced by bleomycin: a clue to the pathogenesis of and therapy for scleroderma?
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Clin Immunol 102:209-16. 2002
  13. ncbi request reprint Role of mast cells in dermatofibroma: recent viewpoints into the pathogenesis
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Eur J Dermatol 13:419-23. 2003
    ..Further elucidation of the role of mast cells may lend support to the understanding of the mechanism of DF...
  14. ncbi request reprint High expression and autoinduction of monocyte chemoattractant protein-1 in scleroderma fibroblasts
    T Yamamoto
    Department of Dermatology, University of Cologne, Cologne, Germany
    Eur J Immunol 31:2936-41. 2001
    ..Moreover, increased responsiveness of scleroderma fibroblasts to MCP-1 could result in a continuation of the fibrotic response...
  15. ncbi request reprint Cellular and molecular mechanisms of bleomycin-induced murine scleroderma: current update and future perspective
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Tokyo, Japan
    Exp Dermatol 14:81-95. 2005
    ..This review summarizes recent progress of the cellular and molecular events in the pathogenesis of bleomycin-induced scleroderma; moreover, further perspective by using this mouse model has been discussed...
  16. ncbi request reprint Animal model of sclerotic skin. V: Increased expression of alpha-smooth muscle actin in fibroblastic cells in bleomycin-induced scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, School of Medicine, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Clin Immunol 102:77-83. 2002
    ..Blockade of TGF-beta may be a therapeutic intervention for scleroderma...
  17. ncbi request reprint Nodular scleroderma: increased expression of connective tissue growth factor
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Japan
    Dermatology 211:218-23. 2005
    ..Recent studies suggest that connective tissue growth factor (CTGF) is involved in the fibrotic process, and its expression is increased in many fibrosing diseases...
  18. ncbi request reprint Expression of monocyte chemoattractant protein-1 in the lesional skin of systemic sclerosis
    T Yamamoto
    Department of Dermatology, University of Cologne, Joseph Stelzmann Street 9, 50924, Cologne, Germany
    J Dermatol Sci 26:133-9. 2001
    ..These findings suggest that MCP-1 plays a role in recruiting monocyte/macrophages in the lesional skin of scleroderma and that activated fibroblasts in scleroderma are involved in this process...
  19. ncbi request reprint Increased expression of TGF-beta1 in the sclerotic skin in bleomycin-'susceptible' mouse strains
    Mieko Oi
    Department of Environmental Immunodermatology, Tokyo Medical and Dental University, Post Graduate School, Japan
    J Med Dent Sci 51:7-17. 2004
    ..Thus we conclude that C3H/HeJ and B10.A mice are susceptible to bleomycin-induced scleroderma, which may be, in part, due to increased TGF-beta1 gene expression and protein production...
  20. ncbi request reprint Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome
    Eisuke Inage
    Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan
    Eur J Med Genet 53:159-61. 2010
    ..The microblepharon identified in our patient is a characteristic feature of 12p trisomy. Further patients are needed to establish the phenotypic difference between trisomy 12p and Pallister-Killian syndrome...
  21. doi request reprint Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients
    Shino Shimada
    Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
    Am J Med Genet A 161:1779-85. 2013
    ..Thus, white matter abnormalities may frequently be seen in cases of patients with additional MECP2 copies. © 2013 Wiley Periodicals, Inc...
  22. doi request reprint Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    J Hum Genet 57:593-600. 2012
    ..As the deletion regions identified in these patients extended toward centromere, we conclude that the genes responsible for delayed myelination may be located in the neighboring region of 1q43...
  23. ncbi request reprint Fas- and FasL-deficient mice are resistant to the induction of bleomycin-induced scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical University, 6 7 1 Nishi shinjuku, Shinjuku ku, Tokyo, 160 0023, Japan
    Arch Dermatol Res 298:465-8. 2007
    ..Our findings that lpr and gld mice were resistant to the induction of dermal sclerosis by bleomycin further suggest that Fas/FasL pathway is an important contributor involved in the pathophysiology of bleomycin-induced dermal sclerosis...
  24. doi request reprint A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences TIIMS, Tokyo, Japan
    J Neurol Sci 330:123-6. 2013
    ..This study showed the advantage of the SNP genotyping microarray for detecting the origin of the mutation...
  25. doi request reprint MECP2 duplication syndrome in both genders
    Shino Shimada
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    Brain Dev 35:411-9. 2013
    ..This combination of features is recognized as MECP2 duplication syndrome...
  26. ncbi request reprint Pathogenic role of CCL2/MCP-1 in scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, Fukushima Medical University, Fukushima, Japan
    Front Biosci 13:2686-95. 2008
    ..This review will focus on the roles of CCL2 and its receptor during the process of cutaneous sclerosis, and also provide a current insight into the potential mechanisms of scleroderma...
  27. ncbi request reprint Role of cytokines and proteases in murine scleroderma
    Mariko Matsushita
    Department of Dermatology, Graduate School Tokyo Medical and Dental University, Tokyo, Japan
    J Med Dent Sci 55:215-25. 2008
    ....
  28. doi request reprint CDKL5 alterations lead to early epileptic encephalopathy in both genders
    Jao Shwann Liang
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Shinjuku Ward, Tokyo, Japan
    Epilepsia 52:1835-42. 2011
    ..We investigated the clinical relevance of CDKL5 alterations in both genders...
  29. ncbi request reprint The bleomycin-induced scleroderma model: what have we learned for scleroderma pathogenesis?
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical University, 6 7 1 Nishi shinjuku, 160 0023 Tokyo, Japan
    Arch Dermatol Res 297:333-44. 2006
    ..In this review, we introduce current insights into the pathogenesis of bleomycin-induced scleroderma, and discuss its contribution to our understanding of the pathogenesis of, and treatments for, human scleroderma...
  30. doi request reprint Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6
    Toshiyuki Yamamoto
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    Am J Med Genet A 155:113-9. 2011
    ....
  31. doi request reprint Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism
    Shino Shimada
    Tokyo Women s Medical University Institute for Integrated Medical Sciences TIIMS, Tokyo, Japan
    Am J Med Genet A 161:2078-83. 2013
    ..2. Both microdeletions were de novo and paternal in origin. Further information on such concurrent chromosomal deletions should be accumulated for better understanding of the mechanism...
  32. doi request reprint Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, 8 1 Kawada cho, Shinjuku, Tokyo, Japan
    J Hum Genet 56:561-5. 2011
    ..The common phenotypic effects of all ARHGEF9 mutations were mental retardation and epilepsy. Therefore, ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy...
  33. ncbi request reprint Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)
    Keiko Shimojima
    International Research and Educational Institute for Integrated Medical Sciences IREIIMS, Tokyo Women s Medical University, Tokyo, Japan
    Brain Dev 31:629-33. 2009
    ..Compared to the previously reported patients, abnormally shaped teeth, delayed tooth eruption, and leg malformation are unique phenotypes only to this patient, which might be due to the centromeric unique deletion region with 0.8-Mb...
  34. 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...
  35. ncbi request reprint Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia
    Akihisa Okumura
    Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan
    Neuropathology 33:553-60. 2013
    ....
  36. doi request reprint A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity
    Minobu Shichiji
    Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
    Am J Med Genet A 161:850-5. 2013
    ..1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family...
  37. doi request reprint A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma
    Akihisa Okumura
    Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo ku, Tokyo, Japan
    Brain Dev 34:881-5. 2012
    ..The unusual constellation of brain malformations of our patient will widen the spectrum of epidermal nevus syndrome...
  38. ncbi request reprint Animal model of sclerotic skin. VI: Evaluation of bleomycin-induced skin sclerosis in nude mice
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, 1 5 45 Yushima, Bunkyo ku, 113 8519 Tokyo, Japan
    Arch Dermatol Res 295:453-6. 2004
  39. ncbi request reprint Serum levels of CA15-3, KL-6 and BCA225 are positively correlated with each other in the general population
    Gyokuto Ri
    International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women s Medical University, 8 1 Kawada cho, Shinjuku ku, Tokyo, 162 8666, Japan
    Anticancer Res 29:4239-42. 2009
    ..Carbohydrate antigen 15-3 (CA15-3), Kerbs von den Lungen (KL-6) and breast cancer antigen 225 (BCA225) are widely used tumor markers for breast and lung cancer respectively...
  40. doi request reprint A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    Am J Med Genet A 155:732-6. 2011
    ..We need further investigations to determine which genes are really responsible for patients' characteristic features..
  41. ncbi request reprint Chemokines and chemokine receptors in scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical University, Tokyo, Japan
    Int Arch Allergy Immunol 140:345-56. 2006
    ..This review will focus on the roles of chemokines and their receptors during the process of cutaneous sclerosis and will also provide a current insight into the potential mechanisms of scleroderma...
  42. doi request reprint A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish
    Yuta Komoike
    International Research and Educational Institute for Integrated Medical Sciences IREIIMS, Tokyo Women s Medical University, Tokyo, Japan
    J Hum Genet 55:155-62. 2010
    ..Although there were no pathogenic mutations in DLG4/PSD95 or GABARAP in a cohort study with 142 patients with idiopathic developmental delay with/without epilepsy, further studies would be required for genes included in this region...
  43. ncbi request reprint Hepatocyte growth factor both prevents and ameliorates the symptoms of dermal sclerosis in a mouse model of scleroderma
    M H Wu
    Department of Dermatology and Immunodermatology, Tokyo Medical and Dental University, Graduate School, Tokyo, Japan
    Gene Ther 11:170-80. 2004
    ..These results indicated that gene therapy by the transfection of the human HGF cDNA may thus be a useful therapy for SSc and lung fibrosis involved with SSc...
  44. ncbi request reprint De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    Am J Med Genet A 158:2272-6. 2012
    ..We consider that a positional effect is the likely explanation for this evidence. To study the precise mechanism of this positional effect, further information is required on patients showing atypical deletions neighboring MEF2C...
  45. doi request reprint Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome
    Keiko Shimojima
    Institute for Integrated Medical Sciences, Tokyo Women s Medical University, Tokyo, Japan
    Am J Med Genet A 155:2293-7. 2011
    ....
  46. doi request reprint TULIP1 (RALGAPA1) haploinsufficiency with brain development delay
    Keiko Shimojima
    International Research and Educational Institute for Integrated Medical Sciences IREIIMS, Tokyo Women s Medical University, 8 1 Kawada cho, Shinjuku Ward, Tokyo, 162 8666, Japan
    Genomics 94:414-22. 2009
    ..Tulip1 was highly expressed in zebrafish brain, and knockdown of which resulted in brain developmental delay. Therefore, we suggest that TULIP1 is a candidate gene for developmental delay...
  47. ncbi request reprint Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4
    Toshiyuki Yamamoto
    Tokyo Women s Medical University Institute for Integrated Medical Sciences TIIMS, Tokyo, Japan
    Am J Med Genet A 164:634-8. 2014
    ..Thus, the unique genotype identified in this study suggested that haploinsufficiencies of PAX6 or PRRG4 included in this region are candidate genes for severe developmental delay and autistic features characteristic of WAGR syndrome...
  48. ncbi request reprint Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement
    Kaoru Eto
    Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
    Am J Med Genet A 161:3049-56. 2013
    ..Because the constellation of such characteristic features is quite unique, clinical manifestations of the patients with microdeletions of 3p21.31 would be clinically recognizable as a contiguous gene deletion syndrome...
  49. ncbi request reprint An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities
    Toshiyuki Yamamoto
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    J Hum Genet 59:300-6. 2014
    ....
  50. doi request reprint Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Shinjuku Ward, Tokyo, Japan
    Brain Dev 34:230-3. 2012
    ..Further studies should be conducted on the phenotypic heterogeneity of FGF14 mutations and/or haploinsufficiency in SCA27 and PNKD...
  51. doi request reprint Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3
    Akihisa Okumura
    Department of Pediatrics, Juntendo University Faculty of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo, Japan
    Epilepsia 52:e66-9. 2011
    ..3-Mb duplication of 2q24.2q24.3, where at least 22 genes including a cluster of voltage-gated sodium channel genes (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A) and one noncoding RNA are located...
  52. doi request reprint STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study
    Motoko Otsuka
    Department of Pediatrics, Tokyo Women s Medical University, Shinjuku ku, Tokyo, Japan
    Epilepsia 51:2449-52. 2010
    ..This is the first case report showing that STXBP1 mutations caused West syndrome from the onset of epilepsy. STXBP1 analysis should be considered as an etiology of symptomatic West syndrome without explainable cause...
  53. ncbi request reprint Poroma with sebaceous differentiation: report of three cases
    Yuta Kurashige
    Department of Dermatology, Tokyo Medical University, Tokyo, Japan
    Australas J Dermatol 51:131-4. 2010
    ..None of them occurred in acral regions, where typical eccrine poromas predominate. The majority of cases were benign. This review indicates that some poromas may show sebaceous differentiation and be of apocrine lineage...
  54. doi request reprint Genomic copy number variations at 17p13.3 and epileptogenesis
    Keiko Shimojima
    International Research and Educational Institute for Integrated Medical Sciences IREIIMS, Tokyo Women s Medical University, Tokyo, Japan
    Epilepsy Res 89:303-9. 2010
    ..In this study, it was suggested that the identified gain or loss of genomic copy numbers within 17p13.3 result in epileptogenesis and that triplication of LIS1 can cause symptomatic West syndrome...
  55. doi request reprint Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly
    Yuta Komoike
    International Research and Educational Institute for Integrated Medical Sciences IREIIMS, Tokyo Women s Medical University, Shinjuku Ward, Tokyo, Japan
    Genesis 48:233-43. 2010
    ....
  56. doi request reprint Discoid lupus erythematosus in a patient with scleroderma and hepatitis C virus infection
    Mami Yamamoto
    Department of Dermatology, Tokyo Medical University, 6 7 1 Nishi shinjuku, Shinjuku ku, Tokyo, 160 0023, Japan
    Rheumatol Int 30:969-71. 2010
    ..Our patient was positive for hepatitis C virus infection. Racial predisposition and immune imbalance are proposed to have played a role in the development of these lesions in our case...
  57. ncbi request reprint Folliculotropic mycosis fungoides and a leonine clinical appearance of the face
    Tomonobu Ito
    Department of Dermatology, Tokyo Medical University, Tokyo, Japan
    Dermatol Online J 14:6. 2008
    ..EPOCH therapy was very effective and the lesions of the forehead and forearm showed a decrease in tumor elevation; the histology showed a precipitous decrease in the number of the atypical lymphocytes...
  58. ncbi request reprint Growth patterns of patients with 1p36 deletion syndrome
    Noriko Sangu
    Department of Oral and Maxillofacial Surgery, School of Medicine, Tokyo Women s Medical University, Tokyo, Japan Institute for Integrated Medical Sciences, Tokyo Women s Medical University, Tokyo, Japan
    Congenit Anom (Kyoto) 54:82-6. 2014
    ..The overweight patients with 1p36 deletion started excessive weight gain after two years of life. This characteristic of the patients with 1p36 deletion syndrome is similar to Prader-Willi syndrome. ..
  59. doi request reprint Pelizaeus-Merzbacher disease as a chromosomal disorder
    Toshiyuki Yamamoto
    Institute for Integrated Medical Sciences, Tokyo Women s Medical University, Tokyo, Japan
    Congenit Anom (Kyoto) 53:3-8. 2013
    ..Thus, PMD is recognized as a chromosomal disorder...
  60. pmc De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
    Toshiyuki Yamamoto
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, 8 1 Kawada cho, Shinjuku Ward, Tokyo, 162 8666, Japan
    Mol Cytogenet 6:15. 2013
    ..In the present study, we discuss the mechanism of triplications that are not embedded within duplications and potential genes which may contribute to the phenotype...
  61. doi request reprint Cutaneous manifestations associated with adult-onset Still's disease: important diagnostic values
    Toshiyuki Yamamoto
    Department of Dermatology, Fukushima Medical University, Hikarigaoka 1, Fukushima 960 1295, Japan
    Rheumatol Int 32:2233-7. 2012
    ..In this review, various skin lesions are introduced, and the complication with histiocytic necrotizing lymphadenitis (Kikuchi disease) is further discussed...
  62. doi request reprint An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease
    Shino Shimada
    Tokyo Women s Medical University Institute of Integrated Medical Sciences, Tokyo, Japan
    Am J Med Genet A 158:1771-7. 2012
    ..Some distinctive features including small palpebral fissures, bushy eyebrows, ear abnormalities, small upturned nose, downturned corners of the mouth, and micrognathia may be the common features of the patients with 14q24.3 deletions...
  63. doi request reprint Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    Eur J Med Genet 55:400-3. 2012
    ..This is the first report of a patient with PLP1 triplication caused by a DUP-TRP/INV-DUP structure. This study adds additional evidence about the consequences of PLP1 triplication...
  64. doi request reprint Endothelin receptor antagonist bosentan improves the dermal sclerosis in a patient with systemic sclerosis
    Akiko Nishibu
    Department of Dermatology, Fukushima Medical University, Fukushima, Japan
    Australas J Dermatol 53:e32-3. 2012
    ..Within a short period of administration of the bosentan the skin sclerosis improved...
  65. ncbi request reprint Vesiculo-bullous dermatomyositis: report of three cases
    Katsuyuki Nishigori
    Department of Dermatology, Tokyo Medical and Dental University, Tokyo, Japan
    Dermatol Online J 15:6. 2009
    ..Prior reports suggest that internal malignancy is much higher in patients with vesiculo-bullous DM than in those unassociated with bullous lesions. Clinicians should be aware of vesiculo-bullous type DM...
  66. ncbi request reprint Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6
    Shinichi Takatsuki
    The First Department of Pediatrics, Toho University Omori Medical Center, Tokyo, Japan
    Am J Med Genet A 152:1020-5. 2010
    ..2 showed poor outcomes because of respiratory failure. These observations suggest the possibility of a strong relationship between haploinsufficiency of ITGB6 and pulmonary dysfunction...
  67. doi request reprint Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1
    Toshiyuki Yamamoto
    International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women s Medical University, Tokyo, Japan
    Am J Med Genet A 146:1575-80. 2008
    ..Since over 50% of patients with the deletion of 16q22 region have congenital heart disease, there may be a responsible gene in this region...
  68. doi request reprint Case of acute generalized exanthematous pustulosis caused by ampicillin/cloxacillin sodium in a pregnant woman
    Yuka Matsumoto
    Department of Dermatology, Tokyo Medical University, Tokyo, Japan
    J Dermatol 35:362-4. 2008
    ..To our knowledge, this is only the second case ever reported in the Japanese language published work of AGEP induced by ABPC/MCIPC...
  69. ncbi request reprint Multiple cutaneous fibrous histiocytomas in association with systemic lupus erythematosus
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Yushima, Tokyo, Japan
    J Dermatol 32:645-9. 2005
    ..Although multiple dermatofibromas are occasionally seen in patients with SLE, benign fibrous histiocytoma of the skin showing deeper invasion than dermatofibroma is rarely associated with SLE...
  70. ncbi request reprint Glucocorticoids stimulate p21(CIP1) in mesangial cells and in anti-GBM glomerulonephritis
    Y Terada
    Second Department of Internal Medicine, Tokyo Medical and Dental University, Tokyo, Japan
    Kidney Int 59:1706-16. 2001
    ..Glucocorticoids are widely used for the treatment of glomerulonephritis, but the mechanism of cell cycle inhibition by glucocorticoids is poorly understood at a molecular level...
  71. pmc Plasminogen activator inhibitor-1 is elevated, but not essential, in the development of bleomycin-induced murine scleroderma
    M Matsushita
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Tokyo, Japan
    Clin Exp Immunol 139:429-38. 2005
    ....
  72. ncbi request reprint Cloning and characterization of the mouse tob2 gene
    R Ajima
    Department of Oncology, The Institute of Medical Science, The University of Tokyo, Minato ku, 108 8639, Tokyo, Japan
    Gene 253:215-20. 2000
    ..Collectively, Tob2 is suggested to play roles both during embryogenesis and in adults...
  73. doi request reprint Local injection of latency-associated peptide, a linker propeptide specific for active form of transforming growth factor-beta1, inhibits dermal sclerosis in bleomycin-induced murine scleroderma
    Taeko Nakamura-Wakatsuki
    Department of Dermatology, Fukushima Medical University, Fukushima, Japan
    Exp Dermatol 21:189-94. 2012
    ..Our data may have novel therapeutic implications regarding in vivo TGF-β1 inactivation in human scleroderma, and the post-transcriptional interrelationship between major fibrogenic cytokines in the autoimmune aspects of the disease...
  74. doi request reprint Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    J Hum Genet 56:810-2. 2011
    ..These results support the hypothesized mechanism of non-allelic homologous recombination with flanking LCRs and add additional evidence that many interstitial duplications are aligned as tandem configurations...
  75. ncbi request reprint Psoriasis arthropathy and HLA-B51: report of 5 cases
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Japan
    J Dermatol 32:606-10. 2005
    ..Our observations suggest that HLA-B51 may play a role in the pathogenesis of PsA in the Japanese population...
  76. ncbi request reprint Successful treatment of vulvar lichen sclerosus in a child with low-concentration topical tacrolimus ointment
    Yuka Matsumoto
    Department of Dermatology, Tokyo Medical University, Tokyo, Japan
    J Dermatol 34:114-6. 2007
    ..This is the first report of topical low-concentration tacrolimus treatment showing a dramatic effect in the treatment of childhood vulvar lichen sclerosus...
  77. doi request reprint Leukemia cutis originating in the extravasation site of i.v. gabexate mesilate infusion
    Takashi Miyakura
    Department of Dermatology, Tokyo Medical University, Tokyo, Japan
    J Dermatol 35:29-32. 2008
    ..We speculate that the gabexate mesilate might have played a role in the induction of leukemia cutis via adhesion molecules in our case...
  78. doi request reprint An atypical case of atypical lipomatous tumor
    Takashi Miyakura
    Department of Dermatology, Tokyo Medical University, Miyamoto Dermatology Clinic, Tokyo, Japan
    Am J Dermatopathol 30:590-2. 2008
    ..We considered our case to be a variant of atypical lipomatous tumor, although it did not correspond to any of the 4 atypical lipomatous tumor subgroups. There has been no recurrence to date...
  79. doi request reprint Scleroderma--pathophysiology
    Toshiyuki Yamamoto
    Department of Dermatology, Fukushima Medical University, Fukushima 960 1295, Japan
    Eur J Dermatol 19:14-24. 2009
    ....
  80. ncbi request reprint Amyloid deposition associated with generalized morphea-like scleroderma
    Koji Sumi
    Department of Environmental Immunodermatology, Tokyo Medical and Dental University Postgraduate School, Yushima 1 5 45, Bunkyo ku, Tokyo, Japan
    Eur J Dermatol 13:509-11. 2003
    ..As far as we know, amyloid deposition associated with generalized morphea-like scleroderma has not been reported until now...
  81. ncbi request reprint Localized involutional lipoatrophy: report of six cases
    Toshiyuki Yamamoto
    Department of Dermatology, Tokyo Medical and Dental University, School of Medicine, Japan
    J Dermatol 29:638-43. 2002
    ..We consider that localized involutional lipoatrophy is more common than has been reported, and is occasionally induced by local injections...
  82. ncbi request reprint Nodular cystic fat necrosis with systemic sclerosis
    Miho Toritsugi
    Department of Dermatology, Tsuchiura Kyodo General Hospital, 11 7 Manabe shinmachi, Tsuchiura City, Ibaraki 300 0053, Japan
    Eur J Dermatol 14:353-5. 2004
    ....
  83. ncbi request reprint Role of stem cell factor and monocyte chemoattractant protein-1 in the interaction between fibroblasts and mast cells in fibrosis
    T Yamamoto
    Department of Dermatology, University of Cologne, Cologne, Germany
    J Dermatol Sci 26:106-11. 2001
    ..Our data may indicate an important interaction of fibroblasts and mast cells, via SCF and MCP-1, in the induction of fibrosis...
  84. doi request reprint Proteasome-mediated degradation of Tob is pivotal for triggering UV-induced apoptosis
    T Suzuki
    Division of Oncology, Department of Cancer Biology, Institute of Medical Science, University of Tokyo, Tokyo, Japan
    Oncogene 28:401-11. 2009
    ..Thus, proteasomal clearance of Tob provides a novel p53-independent pathway for UV-induced apoptosis...
  85. doi request reprint Animal model of systemic sclerosis
    Toshiyuki Yamamoto
    Department of Dermatology, Fukushima Medical University, Fukushima 960 1295, Japan
    J Dermatol 37:26-41. 2010
    ....
  86. doi request reprint Syringocystadenoma papilliferum arising on the thigh without connection to the overlying epidermis
    Toshiyuki Yamamoto
    Department of Dermatology, Tsuchiura Kyodo General Hospital, Ibaraki, Japan
    Am J Dermatopathol 30:84-5. 2008
  87. ncbi request reprint An indication for correlation between the serum ADA level and gastric cancer risk
    Gyokuto Ri
    International Research and Educational Institute for Integrated Medical Sciences IREIIMS, Tokyo Women s Medical University, Tokyo, Japan
    Anticancer Res 30:2347-9. 2010
    ..Gastric atrophy caused by Helicobacter pylori (H. pylori) infection is a risk factor for gastric cancer. We aimed to evaluate the relationship between gastric cancer risk and tumor markers in the general population...
  88. doi request reprint A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy
    Keiko Shimojima
    Tokyo Women s Medical University Institute for Integrated Medical Sciences TIIMS, Tokyo, Japan
    Am J Med Genet A 152:2820-6. 2010
    ..Thus, the gain of the genomic copy number of this region may have epileptogenesis...
  89. ncbi request reprint Successful treatment of plasma cell cheilitis with topical tacrolimus: report of two cases
    Yuka Hanami
    Department of Dermatology, Fukushima Medical University, Fukushima, Japan
    Dermatol Online J 17:6. 2011
    ..We present herein two cases of plasma cell cheilitis, in which topical tacrolimus showed beneficial effects, suggesting that this immunomodulatory agent is a promising option for plasma cell cheilitis...
  90. 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...
  91. ncbi request reprint Changes in expression of the mouse homologues of KIAA genes after subchronic methamphetamine treatment
    H Yamamoto
    Department of Molecular Psychiatry, Tokyo Intstitute of Psychiatry, Tokyo, Japan
    Ann N Y Acad Sci 1025:92-101. 2004
    ..These data suggest that long-lasting alterations of the period-related gene expressions in the hippocampus might play an important role in methamphetamine addiction...
  92. pmc Deoxyribonuclease treatment prevents blood-borne liver metastasis of cutaneously transplanted tumour cells in mice
    S Sugihara
    First Department of Surgery, School of Medicine, Kumamoto University, Japan
    Br J Cancer 67:66-70. 1993
    ..These results suggest that DNase I could be a potential therapeutic agent used in conjunction with surgery to prevent clinical blood-borne metastasis...
  93. ncbi request reprint [A possible same genetic defect in two Niemann-Pick disease model mice]
    T Yamamoto
    Department of Pediatrics, Jikei University, School of Medicine, Tokyo
    No To Hattatsu 26:318-22. 1994
    ..These data suggest that genetic defects in NCTR-BALB/c and SPM mice are located in the same gene...
  94. pmc Vascular changes in bleomycin-induced scleroderma
    Toshiyuki Yamamoto
    Department of Dermatology, Fukushima Medical University, Hikarigaoka 1, Fukushima 960 1295, Japan
    Int J Rheumatol 2011:270938. 2011
    ..This paper makes a focus on the vascular involvement in the bleomycin-induced murine scleroderma...
  95. ncbi request reprint A novel approach to ex vivo gene therapy for familial hypercholesterolemia using human amniotic epithelial cells as a transgene carrier
    S Takahashi
    Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Tohoku J Exp Med 193:279-92. 2001
    ..The temporary nature of the metabolic improvement may be associated with xenograft rejection and transient function of the adenoviral vector...
  96. pmc Antitumour effects of streptococcal lipoteichoic acids on Meth A fibrosarcoma
    H Usami
    Applied Research Laboratories, Chugai Pharmaceutical Co, Ltd, Tokyo, Japan
    Br J Cancer 57:70-3. 1988
    ..LTA had no direct killing effects on Meth A cells. These results indicate that LTA may be an important antitumour component of OK-432 and that one of the antitumour mechanisms by this streptococcal preparation is the induction of TNF...
  97. ncbi request reprint Skeletal muscle regeneration after insulin-like growth factor I gene transfer by recombinant Sendai virus vector
    A Shiotani
    Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan
    Gene Ther 8:1043-50. 2001
    ..These results demonstrate that SeV achieves high-level transgene expression in skeletal muscle, and that hIGF-I gene transfer using SeV vector may therefore have great potential in the treatment of neuromuscular disorders...
  98. ncbi request reprint DNA demethylase is expressed in ovarian cancers and the expression correlates with demethylation of CpG sites in the promoter region of c-erbB-2 and survivin genes
    M Hattori
    Department of Obstetrics and Gynecology, Nihon University School of Medicine, 30-1, Oyaguchi, Kamimachi, Itabashi, 173-0861, Tokyo, Japan
    Cancer Lett 169:155-64. 2001
    ..The up-regulation of oncogenes may be the consequence of epigenetic control of gene expression by the dMTase...
  99. ncbi request reprint Production and secretion of nerve growth factor by clonal striated muscle cell line, G8-1
    T Yamamoto
    Department of Neuroscience, Mitsubishi Kasei Institute of Life Sciences, Tokyo, Japan
    Neurochem Int 21:251-8. 1992
    ..Finally, molecular cloning of NGF of G8-1 cells was conducted and confirmed the structure of the gene that consists of 1, 3, and 4 exons deleting exon 2. Thus, G8-1 NGF is derived from transcript B...
  100. ncbi request reprint Brain responses to acute withdrawal in phenobarbital-dependent rats
    S Tanaka
    Department of Biochemical Toxicology, School of Pharmaceutical Sciences, Showa University, 1 5 8 Hatanodai, Shinagawa, Tokyo, 142 8555, Japan
    Eur J Pharmacol 421:101-8. 2001
    ..These findings suggest that the induction of HO-1 and HSP27 during withdrawal from phenobarbital dependence may play a role in protection against glutamate toxicity...
  101. ncbi request reprint Platelet-derived growth factor is involved in the augmentation of airway responsiveness through remodeling of airways in diesel exhaust particulate-treated mice
    N Yamashita
    Department of Medicine, Teikyo University School of Medicine, Tokyo, Japan
    J Allergy Clin Immunol 107:135-42. 2001
    ..CONCLUSION: PDGF plays an important role in the process of remodeling brought about by DEP exposure in mice...