Published in Arerugi on November 01, 2009
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development. Proc Natl Acad Sci U S A (2006) 1.77
Structural basis for the multiple interactions of the MyD88 TIR domain in TLR4 signaling. Proc Natl Acad Sci U S A (2009) 1.65
Autoantibodies and cell-mediated autoimmunity to NMDA-type GluRepsilon2 in patients with Rasmussen's encephalitis and chronic progressive epilepsia partialis continua. Epilepsia (2005) 1.65
Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan. Brain Dev (2003) 1.48
A treatable new cause of chorea: beta-ketothiolase deficiency. Mov Disord (2013) 1.47
Proton magnetic resonance spectroscopy in a case of subacute sclerosing panencephalitis. J Child Neurol (2002) 1.44
The structure and binding mode of interleukin-18. Nat Struct Biol (2003) 1.42
Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. J Biol Chem (2002) 1.41
Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency. Proc Natl Acad Sci U S A (2009) 1.37
Propranolol for intractable diffuse lymphangiomatosis. N Engl J Med (2011) 1.32
Identification of a novel basic helix-loop-helix-PAS factor, NXF, reveals a Sim2 competitive, positive regulatory role in dendritic-cytoskeleton modulator drebrin gene expression. Mol Cell Biol (2004) 1.31
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet (2009) 1.28
Roles of anti-hemagglutinin IgA and IgG antibodies in different sites of the respiratory tract of vaccinated mice in preventing lethal influenza pneumonia. Vaccine (2003) 1.23
Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. Biochemistry (2007) 1.22
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia (2010) 1.19
Propranolol as an alternative treatment option for pediatric lymphatic malformation. Tohoku J Exp Med (2013) 1.19
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res (2004) 1.16
Interferon-gamma interferes with transforming growth factor-beta signaling through direct interaction of YB-1 with Smad3. J Biol Chem (2003) 1.11
Differences between human and rodent pancreatic islets: low pyruvate carboxylase, atp citrate lyase, and pyruvate carboxylation and high glucose-stimulated acetoacetate in human pancreatic islets. J Biol Chem (2011) 1.11
Defining the pathway for Tat-mediated delivery of beta-glucuronidase in cultured cells and MPS VII mice. Mol Ther (2005) 1.10
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol (2012) 1.08
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet (2003) 1.08
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet (2002) 1.07
Severe form of encephalopathy associated with 2009 pandemic influenza A (H1N1) in Japan. J Clin Virol (2012) 1.06
Amino acid copolymer-specific IL-10-secreting regulatory T cells that ameliorate autoimmune diseases in mice. Proc Natl Acad Sci U S A (2008) 1.04
Toll-like receptor signaling is impaired in dendritic cells from patients with X-linked agammaglobulinemia. Clin Immunol (2008) 1.02
Promoting tolerance to proteolipid protein-induced experimental autoimmune encephalomyelitis through targeting dendritic cells. Proc Natl Acad Sci U S A (2010) 1.01
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. Hum Mutat (2004) 1.00
Early sensitization to house dust mite is a major risk factor for subsequent development of bronchial asthma in Japanese infants with atopic dermatitis: results of a 4-year followup study. Ann Allergy Asthma Immunol (2002) 1.00
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay. Mol Genet Metab (2012) 0.98
Japanese guideline for food allergy. Allergol Int (2011) 0.98
Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase. Hum Mol Genet (2003) 0.97
Y-box-binding protein YB-1 mediates transcriptional repression of human alpha 2(I) collagen gene expression by interferon-gamma. J Biol Chem (2002) 0.96
Japanese guideline for atopic dermatitis. Allergol Int (2011) 0.96
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. Pediatr Res (2004) 0.94
Evaluation of ADL in patients with Hunter disease using FIM score. Brain Dev (2007) 0.93
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab (2008) 0.93
High resolution crystal structures of human cytosolic thiolase (CT): a comparison of the active sites of human CT, bacterial thiolase, and bacterial KAS I. J Mol Biol (2005) 0.93
A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet Metab (2008) 0.93
A novel single-nucleotide substitution, Leu 467 Pro, in the interferon-gamma receptor 1 gene associated with allergic diseases. Int J Mol Med (2003) 0.92
Bacterial meningitis and septicemia of neonate due to Lactococcus lactis. Pediatr Int (2011) 0.91
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet (2003) 0.91
Reversible cerebrospinal fluid edema and porencephalic cyst, a rare complication of ventricular catheter. J Clin Neurosci (2010) 0.91
Escherichia coli O-157-induced hemolytic uremic syndrome: Usefulness of SCWP score for the prediction of neurological complication. Pediatr Int (2009) 0.90
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab (2009) 0.90
Functional characterization of basic helix-loop-helix-PAS type transcription factor NXF in vivo: putative involvement in an "on demand" neuroprotection system. J Biol Chem (2008) 0.90
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn (2004) 0.90
Treatment with OK-432 for persistent congenital chylothorax in newborn infants resistant to octreotide. J Pediatr Surg (2009) 0.90
A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet Metab (2010) 0.89
Successful treatment of neonatal herpes simplex-type 1 infection complicated by hemophagocytic lymphohistiocytosis and acute liver failure. Tohoku J Exp Med (2008) 0.89
Lower succinyl-CoA:3-ketoacid-CoA transferase (SCOT) and ATP citrate lyase in pancreatic islets of a rat model of type 2 diabetes: knockdown of SCOT inhibits insulin release in rat insulinoma cells. Arch Biochem Biophys (2010) 0.89
Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene. Adv Exp Med Biol (2003) 0.89
Japanese pediatric guideline for the treatment and management of bronchial asthma 2012. Pediatr Int (2014) 0.88
Peroxisomal acyl CoA oxidase deficiency. J Pediatr (2002) 0.88
Progressive multifocal leukoencephalopathy in a patient with X-linked agammaglobulinemia. Scand J Infect Dis (2003) 0.88
Clinical improvement of diffuse lymphangiomatosis with pegylated interferon alfa-2b therapy: case report and review of the literature. Pediatr Hematol Oncol (2007) 0.88
Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides. Genomics (2002) 0.88
Generation of highly stable IL-18 based on a ligand-receptor complex structure. Biochem Biophys Res Commun (2004) 0.88
Selective pontine hypoplasia: a possible common feature in 5p monosomy syndrome. Brain Dev (2010) 0.88
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Brain Dev (2003) 0.88
Optimized gene synthesis and high expression of human interleukin-18. Protein Expr Purif (2003) 0.87
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Mol Genet Metab (2010) 0.87
Site-directed mutagenesis of the ATM promoter: consequences for response to proliferation and ionizing radiation. Genes Chromosomes Cancer (2003) 0.87
TRAM is involved in IL-18 signaling and functions as a sorting adaptor for MyD88. PLoS One (2012) 0.87