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 ...

Bekannt für 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 ...

Bekannt für 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: ...

Bekannt für 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 ...

Bekannt für 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 ...

Bekannt für 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 ...

Bekannt für 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 ...

Bekannt für 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 ...

Bekannt für 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 ...

Bekannt für 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 ...

Bekannt für 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. ...

Bekannt für 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, ...

Bekannt für 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 ...

Bekannt für 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. ...

Bekannt für 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 ...

Bekannt für Autopsied Case |  mps iva |  multiple tissues |  morquio syndrome |  trachea humerus

Schlüsselpersonen für Mucopolysaccharidosis Iva

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Kenji E Kenji:Expertenwirkung

Konzepte für welcheKenji E Kenjihat direkten Einfluss:Mucopolysaccharidosis iva,  Mucopolysaccharidosis type,  Hunter syndrome,  Lipid metabolism,  Patients mps,  Mps iva,  Newborn screening,  Tir domain.

Kenji E Kenji:KOL -Auswirkungen

Konzepte im Zusammenhang mit der Arbeit anderer Autoren, für diefor which Kenji E Kenji hat Einfluss: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