PubRank

Shigeru Tsuchiya

Author PubWeight™ 93.43‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007 7.07
2 Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006 4.75
3 Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J Exp Med 2009 2.08
4 A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 2010 1.97
5 Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab 2007 1.75
6 Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am J Hematol 2005 1.65
7 The analysis of the functions of human B and T cells in humanized NOD/shi-scid/gammac(null) (NOG) mice (hu-HSC NOG mice). Int Immunol 2009 1.59
8 Somatotopic distribution of peri-rolandic spikes may predict prognosis in pediatric-onset epilepsy with sensorimotor seizures. Clin Neurophysiol 2010 1.48
9 Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int 2010 1.46
10 Prognostic factors for chronic active Epstein-Barr virus infection. J Infect Dis 2003 1.36
11 Risk-stratified therapy and the intensive use of cytarabine improves the outcome in childhood acute myeloid leukemia: the AML99 trial from the Japanese Childhood AML Cooperative Study Group. J Clin Oncol 2009 1.26
12 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 2007 1.18
13 Functional and physical interactions between ERCC1 and MSH2 complexes for resistance to cis-diamminedichloroplatinum(II) in mammalian cells. DNA Repair (Amst) 2004 1.14
14 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat 2010 1.08
15 Defective IL-10 signaling in hyper-IgE syndrome results in impaired generation of tolerogenic dendritic cells and induced regulatory T cells. J Exp Med 2011 1.06
16 Lentiviral vector-mediated gene transfer in T cells from Wiskott-Aldrich syndrome patients leads to functional correction. Mol Ther 2004 1.06
17 Octa-arginine mediated delivery of wild-type Lnk protein inhibits TPO-induced M-MOK megakaryoblastic leukemic cell growth by promoting apoptosis. PLoS One 2011 1.05
18 HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 2010 1.03
19 All-trans retinoic acid induces in vitro angiogenesis via retinoic acid receptor: possible involvement of paracrine effects of endogenous vascular endothelial growth factor signaling. Endocrinology 2006 1.01
20 A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. Epilepsia 2012 1.01
21 Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J Exp Med 2005 1.00
22 Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol 2006 0.99
23 A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. Am J Med Genet A 2006 0.99
24 Phage phiC31 integrase-mediated genomic integration of the common cytokine receptor gamma chain in human T-cell lines. J Gene Med 2006 0.98
25 Connective tissue growth factor is overexpressed in muscles of human muscular dystrophy. J Neurol Sci 2007 0.97
26 Maternal feeding controls fetal biological clock. PLoS One 2008 0.96
27 Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families. Hum Genet 2003 0.95
28 Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan. Brain Dev 2009 0.95
29 Treatment responses of childhood aplastic anaemia with chromosomal aberrations at diagnosis. Br J Haematol 2002 0.95
30 A further case of renal tubular dysgenesis surviving the neonatal period. Eur J Pediatr 2008 0.94
31 Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. J Hum Genet 2006 0.94
32 Quality assessment of umbilical cord blood units at the time of transplantation. Int J Hematol 2011 0.91
33 Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol 2011 0.91
34 Intramuscular renin-angiotensin system is activated in human muscular dystrophy. J Neurol Sci 2009 0.90
35 Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice. PLoS One 2012 0.90
36 Differential proliferation rhythm of neural progenitor and oligodendrocyte precursor cells in the young adult hippocampus. PLoS One 2011 0.90
37 The nutrient formula containing eicosapentaenoic acid and docosahexaenoic acid benefits the fatty acid status of patients receiving long-term enteral nutrition. Tohoku J Exp Med 2009 0.89
38 The uterus sustains stable biological clock during pregnancy. Tohoku J Exp Med 2010 0.88
39 Altered distribution of KCC2 in cortical dysplasia in patients with intractable epilepsy. Epilepsia 2007 0.88
40 Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. J Hum Genet 2010 0.88
41 Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. J Hum Genet 2007 0.87
42 Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Hum Mutat 2010 0.87
43 Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study. J Neurol Sci 2008 0.86
44 Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia. Leuk Res 2012 0.85
45 Prospective study of a therapeutic regimen with all-trans retinoic acid and anthracyclines in combination of cytarabine in children with acute promyelocytic leukaemia: the Japanese childhood acute myeloid leukaemia cooperative study. Br J Haematol 2011 0.85
46 Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency. Tohoku J Exp Med 2012 0.84
47 Refractory chronic immune thrombocytopenic purpura in a child with acute lymphoblastic leukemia. Int J Hematol 2009 0.84
48 Efficacy of sumatriptan in two pediatric cases with abdominal pain-related functional gastrointestinal disorders: does the mechanism overlap that of migraine? J Child Neurol 2009 0.83
49 Sensorimotor seizures of pediatric onset with unusual posteriorly oriented rolandic spikes. Epilepsy Res 2009 0.83
50 The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum. Tohoku J Exp Med 2007 0.83
51 Comprehension of implicit meanings in social situations involving irony: a functional MRI study. Neuroimage 2007 0.82
52 Olfactory stimulation using black pepper oil facilitates oral feeding in pediatric patients receiving long-term enteral nutrition. Tohoku J Exp Med 2008 0.82
53 T-cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation. J Allergy Clin Immunol 2013 0.81
54 Vincristine-resistant Kasabach-Merritt phenomenon successfully treated with low-dose radiotherapy. Int J Hematol 2010 0.81
55 A case series of CAEBV of children and young adults treated with reduced-intensity conditioning and allogeneic bone marrow transplantation: a single-center study. Eur J Haematol 2013 0.81
56 Utility of subtraction ictal SPECT images in detecting focal leading activity and understanding the pathophysiology of spasms in patients with West syndrome. Epilepsy Res 2008 0.81
57 Cell-cycle-dependent oscillation of GATA2 expression in hematopoietic cells. Blood 2007 0.81
58 Hypospadias in a male patient with 21-hydroxylase deficiency. Endocr J 2008 0.80
59 Reduced levels of interleukin-1 receptor antagonist in the cerebrospinal fluid in patients with West syndrome. Epilepsy Res 2009 0.80
60 Eosinophilic pustular folliculitis occurring after bone marrow transplantation in a child with aplastic anaemia. Acta Derm Venereol 2009 0.80
61 Abdominal migraine associated with ecchymosis of the legs and buttocks: does the symptom imply an unknown mechanism of migraine? Tohoku J Exp Med 2010 0.80
62 Unique discrepancy between cerebral blood flow and glucose metabolism in hemimegalencephaly. Epilepsy Res 2010 0.80
63 A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient. Hum Mutat 2006 0.79
64 Liposome-encapsulated hemoglobin (hemoglobin-vesicle) is not transferred from mother to fetus at the late stage of pregnancy in the rat model. Life Sci 2012 0.79
65 Successful nonmyeloablative bone marrow transplantation for leukocyte adhesion deficiency type I from an unrelated donor. Int J Hematol 2007 0.79
66 Elevated plasma levels of tissue inhibitors of metalloproteinase-1 and their overexpression in muscle in human and mouse muscular dystrophy. J Neurol Sci 2010 0.79
67 Evaluation of hematological reconstitution potential of autologous peripheral blood progenitor cells cryopreserved by a simple controlled-rate freezing method. Tohoku J Exp Med 2005 0.79
68 Application of HSVtk suicide gene to X-SCID gene therapy: ganciclovir treatment offsets gene corrected X-SCID B cells. Biochem Biophys Res Commun 2006 0.78
69 Successful treatment with sumatriptan in a case with cyclic vomiting syndrome combined with 18q- syndrome. J Child Neurol 2009 0.78
70 Beta-phenylethylamine inhibits K+ currents in neocortical neurons of the rat: a possible mechanism of beta-phenylethylamine-induced seizures. Tohoku J Exp Med 2008 0.78
71 Chloride-dependent intracellular pH regulation via extracellular calcium-sensing receptor in the medullary thick ascending limb of the mouse kidney. Tohoku J Exp Med 2006 0.78
72 Consensus guideline for diagnosis and treatment of childhood idiopathic thrombocytopenic purpura. Int J Hematol 2006 0.77
73 Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome. Pediatr Transplant 2013 0.77
74 B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID. Int J Hematol 2013 0.77
75 Neonatal-onset brainstem reticular reflex myoclonus following a prenatal brain insult: generalized myoclonic jerk and a brainstem lesion. Tohoku J Exp Med 2007 0.77
76 Gestational length affects a change in the transepithelial voltage and the rNKCC2 expression pattern in the ascending thin limb of Henle's loop. Pediatr Res 2007 0.77
77 Post-transplantation lymphoproliferative disorder in living-donor liver transplantation: a single-center experience. Surg Today 2012 0.77
78 Residual effect of a 7-amino metabolite of clonazepam on GABAA receptor function in the nucleus reticularis thalami of the rat. Epilepsia 2008 0.76
79 Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. Epilepsy Res 2009 0.76
80 Copper-trafficking efficacy of copper-pyruvaldehyde bis(N4- methylthiosemicarbazone) on the macular mouse, an animal model of Menkes disease. Pediatr Res 2012 0.76
81 Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. Epilepsia 2009 0.76
82 Neural correlates of processing situational relationships between a part and the whole: an fMRI study. Neuroimage 2009 0.76
83 Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study. J Child Neurol 2009 0.76
84 Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency. Int J Hematol 2004 0.76
85 Quality evaluation of umbilical cord blood progenitor cells cryopreserved with a small-scale automated liquid nitrogen system. Cryobiology 2008 0.76
86 Reduced exposure to mercury in patients receiving enteral nutrition. Tohoku J Exp Med 2006 0.76
87 Fludarabine- and cyclophosphamide-based nonmyeloablative conditioning regimen for transplantation of chronic granulomatous disease: possible correlation with prolonged pure red cell aplasia. Int J Hematol 2004 0.76
88 X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling. J Korean Med Sci 2004 0.75
89 Gene therapy model of X-linked severe combined immunodeficiency using a modified foamy virus vector. PLoS One 2013 0.75
90 Consensus JH gene probes with conjugated 3'-minor groove binder for monitoring minimal residual disease in acute lymphoblastic leukemia. J Mol Diagn 2005 0.75
91 A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency. Pediatr Int 2005 0.75
92 A Unique Immunofluorescence Method Promotes Accurate Diagnosis in MYH9 Disorders: A Case Report. J Pediatr Hematol Oncol 2004 0.75
93 [A case of bipolar I disorder with autistic disorder showing "waiting-for-instruction" as a depressive symptom]. No To Hattatsu 2010 0.75
94 Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl. Am J Med Genet A 2012 0.75
95 Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: a case report. J Child Neurol 2009 0.75
96 Restless legs syndrome: a unique case of relapse after traffic accidents with a long remission. Sleep Med 2010 0.75
97 Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages. Pediatr Transplant 2011 0.75
98 [Molecular pathogenesis of Wiskott-Aldrich syndrome]. Nihon Rinsho Meneki Gakkai Kaishi 2005 0.75
99 [High dose of enzyme replacement therapy was successful for the pulmonary involvement in a case of type 2 Gaucher disease]. No To Hattatsu 2010 0.75
100 A simple controlled-rate freezing method without a rate-controlled programmed freezer provides optimal conditions for both large-scale and small-scale cryopreservation of umbilical cord blood cells. Transfusion 2003 0.75
101 [Waiting-for-Instruction behavior as depressive symptom in mentally retarded autistic children and adolescents and its treatment]. No To Hattatsu 2009 0.75
102 The absolute number of peripheral blood CD34+ cells predicts a timing for apheresis and progenitor cell yield in patients with hematologic malignancies and solid tumors. Tohoku J Exp Med 2003 0.75
103 [Clinical features of Japanese pediatric patients with anti-aquaporin 4 antibody]. No To Hattatsu 2011 0.75
104 [Case of a pharyngeal-cervical-brachial variant of Guillain-Barré syndrome without pharyngeal palsy]. No To Hattatsu 2011 0.75
105 The first infant case with hepatosplenic gammadelta T-cell lymphoma after acute disseminated encephalomyelitis (ADEM)-like exacerbation. J Pediatr Hematol Oncol 2006 0.75
106 A female case of West syndrome with remission of spasms following multiple cerebral hemorrhages. Brain Dev 2010 0.75
107 A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report. J Pediatr Hematol Oncol 2004 0.75
108 Quality of umbilical cord blood CD34+ cells in a double-compartment freezing bag cryopreserved without a rate-controlled programmed freezer. Int J Hematol 2007 0.75
109 Utility of thallium-201 scintigraphy in Tolosa-Hunt syndrome. Tohoku J Exp Med 2013 0.75
110 Predictive value of the original content of CD34(+) cells for enrichment of hematopoietic progenitor cells from bone marrow harvests by the apheresis procedure. J Clin Apher 2006 0.75
111 Calcium and calcimimetics regulate paracellular Na+ transport in the thin ascending limb of Henle's loop in mouse kidney. Pflugers Arch 2010 0.75