Search Results - "Shimadzu, M."
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Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations
Published in Neurology (23-01-2001)“…Spastic paraplegia is not widely recognized to occur in dopa-responsive dystonia (DRD). The authors found a compound heterozygote for novel mutations of the…”
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Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma
Published in Journal of the American Society of Nephrology (01-04-2001)“…Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease involving short stature, isolated pRTA, mental…”
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3
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
Published in Neurology (22-09-1999)“…To determine the mechanism leading to striatal dopamine (DA) loss in dopa-responsive dystonia (DRD). Although mutations in the gene GCH1, coding for the…”
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Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
Published in Neurology (01-04-1998)“…We evaluated the influence of gender on penetrance of GTP-cyclohydrolase I (GCH) gene mutations in hereditary progressive dystonia/dopa-responsive dystonia…”
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Estimation of plasma and saliva levels of coenzyme Q10 and influence of oral supplementation
Published in BioFactors (Oxford) (2005)“…Coenzyme Q10 (CoQ10) levels in human saliva were measured by HPLC with a highly sensitive electrochemical detector (ECD) and a special concentration column…”
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Comparison of gyrA and parC mutations and resistance levels among fluoroquinolone-resistant isolates and laboratory-derived mutants of oral streptococci
Published in Journal of antimicrobial chemotherapy (01-06-2000)“…Laboratory-derived fluoroquinolone-resistant mutants were obtained by serial passage of Streptococcus sanguis and Streptococcus anginosus isolates on agar…”
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Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities
Published in Journal of the American Society of Nephrology (01-08-2005)“…Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. However, little has been…”
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Molecular and biochemical aspects of hereditary progressive and dopa-responsive dystonia
Published in Advances in neurology (1998)Get more information
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9
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities
Published in Nature genetics (01-11-1999)Get full text
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10
Use of DNA microarray analysis in diagnosis of bacterial and fungal endophthalmitis
Published in Clinical ophthalmology (Auckland, N.Z.) (01-01-2012)“…To examine the utility of DNA microarray analysis for identifying causative microorganisms in endophthalmitis. Thirteen samples of vitreous fluid (VF) were…”
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Detection of HER-2/neu (c-erb B-2) DNA amplification in primary breast carcinoma: Interobserver reproducibility and correlation with immunohistochemical HER-2 overexpression
Published in Cancer (15-12-2001)“…Fluorescent in situ hybridization (FISH) has been shown to be one of the most reliable methods with which to estimate the status of the HER-2/neu (or c-erb…”
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Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis
Published in Pflügers Archiv (01-07-2004)“…Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease with isolated pRTA, short stature and ocular…”
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Corrigendum
Published in Clinical ophthalmology (Auckland, N.Z.) (05-07-2012)“…321-326. The following sentence on page 322 was incorrect in the published paper:"This study was performed in accordance with the Helsinki Declaration of 1975…”
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Development of multi-drug resistant mutants of clinical isolates of Pseudomonas aeruginosa after exposure to fluoroquinolone
Published in Kansenshōgaku zasshi (01-02-1996)“…Eight multi-drug resistant mutants (4.94%) were found in 162 clinical isolates of P. aeruginosa after exposure to norfloxacin at different concentrations (1/4,…”
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Anti-ulcer effect of steroidal alkaloids extracted from Pachysandra terminalis
Published in Planta medica (01-02-1986)Get more information
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16
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
Published in Human genetics (01-01-1999)“…The pattern of X-chromosome inactivation in females is currently evaluated by assays of differential methylation in the genes between the active and the…”
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Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine
Published in Proceedings of the National Academy of Sciences - PNAS (07-09-2010)“…Homozygous mutations in SLC4A4, encoding the electrogenic Na(+)-HCO(3)(-) cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA)…”
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Neutropenia in patient with X-linked hyper-IgM syndrome
Published in Rinshō ketsueki (01-10-1995)“…The X-linked form of hyper-IgM syndrome (HIGM1) is a rare disorder characterized by the inability of B cells to undergo isotype switch by a deficiency of CD40…”
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Quality control and monitoring for the isolation process of mesenchymal stem cells and their differentiation into osteoblasts
Published in Genetic testing and molecular biomarkers (01-04-2010)“…We developed a method of quality control and monitoring for the isolation of mesenchymal stem cells (MSCs) from bone marrow and their differentiation into…”
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Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG
Published in Biochimica et biophysica acta (01-03-2006)“…Hyper-IgM syndrome type 1 (HIGM1) is a primary immunodeficiency characterized by recurrent bacterial and opportunistic infections, associated with normal or…”
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