• Disease
  • Palmoplantar
  • Palmoplantar Pustulosis
  • Toshiyuki Yamamoto

    Prominent publications by Toshiyuki Yamamoto

    KOL Index score: 20900

    STUDY QUESTION: Can preimplantation genetic testing for aneuploidy (PGT-A) improve the live birth rate and reduce the miscarriage rate in patients with recurrent pregnancy loss (RPL) caused by an abnormal embryonic karyotype and recurrent implantation failure (RIF)?

    SUMMARY ANSWER: PGT-A could not improve the live births per patient nor reduce the rate of miscarriage, in both groups.

    WHAT IS KNOWN ALREADY: PGT-A use has steadily increased worldwide. However, only a few limited studies ...

    Also Ranks for: Live Birth |  patients rpl |  pregnancy loss |  genetic testing |  recurrent implantation
    KOL Index score: 17523

    Interleukin-10 (IL-10) is a cytokine with many regulatory functions. In particular, IL-10 exerts neutralizing effect on other cytokines, and therefore IL-10 is thought to have important therapeutic implications. Recent reports suggest that IL-10 regulates not only immunocytes but also collagen and collagenase gene expression in fibroblasts. In this study, we investigated the effect of IL-10 on gene expression of extracellular matrix (ECM) proteins, such as type I collagen, fibronectin, ...

    Also Ranks for: Gene Expression |  monocyte chemoattractant |  human skin fibroblasts |  growth factor |  collagen fibronectin
    KOL Index score: 15403

    Transforming growth factor-beta is responsible for triggering a cascade of events leading to fibrosis in scleroderma. The Smads are intracellular signal transducers recently shown to mediate fibroblast activation and other profibrotic responses elicited by transforming growth factor-betain vitro. To understand better the involvement of Smads in the pathogenesis of fibrosis, we examined Smad expression and activation in situ in a murine model of scleroderma. Bleomycin injections induced ...

    Also Ranks for: Growth Factor |  smad signaling |  murine model |  sustained activation |  pathogenesis fibrosis
    KOL Index score: 15050

    BACKGROUND: Mutations of the SET binding protein 1 gene (SETBP1) on 18q12.3 have recently been reported to cause Schinzel-Giedion syndrome (SGS). As rare 18q interstitial deletions affecting multiple genes including SETBP1 correlate with a milder phenotype, including minor physical anomalies and developmental and expressive speech delay, mutations in SETBP1 are thought to result in a gain-of-function or a dominant-negative effect. However, the consequence of the SETBP1 loss-of-function ...

    Also Ranks for: Setbp1 Haploinsufficiency |  expressive language |  multiple blotting |  reduced expression |  giedion syndrome
    KOL Index score: 14875

    BACKGROUND: Mutations in SCN1A, the gene encoding the alpha1 subunit of the sodium channel, have been found in severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). Mutations in SMEI include missense, nonsense, and frameshift mutations more commonly arising de novo in affected patients. This finding is difficult to reconcile with the family history of GEFS+ in a significant proportion of patients with SMEI. Infantile spasms (IS), or West ...

    Also Ranks for: Sodium Channel |  infantile spasms |  severe myoclonic epilepsy |  mutations smei |  preschool codon
    KOL Index score: 12802

    Abstract We have recently established a mouse model for scleroderma by repeated local bleomycin treatment. In this study, we compared the susceptibility to bleomycin in the development of dermal sclerosis among Balb/c, C3H/He, C57BL/6J, A/J, DBA/2, B10.BR, B10.A, and B10.D2 mouse strains. After either bleomycin or PBS treatment, skin from the injection site was histologically examined. Dermal sclerosis was induced by bleomycin treatment for 4 weeks in all of the strains examined. In ...

    Also Ranks for: Sclerotic Skin |  animal model |  bleomycin treatment |  dermal sclerosis |  mice strains
    KOL Index score: 12547

    Mast cell infiltration and accumulation is known to occur in tissue fibrosis. Increased numbers of mast cells are detected in scleroderma or hypertrophic scar skin, however, neither the role of mast cells nor the interaction of fibroblasts and mast cells in fibrosis are fully understood. A growing body of evidence indicate that mast cells are rich source of cytokines, growth factors or chemokines, which are suggested to play an important role in the induction of fibrosis. Recent in vivo ...

    Also Ranks for: Mast Cells |  monocyte chemoattractant |  cell factor |  fibroblasts fibrosis |  mrna expression
    KOL Index score: 11894

    We have established a mouse model for scleroderma induced by repeated local injections of bleomycin (BLM). Daily injection of BLM at a dose of >10 microg per ml for 4 wk induced histologic changes of dermal sclerosis, but not fibrosis, with thickened and homogenous collagen bundles and cellular infiltrates in BALB/C mice, whereas clinical signs of scleroderma were not apparent. In addition, lung fibrosis was also induced preceding the cutaneous changes. Sclerotic changes were not found ...

    Also Ranks for: Sclerotic Skin |  animal model |  dermal sclerosis |  local injections |  inbred balb mice
    KOL Index score: 11893

    Mutations in PRRT2 genes have been identified as a major cause of benign infantile epilepsy and/or paroxysmal kinesigenic dyskinesia. We explored mutations in PRRT2 in Japanese patients with BIE as well as its related conditions including convulsion with mild gastroenteritis and benign early infantile epilepsy. We explored PRRT2 mutations in Japanese children who had had unprovoked infantile seizures or convulsion with mild gastroenteritis. The probands included 16 children with benign ...

    Also Ranks for: Prrt2 Mutation |  benign infantile epilepsy |  mild gastroenteritis |  japanese patients |  paroxysmal kinesigenic
    KOL Index score: 11831

    Reorganization of the extracellular matrix is important in many biological and pathophysiological processes, including tissue remodelling, wound healing, or cancer metastasis. The ability of cultured fibroblasts to reorganize and contract three-dimensional type I collagen gels is regarded as an in vitro model for this process. In tissue fibrosis, complex interactions among fibroblasts, inflammatory cells and the extracellular matrix are taking place. Mast cells have often been discussed ...

    Also Ranks for: Mast Cells |  cell factor |  collagen lattices |  gel contraction |  wound healing
    KOL Index score: 11583

    FOXG1 on chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal uniparental disomy of chromosome 14 and West syndrome who carried a small supernumerary marker chromosome. A chromosomal analysis revealed mosaicism of 47,XX, + mar[8]/46,XX[18]. Spectral karyotyping multicolor fluorescence in situ hybridization ...

    Also Ranks for: Chromosome 14 |  maternal uniparental disomy |  west syndrome |  infantile spasms |  situ hybridization
    KOL Index score: 11437

    Monocyte chemoattractant protein-1 (MCP-1), a member of the C-C chemokine superfamily, has recently been shown to be involved in the pathogenesis of tissue fibrosis. In vitro studies demonstrated that MCP-1 up-regulates type I collagen gene expression via endogenous production of TGF-beta in rat lung fibroblasts. We here show that recombinant human MCP-1 affects gene expression of interstitial collagenase (matrix metalloproteinase-1 (MMP-1)) in primary human skin fibroblasts and a stable ...

    Also Ranks for: Gene Expression |  monocyte chemoattractant |  matrix metalloproteinase |  human fibroblasts |  mmp1 mcp1
    KOL Index score: 11409

    Scleroderma is a connective tissue disorder with unknown etiology. Myofibroblasts appear during fibrotic processes such as scleroderma, hypertrophic scarring, and wound healing. We previously established a mouse model for scleroderma by local injections of bleomycin. To determine the phenotype of the fibroblasts in sclerotic skin after bleomycin treatment, we examined the expression of alpha-smooth muscle actin (alpha-SMA), a marker for myofibroblasts, in lesional skin as well as in ...

    Also Ranks for: Sclerotic Skin |  animal model |  increased expression |  bleomycin treatment |  dermal sclerosis
    KOL Index score: 11340

    Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by development of unusual tumor-like growths. Involvement of the brain is associated with the most problematic clinical manifestations of TSC, including intellectual retardation, epilepsy and abnormal behaviors. Until now, over 300 mutations of TSC1 and TSC2 were reported. Here, we report one novel mutation of TSC1 (Q897X) and five novel mutations of TSC2 (c.336+1 G>A, L345R, E700K, R905G, K914K) identified in ...

    Also Ranks for: Tuberous Sclerosis |  tsc2 mutations |  japanese patients |  preschool codon |  splicing error


    Toshiyuki Yamamoto: Influence Statistics

    Sample of concepts for which Toshiyuki Yamamoto is among the top experts in the world.
    Concept World rank
    ki16425treated skin controls #1
    q897x #1
    14 gene #1
    bleomycintreated skin #1
    skeletal anomalies haploinsufficiency #1
    microcephaly asd #1
    cutaneous necrobiotic #1
    hmgcl deficiency patients #1
    sclerotic skin bleomycin #1
    calcification subcutaneous tissues #1
    c900ac #1
    cask mutation siblings #1
    chromosome gjc2 #1
    habc tubb4a mutation #1
    deletions xq22 region #1
    frameshift mutation hnrnpu #1
    pair hepacam #1
    patients pustulotic #1
    hypoplasia tuba1a #1
    kcnj3 gpd2 #1
    deletion father #1
    patients epileptic encephalopathy #1
    organs etiology #1
    mutational analysis polr3a #1
    primary treatment tcell #1
    intellectual disability narg2 #1
    living siblings #1
    duplications gdi1 #1
    osteitis pao #1
    mosaic deletions 21q22qter #1
    model skin fibrosis #1
    1q242q252 #1
    epileptogenesis triplication #1
    induction induced scleroderma #1
    bleomycin alpha #1
    dhij total scores #1
    ros scleroderma #1
    klk1 haplotypes humans #1
    22q1122q1123 region #1
    ulcers pyoderma #1
    global rearrangements #1
    microdeletions additional features #1
    missense mutation plp1 #1
    antagonist lpa receptor #1
    patients 16p1311 microduplications #1
    treatments molecular pathomechanisms #1
    actb clinical features #1
    interstitial deletion 7q311q313 #1
    pure terminal deletions #1
    challenges copy variants #1

    Key People For Palmoplantar Pustulosis

    Top KOLs in the world
    Eva Hagforsen
    mast cells palmoplantar pustulosis duodenal mucosa
    Gerd Michaëlsson
    palmoplantar pustulosis mast cells patients psoriasis
    Christopher Ernest Maitland Griffiths
    patients psoriasis retinoic acid human skin
    Arthur David Burden
    pustular psoriasis biologic therapies british association
    Masamoto Murakami
    palmoplantar pustulosis atopic dermatitis antimicrobial peptides
    Jonathan N W N Barker
    atopic dermatitis langerhans cells vaccine hesitancy

    Toshiyuki Yamamoto:Expert Impact

    Concepts for whichToshiyuki Yamamotohas direct influence:Palmoplantar pustulosis,  Japanese patients,  Pyoderma gangrenosum,  Mast cells,  Psoriasis vulgaris,  Developmental delay,  Systemic sclerosis,  Psoriatic arthritis.

    Toshiyuki Yamamoto:KOL impact

    Concepts related to the work of other authors for whichfor which Toshiyuki Yamamoto has influence:Systemic sclerosis,  Moyamoya disease,  Mast cells,  Intellectual disability,  Skin fibrosis,  Corpus callosum,  Psoriatic arthritis.



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    Department of Dermatology, Fukushima Medical University, Fukushima 960-1295, Japan. | Tokyo Women’s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan | Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, J