• Disease
  • Mucopolysaccharidosis
  • Mucopolysaccharidosis Iva
  • Kenji E Kenji

    Prominent publications by Kenji E Kenji

    KOL Index score: 14884

    Myeloid differentiating factor 88 (MyD88) and MyD88 adaptor-like (Mal) are adaptor molecules critically involved in the Toll-like receptor (TLR) 4 signaling pathway. While Mal has been proposed to serve as a membrane-sorting adaptor, MyD88 mediates signal transduction from activated TLR4 to downstream components. The Toll/Interleukin-1 receptor (TIR) domain of MyD88 is responsible for sorting and signaling via direct or indirect TIR-TIR interactions between Mal and TLR4. However, the ...

    Also Ranks for: Tir Domain |  structural basis |  tertiary receptors |  myd88 tlr4 |  multiple interactions
    KOL Index score: 11646

    Mucopolysaccharidoses (MPS) are caused by deficiency of one of a group of specific lysosomal enzymes, resulting in excessive accumulation of glycosaminoglycans (GAGs). We previously developed GAG assay methods using liquid chromatography tandem mass spectrometry (LC-MS/MS); however, it takes 4-5 min per sample for analysis. For the large numbers of samples in a screening program, a more rapid process is desirable. The automated high-throughput mass spectrometry (HT-MS/MS) system ...

    Also Ranks for: Heparan Sulfate |  patients mps |  levels blood |  throughput mass |  preschool chromatography
    KOL Index score: 11453

    The aim of this study was to assess the activities of daily living (ADL) in patients with Hunter syndrome (mucopolysaccharidosis II; MPS II) using a newly designed ADL questionnaire. We applied the questionnaire to evaluate clinical phenotypes and therapeutic efficacies of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). We also explored early signs and symptoms to make early diagnosis feasible. We devised a new ADL questionnaire with three domains: ...

    Also Ranks for: Hunter Syndrome |  stem cell |  replacement therapy |  adl patients |  early hsct
    KOL Index score: 11283

    Keratan sulfate (KS) is a storage material in mucopolysaccharidosis IV (MPS IV). However, no detailed analysis has been reported on subclasses of KS: mono-sulfated KS and di-sulfated KS. We established a novel method to distinguish and quantify mono- and di-sulfated KS using liquid chromatography–tandem mass spectrometry and measured both KS levels in various specimens.Di-sulfated KS was dominant in shark cartilage and rat serum, while mono-sulfated KS was dominant in bovine cornea and ...

    Also Ranks for: Keratan Sulfate |  patients mps |  mucopolysaccharidosis iva |  levels ks |  agematched controls
    KOL Index score: 11167

    Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tandem mass spectrometry (MS/MS) have been established to measure GAGs in serum or plasma from MPS and ML patients, but few studies were performed to determine whether these ...

    Also Ranks for: Patients Mps |  dried blood spots |  gag levels |  disulfated ks |  tandem mass
    KOL Index score: 10821

    The repair of DNA double-strand breaks (DSBs) occurs via nonhomologous end-joining (NHEJ) or homologous recombination (HR). These mechanistically distinct pathways are critical for maintenance of genomic integrity and organismal survival. Although inactivation of either pathway leads to embryonic lethality, here we show selective requirements for each DNA DSB repair pathway at different stages of mammalian nervous system development. DNA damage-induced apoptosis resulting from ...

    Also Ranks for: Repair Pathway |  recombination dna |  embryonic lethality |  nervous development |  ataxia telangiectasia
    KOL Index score: 10778

    We aimed to assess the clinical performance of a newly developed chemiluminescence enzyme immunoassay (CLEIA) for the detection of hepatitis B virus (HBV) core-related antigen (HBcrAg) in patients with chronic HBV infection. A total of 82 patients with chronic HBV infection and 167 HBV-negative controls were studied. HBcrAg was measured by CLEIA with monoclonal antibodies to hepatitis B e antigen (HBeAg) and hepatitis B core antigen (HBcAg), and HBV DNA was measured by ...

    Also Ranks for: Hbv Dna |  lamivudine treatment |  core‐related antigen |  clinical evaluation |  new enzyme immunoassay
    KOL Index score: 10622

    To explore the correlation between glycosaminoglycan (GAG) levels and mucopolysaccharidosis (MPS) type, we have evaluated the GAG levels in blood of MPS II, III, IVA, and IVB and urine of MPS IVA, IVB, and VI by tandem mass spectrometry. Dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS; mono-sulfated KS, di-sulfated KS), and the ratio of di-sulfated KS in total KS were measured. Patients with untreated MPS II had higher levels of DS and HS in blood while untreated MPS III ...

    Also Ranks for: Mps Iva |  ks blood |  gag levels |  heparitin sulfate |  patients untreated
    KOL Index score: 10084

    Patients with Hunter syndrome (mucopolysaccharidosis II) present with skeletal dysplasia including short stature as well as CNS and visceral organ involvement. A previous study on Hunter syndrome indicated an impact on brain and heart involvement after hematopoietic stem cell therapy (HSCT) at an early stage but little impact after enzyme replacement therapy (ERT) (Tanaka et al 2012). Meanwhile, impact on growth in patients with Hunter syndrome treated with ERT and HSCT has not been ...

    Also Ranks for: Hunter Syndrome |  enzyme replacement therapy |  hsct growth |  untreated patients |  stem cell
    KOL Index score: 9988

    Long chain acyl-CoA esters are important intermediates in degradation and synthesis of fatty acids, as well as having important functions in regulation of intermediary metabolism and gene expression. Although the physiological functions for most acyl-CoA thioesterases have not yet been elucidated, previous data suggest that these enzymes may be involved in lipid metabolism by modulation of cellular concentrations of acyl-CoAs and fatty acids. In line with this, we have cloned four highly ...

    Also Ranks for: Lipid Metabolism |  coa thioesterases |  fatty acids |  peroxisome proliferator |  chain acyl
    KOL Index score: 9918

    PURPOSE: De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy with suppression-burst pattern (EIEE). Our aim was to delineate the clinical spectrum of subjects with STXBP1 mutations, and to examine their biologic aspects.

    METHODS: STXBP1 was analyzed in 29 and 54 cases of cryptogenic EIEE and West syndrome, respectively, as a second cohort. RNA splicing was analyzed in lymphoblastoid cells from a subject harboring a c.663 + 5G>A mutation. ...

    Also Ranks for: Stxbp1 Mutations |  infantile epileptic |  proteins mutation |  west syndrome |  clinical spectrum
    KOL Index score: 9086

    Allogenic hematopoietic stem cell transplantation (HSCT) has proven to be a viable treatment option for a selected group of patients with mucopolysaccharidoses (MPS), including those with MPS types I, II, IVA, VI, and VII. Early diagnosis and timely referral to an expert in MPS are critical, followed by a complete examination and evaluation by a multidisciplinary team, including a transplantation physician. Treatment recommendations for MPS are based on multiple biological, sociological, ...

    Also Ranks for: Hsct Mps |  hematopoietic stem |  cell transplantation |  patients mucopolysaccharidoses |  longterm outcomes
    KOL Index score: 9006

    Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone ...

    Also Ranks for: Mucopolysaccharidosis Iva |  keratan sulfate |  diagnosis mps |  morquio syndrome |  short stature
    KOL Index score: 8843

    The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. ...

    Also Ranks for: Birth Prevalence |  mps vii |  mucopolysaccharidosis iii |  100000 live |  glycosaminoglycans humans
    KOL Index score: 8205

    Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase, which results in systemic accumulation of glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. Accumulation of these GAGs causes characteristic features as disproportionate dwarfism associated with skeletal deformities, genu valgum, pigeon chest, joint laxity, and kyphoscoliosis. However, the pathological mechanism of ...

    Also Ranks for: Autopsied Case |  mps iva |  multiple tissues |  morquio syndrome |  trachea humerus


    Kenji E Kenji: Influence Statistics

    Sample of concepts for which Kenji E Kenji is among the top experts in the world.
    Concept World rank
    rapid medulloblastoma formation #5
    boxes scot #5
    region scot #5
    scot hepatocytes #5
    hedgehogsignaling regulator #5
    remaining ptch1 allele #5
    scot promoter #5
    detectable scot protein #5
    medulloblastoma inactivation #5
    characterize medulloblastoma #5
    lig4 xrcc2 #5
    scot gene expression #5
    human succinylcoa #5
    silencing scot #5
    coa scot #5
    combined lig4 xrcc2 #5
    wt ids erad #6
    mature wt ids #6
    degradation ids mutants #6
    hsct mps vii #6
    genes hadha #6
    βglucuronidase activity leukocytes #6
    mps hsp40 heat #6
    ids golgi apparatus #6
    erad ids #6
    longterm post hsct #6
    erad mps #6
    hela cells ids #6
    hsct typevii mucopolysaccharidosis #6
    ids sulfatase #6
    patient post hsct #6
    accumulated ids mutants #6
    mps erad #6
    examined accumulate #6
    typevii mucopolysaccharidosis #6
    pala619val mutation #6
    medulloblastoma disruption #6
    rescues functions #7
    ffa tkb ratio #7
    a416t mutant protein #7
    mild scot #7
    degradation ids #7
    nonketotic periods #7
    mild scot mutations #7
    wt ids #7
    mps vii hsct #7
    tkb evaluated #7
    ° r450h #7
    scot mutations #7
    manifested recurrent myalgia #7

    Key People For Mucopolysaccharidosis Iva

    Top KOLs in the world
    Tadao Tadao
    mucopolysaccharidosis iva zellweger syndrome proliferative responses
    Shunji Tomatsu
    mucopolysaccharidosis iva enzyme replacement therapy keratan sulfate
    Yasuyuki Suzuki
    zellweger syndrome peroxisomal disorders mucopolysaccharidosis iva
    Adriana Maria Montaño
    mucopolysaccharidosis iva enzyme replacement therapy keratan sulfate
    Luis Alejandro Barrera
    growth plate enzyme replacement therapy mps iva
    Naomi Kondo
    atopic dermatitis bronchial asthma food allergy

    Kenji E Kenji:Expert Impact

    Concepts for whichKenji E Kenjihas direct influence:Mucopolysaccharidosis iva,  Mucopolysaccharidosis type,  Hunter syndrome,  Lipid metabolism,  Patients mps,  Mps iva,  Newborn screening,  Tir domain.

    Kenji E Kenji:KOL impact

    Concepts related to the work of other authors for whichfor which Kenji E Kenji has influence:Mucopolysaccharidosis type,  Enzyme replacement therapy,  Dna damage,  Mps iva,  Newborn screening,  Inborn errors,  Chronic hepatitis.



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    Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan;, kubotak.gif@gmail.com, (K.K.);, sasai@gifu-u.ac.jp, (H.S.);, kenjior-gif@umin.ac.jp, (K.O.);, ohnishih@gifu-u.ac.jp, (H.O.) | Department of Pediatrics, Grad