Kenji E Kenji: Influence Statistics

Kenji E Kenji

Kenji E Kenji

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.);, ...

Kenji E Kenji: Expert Impact

Concepts for which Kenji E Kenji has direct influence: Mucopolysaccharidosis iva , Mucopolysaccharidosis type , Hunter syndrome , Lipid metabolism , Patients mps , Mps iva , Newborn screening .

Kenji E Kenji: KOL impact

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

KOL Resume for Kenji E Kenji

Year
2021

Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu 501-1194, Japan;, (K.K.);, (H.S.);, (K.O.);, (H.O.)

2020

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1193, Japan;, (K.O.);, (T.F.)

2019

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.

2018

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, 501-1193, Gifu, Japan

2017

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, JapanView further author information

Division of Neonatal Intensive Care Unit, Gifu University Hospital, Gifu, Japan

2016

Gifu University Graduate School of Medicine, Gifu city, Japan

2014

Division of Neonatal Intensive Care Unit, Gifu University Hospital, Japan

2013

Gifu University, Department of Pediatrics, Gifu, Japan.

2011

NICU Preparation Division, Gifu University Hospital, Gifu, Japan

2009

Departments of Genetics and Tumor Cell Biology and

Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu 501-1194, Japan

2008

Department of Pediatrics, Graduate School of Medicine Gifu University

2007

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Yanagido 1-1, 501-1193, Gifu, Japan

2006

Department of Genetics and Tumor Cell Biology, St. Jude Children’s Research Hospital, Memphis, TN 38105; and †Department of Pediatrics, Gifu University School of Medicine, Gifu 501-1194, Japan

2003

Second Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan; and

2002

Department of Pediatrics, Gifu University School of Medicine, Gifu 500-8705, Japan

2001

Department of Pediatrics, Gifu University School of Medicine, 500-8075, Gifu, Japan

2000

Dept. of Biochemistry, Shinshu University School of Medicine, Matsumoto, Japan

1999

Department of Biochemistry and

1998

Department of Pediatrics, Gifu University School of Medicine, Gifu, Gifu 500, Japan; Fax: 81‐58‐ 265‐9011

1997

Department of Biochemistry and, Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, and, Department of Pediatrics, Gifu University School of Medicine, Gifu, Gifu (Japan)

1996

Department of Biochemistry, Shinshu University School of Medicine, Matsumoto, 390, Japan

1995

Gifu Univ, Sch Med, Dept Pediat, Tsukasa Machi 40, Gifu 500, Japan and Shinshu Univ, Sch Med, Dept Biochem, Matsumoto, Nagano 390, Japan

Prominent publications by Kenji E Kenji

KOL-Index: 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 ...
Known for Tir Domain | Structural Basis | Tertiary Receptors | Myd88 Tlr4
KOL-Index: 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 ...
Known for Heparan Sulfate | Patients Mps | Levels Blood | Throughput Mass
KOL-Index: 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 ...
Known for Hunter Syndrome | Stem Cell | Replacement Therapy | Adl Patients
KOL-Index: 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 ...
Known for Keratan Sulfate | Patients Mps | Mucopolysaccharidosis Iva | Levels Ks
KOL-Index: 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 ...
Known for Patients Mps | Dried Blood Spots | Gag Levels | Disulfated Ks
KOL-Index: 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 ...
Known for Repair Pathway | Recombination Dna | Embryonic Lethality | Nervous Development
KOL-Index: 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 ...
Known for Hbv Dna | Lamivudine Treatment | Core‐related Antigen | Clinical Evaluation
KOL-Index: 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 ...
Known for Mps Iva | Ks Blood | Gag Levels | Heparitin Sulfate
KOL-Index: 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). ...
Known for Hunter Syndrome | Enzyme Replacement Therapy | Hsct Growth | Untreated Patients
KOL-Index: 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 ...
Known for Lipid Metabolism | Coa Thioesterases | Fatty Acids | Peroxisome Proliferator
KOL-Index: 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. ...
Known for Stxbp1 Mutations | Infantile Epileptic | Proteins Mutation | West Syndrome
KOL-Index: 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 ...
Known for Hsct Mps | Hematopoietic Stem | Cell Transplantation | Patients Mucopolysaccharidoses
KOL-Index: 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 ...
Known for Mucopolysaccharidosis Iva | Keratan Sulfate | Diagnosis Mps | Morquio Syndrome
KOL-Index: 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 ...
Known for Birth Prevalence | Mps Vii | Mucopolysaccharidosis Iii | 100000 Live
KOL-Index: 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, ...
Known for Autopsied Case | Mps Iva | Multiple Tissues | Morquio Syndrome

Key People For Mucopolysaccharidosis Iva

Top KOLs in the world
#1
Tadao Tadao
mucopolysaccharidosis iva zellweger syndrome proliferative responses
#2
Shunji Tomatsu
mucopolysaccharidosis iva enzyme replacement therapy keratan sulfate
#3
Yasuyuki Suzuki
zellweger syndrome peroxisomal disorders mucopolysaccharidosis iva
#4
Adriana Maria Montaño
mucopolysaccharidosis iva enzyme replacement therapy keratan sulfate
#5
Luis Alejandro Barrera
growth plate enzyme replacement therapy mps iva
#6
Naomi Kondo
atopic dermatitis bronchial asthma food allergy

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