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  • Mutation  (6)
  • Polymorphism  (6)
  • FPGA  (3)
  • electrodeposition  (3)
  • Springer  (17)
  • Blackwell Publishing Ltd
  • 2000-2004  (17)
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Keywords
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Year
  • 1
    Electronic Resource
    Electronic Resource
    Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations (2000)
    Springer
    Journal of human genetics 45 (2000), S. 358-362 
    Details
    ISSN: 1435-232X
    Keywords: Key words Holocarboxylase synthetase ; Multiple carboxylase deficiency ; Biotin ; Mutation ; Microsatellite markers ; Haplotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Holocarboxylase synthetase (HCS) deficiency is a rare autosomal recessive disorder of biotin metabolism. Including three new Japanese patients we diagnosed in this study, ten Japanese families have, so far, been accumulated. In these families, the mutations 237Leu 〉 Pro (sevenalleles) and 1067delG (five alleles) were predominant; 508Arg 〉 Trp and 550Val 〉 Met mutations were identified in three families in the heterozygous form and in one patient in the homozygous form, respectively. To determine the origin of these mutations, we identified new polymorphic microsatellite markers in the HCS gene and analyzed the haplotypes of the patients. All the 237Leu 〉 Pro and the 1067delG alleles were associated with haplotype 2-2. This finding is consistent with the notion that these mutations are founder mutations in the Japanese population. Three Japanese 508Arg 〉 Trp alleles were associated with several haplotypes, including 2-3 and 1-4. The haplotype of a Taiwanese patient homozygous for the 508Arg 〉 Trp mutation was 2-3/2-3. The haplotype of one Japanese patient homozygous for the 550Val 〉 Met mutation was 1-4/1-4, whereas that of a Jewish patient with the same homozygous mutation was 2-3/2-3. Both mutations were associated with at least two haplotypes and were found in several ethnic groups. The changes 508Arg 〉 Trp and 550Val 〉 Met occurred at CpG dinucleotide. The data suggest that these two mutations represent a mutational hot-spot.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380070008
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  • 2
    Electronic Resource
    Electronic Resource
    Structured diffuse scattering, displacive flexibility and polymorphism in Ba-hexacelsian (2000)
    Springer
    Physics and chemistry of minerals 27 (2000), S. 194-202 
    Details
    ISSN: 1432-2021
    Keywords: Key words Hexacelsian ; Polymorphism ; Diffuse distribution ; Dynamical disorder ; Correlated tetrahedral rotation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Notes: Abstract  The results of a temperature-dependent electron diffraction study of the low frequency modes of distortion of Ba-hexacelsian and their relationship to the α-β polymorphic phase transition therein are presented. Cs- and Rb-doped Ba-hexacelsian specimens are also investigated. An extremely strong and characteristic diffuse intensity distribution in the form of polarized sheets of diffuse intensity perpendicular to the 〈1 1 0〉 directions is found for the high temperature polymorph and the doped specimens. The diffuse distribution appears to result from coupled tetrahedral rotation of 〈1 1 0〉 columns of corner-connected (Al,Si)O4 tetrahedra about the [0 0 1] axis (uncorrelated from column to column as a result of the positioning of the rotation axes).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002690050007
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  • 3
    Electronic Resource
    Electronic Resource
    A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia (2000)
    Springer
    Journal of human genetics 45 (2000), S. 105-108 
    Details
    ISSN: 1435-232X
    Keywords: Key words Metaphyseal chondrodysplasia Schmid type (MCDS) ; Mutation ; Type X collagen gene (COL10A1) ; Carboxyl-terminal noncollagenous (NC1) domain ; Spondylometaphyseal dysplasia (SMD) ; Type X collagenopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Metaphyseal chondrodysplasia of the Schmid type (MCDS) is a skeletal dysplasia affecting the long bone metaphyses; it is characterized by short stature, bowlegs, and coxa vara. The spine is generally not involved. Here we report a novel missense mutation of the type X collagen gene in a sporadic case of MCDS. The mutation was a heterozygous single base-pair transition of G-to-A at nucleotide 1783, which predicted a substitution of glycine by arginine at codon 595 (G595R) in the carboxyl-terminal noncollagenous domain. Interestingly, another mutation of the same codon, in which glycine is substituted by glutamic acid (G595E), was previously reported to cause spondylometaphyseal dysplasia (SMD), another group of skeletal dysplasias with involvement of the spine in addition to the long tubular bones. The novel G595R mutation identified in the present study supports the concept of type X collagenopathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050024
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  • 4
    Electronic Resource
    Electronic Resource
    Electrodeposition of cohesive carbon films on aluminum in a LiCl–KCl–K2CO3 melt (2000)
    Springer
    Journal of applied electrochemistry 30 (2000), S. 571-574 
    Details
    ISSN: 1572-8838
    Keywords: aluminum electrode ; carbon film ; electrodeposition ; molten salt
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Electrical Engineering, Measurement and Control Technology
    Notes: Abstract Electrodeposition of carbon on an aluminum electrode was studied in a LiCl–KCl–K2CO3 melt. A cyclic voltammogram for an aluminum electrode indicates that the cathodic current is due to the reduction of CO3 2− ions. Carbon films on aluminum substrates were obtained by potentiostatic electrolysis, and the cohesiveness of the films depended on the potential. SEM observations showed that the morphology of the deposited carbon film depends on the electrolytic conditions. Raman spectroscopy, XPS and XAES measurement showed that the film consisted of carbon in the sp2 state.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1003927100308
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  • 5
    Electronic Resource
    Electronic Resource
    Electrowinning of tellurium from alkaline leach liquor of cemented Te (2000)
    Springer
    Journal of applied electrochemistry 30 (2000), S. 315-322 
    Details
    ISSN: 1572-8838
    Keywords: alkaline leach liquor ; cemented Te ; electrodeposition ; electrowinning ; tellurium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Electrical Engineering, Measurement and Control Technology
    Notes: Abstract The electrochemical behaviour of tellurium in 2.5 M NaOH solution was studied for the recovery of tellurium from alkaline leach liquor of cemented Te using steady state polarization and cyclic voltammetry. The deposition characteristics and the potential range for a stable deposit of tellurium were also investigated. The morphology of deposited Te in alkaline solution showed a very porous nature and needlelike radial growth. The potential range for stable electrodeposition was between −0.8 V and −0.95 V (vs Hg/HgO electrode), but electrowinning could be carried out at more negative potentials due to the disproportionation reaction of Te2 2−. Laboratory-scale electrowinning experiments were performed under different operating voltages, temperatures and initial Te concentrations. The current efficiency was about 85–90% for 50% recovery and about 50–60% for 90% recovery. The purity of electrodeposited Te was higher than 99.95%.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1003867821601
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  • 6
    Electronic Resource
    Electronic Resource
    Lack of association between atopic asthma and polymorphisms of the histamine H1 receptor, histamine H2 receptor, and histamine N-methyltransferase genes (2000)
    Springer
    Immunogenetics 51 (2000), S. 238-240 
    Details
    ISSN: 1432-1211
    Keywords: Key words Histamine H1 receptor ; Histamine H2 receptor ; Histamine N-methyltransferase ; Polymorphism ; Atopic asthma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050037
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  • 7
    Electronic Resource
    Electronic Resource
    The impact of the CYP2D6 and CYP2C19 genotypes on venlafaxine pharmacokinetics in a Japanese population (2000)
    Springer
    European journal of clinical pharmacology 56 (2000), S. 175-180 
    Details
    ISSN: 1432-1041
    Keywords: Key words CYP2D6 ; CYP2C19 ; Polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Abstract Objective: The cytochrome P 450 isozymes CYP2D6 and CYP2C19 exhibit genetic polymorphism in human, including a marked interethnic difference. As the functional status of the isozymes CYP2D6 and CYP2C19 have an impact on the pharmacokinetics of some antidepressants, we investigated whether the disposition of venlafaxine was affected by the CYP2D6 and CYP2C19 genotypes. Methods: Twenty-eight adult Japanese men in good health participated in this study. Genomic DNA was isolated from peripheral lymphocytes, and the CYP2D6 genotype was determined using polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) analysis and XbaI-RFLP analysis. Subjects were categorized into the following four groups: group 1 CYP2D6*10/*10; group 2 CYP2D6*1/*10 and *2/*10; group 3 CYP2D6*1/*1, *1/*2 and *2/*2; and group 4 the other genotypes. Two defective CYP2C19 alleles (CYP2C19*2 and CYP2C19*3) were identified by means of PCR-RFLP analysis. Venlafaxine was administered orally following an overnight fast. Plasma concentrations of venlafaxine and O-desmethylvenlafaxine were monitored using high-performance liquid chromatography up to 24 h. Results: The peak plasma concentration and values of area under the concentration–time curve up to 24 h for venlafaxine were 298% and 453% higher for group 1 than group 3, and 91% and 120% higher for group 2 than for group 3, respectively. The homozygote for two defective alleles of CYP2C19 showed a higher concentration of venlafaxine within group 1 and group 2. Conclusion: The CYP2D6*10 allele and two CYP2C19 defective alleles, common in an Asian population, are the most likely genetic factors to use in determining interindividual differences in the pharmacokinetics of venlafaxine, although the results with respect to CYP2C19 are preliminary because of the few subjects used.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002280050737
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  • 8
    Electronic Resource
    Electronic Resource
    The role of electrostatic forces in pollination (2000)
    Springer
    Plant systematics and evolution 222 (2000), S. 133-142 
    Details
    ISSN: 1615-6110
    Keywords: Electric charges ; electrodeposition ; electrostatic pollination ; electrostatic powder coating ; flower morphology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract This paper reviews research on the role of electrostatic forces in pollination, both in natural and in agricultural systems. Researchers from various fields of biological studies have reported phenomena which they related to electrostatic forces. The theory of electrostatically mediated pollen transfer between insect pollinators and the flowers they visit is described, including recent studies which confirmed that the accumulated charges on airborne honey bees are sufficient for non-contact pollen detachment by electrostatic forces (i.e., electrostatic pollination). The most important morphological features in flower adaptiveness to electrostatic pollination were determined by means of two theoretical models of a flower exposed to an approaching charged cloud of pollen; they are style length and flower opening. Supplementary pollination by using electrostatic techniques is reported, and its possible importance in modern agriculture is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00984099
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  • 9
    Electronic Resource
    Electronic Resource
    An Approach to Minimize the Test Configuration for the Logic Cells of the Xilinx XC4000 FPGAs Family (2000)
    Springer
    Journal of electronic testing 16 (2000), S. 289-299 
    Details
    ISSN: 1573-0727
    Keywords: FPGA ; test ; ATPG ; iterative testing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Electrical Engineering, Measurement and Control Technology
    Notes: Abstract This paper describes an approach to minimize the number of test configurations for testing the logic cells of a RAM-based FPGA taking into account the configurability of such flexible device. The proposed approach concerns the XILINX 4000 family. On this example of FPGA, a bottom-up test technique is first used to generate test configurations for the elementary modules, then test configurations for a single logic cell, and finally test configurations for the m × m array of logic cells. In this bottom-up technique, it is shown that the key point is the minimization of the number of test configurations for a logic cell. An approach for the logic cell of the XILINX4000 family is then described to define a minimum number of test configurations knowing the test configurations of its logic modules. This approach gives only 5 test configurations for the XILINX4000 family while the previous published works concerning Boolean testing of this FPGA family gives 8 or 21 test configurations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1008355701933
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  • 10
    Electronic Resource
    Electronic Resource
    Testing the Local Interconnect Resources of SRAM-Based FPGA's (2000)
    Springer
    Journal of electronic testing 16 (2000), S. 513-520 
    Details
    ISSN: 1573-0727
    Keywords: VLSI ; FPGA ; test ; ATPG
    Source: Springer Online Journal Archives 1860-2000
    Topics: Electrical Engineering, Measurement and Control Technology
    Notes: Abstract This paper addresses the problem of testing the configurable modules used in the local interconnect of SRAM-based FPGAs. First, it is demonstrated that a n address bit Configurable Interface Multiplexer requires N = 2 n test configurations considering a stuck-at as well as a functional fault model. Second, a logic cell with a set of k input Configurable Interface Modules with n address bits is analyzed and it is proven that the set of CIMs can be tested in parallel making the number of required test configurations equal to N = 2 n . Third, it is shown that the complete circuit i.e. a m × m array of sets of k Configurable Interface Multiplexers with n address bits can be tested with only N = 2 n test configurations using the XOR tree and shift register structures.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1008376917755
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