Published in Int J Mol Med on September 01, 2004
Human pyruvate kinase M2: a multifunctional protein. Protein Sci (2010) 1.23
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. Mol Genet Genomic Med (2015) 0.79
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
JNK phosphorylation of 14-3-3 proteins regulates nuclear targeting of c-Abl in the apoptotic response to DNA damage. Nat Cell Biol (2005) 2.56
Pro-oxidant and cytotoxic effects of circulating heme. Blood (2002) 2.45
Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage. Cancer Sci (2004) 2.33
DYRK2 is targeted to the nucleus and controls p53 via Ser46 phosphorylation in the apoptotic response to DNA damage. Mol Cell (2007) 2.18
Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells. Mol Cell (2010) 2.09
Familial adenomatous polyposis associated with multiple endocrine neoplasia type 1-related tumors and thyroid carcinoma: a case report with clinicopathologic and molecular analyses. Am J Surg Pathol (2002) 2.05
C421A polymorphism in the human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance. Mol Cancer Ther (2002) 1.95
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
Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am J Hematol (2005) 1.65
Heme, heme oxygenase, and ferritin: how the vascular endothelium survives (and dies) in an iron-rich environment. Antioxid Redox Signal (2007) 1.55
Heme oxygenase-1 deficiency: the first autopsy case. Hum Pathol (2002) 1.53
Protein kinase C delta regulates Ser46 phosphorylation of p53 tumor suppressor in the apoptotic response to DNA damage. J Biol Chem (2005) 1.50
Genetic and histological assessment of surgical margins in resected liver metastases from colorectal carcinoma: minimum surgical margins for successful resection. Arch Surg (2002) 1.49
Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency. Genome Res (2011) 1.47
Protein kinase Cdelta is responsible for constitutive and DNA damage-induced phosphorylation of Rad9. EMBO J (2003) 1.47
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
Prognostic factors for chronic active Epstein-Barr virus infection. J Infect Dis (2003) 1.36
Propranolol for intractable diffuse lymphangiomatosis. N Engl J Med (2011) 1.32
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
Reduced levels of ATF-2 predispose mice to mammary tumors. Mol Cell Biol (2006) 1.22
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
Genome-wide gene-expression profiles of breast-cancer cells purified with laser microbeam microdissection: identification of genes associated with progression and metastasis. Int J Oncol (2004) 1.20
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia (2010) 1.19
Tolvaptan therapy for massive edema in a patient with nephrotic syndrome. Pediatr Nephrol (2013) 1.19
Propranolol as an alternative treatment option for pediatric lymphatic malformation. Tohoku J Exp Med (2013) 1.19
DYRK2 priming phosphorylation of c-Jun and c-Myc modulates cell cycle progression in human cancer cells. J Clin Invest (2012) 1.18
Human heme oxygenase-1 deficiency presenting with hemolysis, nephritis, and asplenia. J Pediatr Hematol Oncol (2011) 1.17
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res (2004) 1.16
Cell type specific infection of Epstein-Barr virus (EBV) in EBV-associated hemophagocytic lymphohistiocytosis and chronic active EBV infection. Crit Rev Oncol Hematol (2002) 1.15
Distinct cytokine profiles of systemic-onset juvenile idiopathic arthritis-associated macrophage activation syndrome with particular emphasis on the role of interleukin-18 in its pathogenesis. Rheumatology (Oxford) (2010) 1.13
Gene transfection of H25A mutant heme oxygenase-1 protects cells against hydroperoxide-induced cytotoxicity. J Biol Chem (2002) 1.13
A functional single-nucleotide polymorphism in the human cytidine deaminase gene contributing to ara-C sensitivity. Pharmacogenetics (2003) 1.13
Activation of SAPK/JNK signaling by protein kinase Cdelta in response to DNA damage. J Biol Chem (2002) 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
The deubiquitinating enzyme USP11 controls an IkappaB kinase alpha (IKKalpha)-p53 signaling pathway in response to tumor necrosis factor alpha (TNFalpha). J Biol Chem (2007) 1.09
Identification of novel deletion polymorphisms in breast cancer. Int J Oncol (2008) 1.08
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
Protein kinase C delta induces transcription of the TP53 tumor suppressor gene by controlling death-promoting factor Btf in the apoptotic response to DNA damage. Mol Cell Biol (2007) 1.08
Transforming mutations of RAC guanosine triphosphatases in human cancers. Proc Natl Acad Sci U S A (2013) 1.07
Synthesis and anti-influenza virus activity of 4-guanidino-7-substituted Neu5Ac2en derivatives. Bioorg Med Chem Lett (2002) 1.07
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
CD8alpha alpha memory effector T cells descend directly from clonally expanded CD8alpha +beta high TCRalpha beta T cells in vivo. Blood (2002) 1.06
Heme oxygenase-1 production by peripheral blood monocytes during acute inflammatory illnesses of children. Exp Biol Med (Maywood) (2003) 1.06
Severe form of encephalopathy associated with 2009 pandemic influenza A (H1N1) in Japan. J Clin Virol (2012) 1.06
Heme, heme oxygenase and ferritin in vascular endothelial cell injury. Mol Nutr Food Res (2005) 1.05
Synthesis and anti-influenza evaluation of polyvalent sialidase inhibitors bearing 4-guanidino-Neu5Ac2en derivatives. Chem Pharm Bull (Tokyo) (2003) 1.04
Familial Mediterranean fever in Japan. Medicine (Baltimore) (2012) 1.04
Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome. Blood (2005) 1.04
Synthesis and anti-influenza virus activity of 7-O-alkylated derivatives related to zanamivir. Bioorg Med Chem Lett (2002) 1.03
Reduction of NOTCH1 expression pertains to maturation abnormalities of keratinocytes in squamous neoplasms. Lab Invest (2012) 1.02
ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage. J Biol Chem (2009) 1.02
Toll-like receptor signaling is impaired in dendritic cells from patients with X-linked agammaglobulinemia. Clin Immunol (2008) 1.02
Synthesis and anti-influenza evaluation of polyvalent sialidase inhibitors bearing 4-guanidino-Neu5Ac2en derivatives. Bioorg Med Chem Lett (2002) 1.02
Sphingosine-1-phosphate receptor type 1 regulates glioma cell proliferation and correlates with patient survival. Int J Cancer (2010) 1.02
Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division. Biochem Biophys Res Commun (2007) 1.01
Identification of a predictive gene expression signature of cervical lymph node metastasis in oral squamous cell carcinoma. Cancer Sci (2007) 1.00
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. Blood (2007) 1.00
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. Hum Mutat (2004) 1.00
Distinct subsets of patients with systemic juvenile idiopathic arthritis based on their cytokine profiles. Cytokine (2012) 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
Human regulatory factor X 4 (RFX4) is a testis-specific dimeric DNA-binding protein that cooperates with other human RFX members. J Biol Chem (2001) 1.00
IL12RB2 and ABCA1 genes are associated with susceptibility to radiation dermatitis. Clin Cancer Res (2008) 0.99
Roles of interleukin-6 and parathyroid hormone-related peptide in osteoclast formation associated with oral cancers: significance of interleukin-6 synthesized by stromal cells in response to cancer cells. Am J Pathol (2009) 0.99
Tocilizumab masks the clinical symptoms of systemic juvenile idiopathic arthritis-associated macrophage activation syndrome: the diagnostic significance of interleukin-18 and interleukin-6. Cytokine (2012) 0.99
Identification and characterization of the human protein kinase-like gene NTKL: mitosis-specific centrosomal localization of an alternatively spliced isoform. Genomics (2002) 0.99
Down-regulation of keratin 4 and keratin 13 expression in oral squamous cell carcinoma and epithelial dysplasia: a clue for histopathogenesis. Histopathology (2011) 0.98
The cell death machinery governed by the p53 tumor suppressor in response to DNA damage. Cancer Sci (2010) 0.98
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
Clinical significance of cloned expansion and CD5 down-regulation in Epstein-Barr Virus (EBV)-infected CD8+ T lymphocytes in EBV-associated hemophagocytic lymphohistiocytosis. J Infect Dis (2010) 0.98
DNA damage signalling recruits RREB-1 to the p53 tumour suppressor promoter. Biochem J (2009) 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
Japanese guideline for atopic dermatitis. Allergol Int (2011) 0.96
Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. Eur J Haematol (2007) 0.95
Haem, haem oxygenase and ferritin in vascular endothelial cell injury. Nephrol Dial Transplant (2003) 0.95
Amniotic membrane transplantation in acute phase of toxic epidermal necrolysis with severe corneal involvement. Ophthalmology (2005) 0.95