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  • 2005-2009  (8)
  • 1985-1989
  • 1975-1979
  • 2005  (8)
  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Epidermodysplasia verruciformis (EV) is a genodermatosis with mainly autosomal recessive inheritance. Pathogenic mutations in two adjacent genes, EVER1 and EVER2, have recently been identified. In this study, we performed mutation detection for the EVER1 and EVER2 genes on samples from a Chinese patient with EV, who had consanguineous parents. A homozygous C→T transition at nucleotide position 568 within exon 6 of the EVER2 gene was detected. The mutation led to a premature translation termination (R190X) and the predicted protein lacked 537 amino acids. This novel nonsense mutation is, to our knowledge, the first mutation reported in Chinese patients with EV.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Hippocampal metabotropic glutamate 5 receptors (mGlu5Rs) regulate both physiological and pathological responses to glutamate. Because mGlu5R activation enhances NMDA-mediated effects, and given the role played by NMDA receptors in synaptic plasticity and excitotoxicity, modulating mGlu5R may influence both the physiological and the pathological effects elicited by NMDA receptor stimulation. We evaluated whether adenosine A2A receptors (A2ARs) modulated mGlu5R-dependent effects in the hippocampus, as they do in the striatum. Co-application of the A2AR agonist CGS 21680 with the mGlu5R agonist (RS)-2-chloro-s-hydroxyphenylglycine(CHPG) synergistically reduced field excitatory postsynaptic potentials in the CA1 area of rat hippocampal slices. Endogenous tone at A2ARs seemed to be required to enable mGlu5R-mediated effects, as the ability of CHPG to potentiate NMDA effects was antagonized by the selective A2AR antagonist ZM 241385 in rat hippocampal slices and cultured hippocampal neurons, and abolished in the hippocampus of A2AR knockout mice. Evidence for the interaction between A2ARs and mGlu5Rs was further strengthened by demonstrating their co-localization in hippocampal synapses. This is the first evidence showing that hippocampal A2ARs and mGlu5Rs are co-located and act synergistically, and that A2ARs play a permissive role in mGlu5R receptor-mediated potentiation of NMDA effects in the hippocampus.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Plant breeding 124 (2005), S. 0 
    ISSN: 1439-0523
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: A synthetic amphidiploid species Cucumis hyriviis Chen & Kirkbride (2n = 4x = 38; genome designated as HHCC) has recently been created from an interspecific mating between C. sativus L. (2n = 2x = 14: genome designated as CC) and C. hystrx. Chakr. (2n = 2x = 24; genome designated as HH). This amphidiploid is resistant to root knot nematode, tolerant to low irradiance, and has higher nutritional value than standard processing cucumber cultivars. An allotriploid (2n = 3x = 26; HCC) was derived from a cross between C. sativus L. and C. hytivus Chen & Kirkbride. Diploid meiotic behaviour in C. sativus and C. hystrix involves the development of seven and 12 metaphase bivalents respectively. In the derived allotriploid. univalents. bivalents, and trivalents (at relatively low frequency) were observed at metaphase I indicating that some homeologues from the C and H genomes can synapse. Based on a comparative karyotype analysis of cucumber (i.e. chromosome size and pairing behaviour) and aliotriploid plants, the seven bivalents observed at metaphase I were ascertained to be cucumber homologues, while the 12 univalents were of C. hystrix origin thus confirming the allotriploid karyotypic constitution to be HCC. On average, the frequency of trivalents was 0.24 at diakinesis and 0.22 in 100 meiocytes at metaphase I. indicating the possibility of genetic exchange due to the homoeology between the C and H genomes. After simultaneous cytokinesis, only polyads were observed in pollen mother cells (PMCs) at telophase II, which led to the production of sterile pollen grains. Multi-polarization of chromosomes was dominant at anaphase II. However. in about 20% PMCs. chromosomes separated to form a 7C + 1-2H complement, suggesting a possible method for the production of alien addition cucumber-C hystrix lines through further backcrossing of the allotriploid to diploid cucumber.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Clinical & experimental allergy 35 (2005), S. 0 
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background Histo-blood groups, ABO, Lewis (Le) and secretor (Se) were found to be associated with lower lung function and wheezing in coal miners as well as in asthmatic children in some studies but not others, possibly reflecting the genetic heterogeneity among different ethnicities and local environmental exposure.Objective The present study was conducted to determine the association between ABO, Lewis and secretor genetic complex with susceptibility of childhood asthma in Taiwan.Methods We randomly selected 136 asthmatic children and 161 age-matched controls from a childhood asthma survey conducted in primary schools. ABO and Lewis blood groups were determined by red blood cell agglutination methods. Analysis of Se genotype was performed by PCR with sequence-specific primers.Results There was a higher prevalence rate in secretor subjects (Se/Se) (odds ratio (OR)=1.7, confidence interval (CI)=1.022–2.938) in asthma as compared with controls. The combined effect of these three blood systems revealed that blood group O/secretor phenotype (Se/Se) (OR=2.7, CI=1.126–6.033), and blood group O/Le(a−b−) (OR=3.6, CI=1.080–11.963, P〈0.03) individuals were significantly associated with asthma. The Lewis Le(a−b−) recessive genotype (OR=3.3, CI=1.267–8.482), or the joint blood group O/Le(a−b−) phenotype (OR=5.2, CI=1.259–21.429, P〈0.02), was significantly associated with high serum IgE (〉500 IU), respectively. There was no association of these three blood systems with the sensitivity of dust mite, Dermatophagoide pteronyssinus, in our study population.Conclusions We concluded that blood group O/secretors (Se/Se) and O/Le(a−b−) were associated with childhood asthma, and may act as one of the predominant factors for environmental triggers of allergy for asthmatic children in Taiwan.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is an autosomal dominant pigmentary genodermatosis. Pathogenic mutations in the double-RNA-specific adenosine deaminase (DSRAD) gene encoding an RNA editing enzyme have recently been identified.Objectives  To identify gene mutations of DSRAD in Chinese patients with DSH.Methods  Three unrelated Chinese patients with DSH were subjected to mutation detection in DSRAD. Two had family histories of DSH. All the coding exons and their flanking sequences were amplified and sequenced.Results  All three patients had heterozygous mutations including one non-sense, one frameshift and one missense mutation in DSRAD.Conclusions  Two novel mutations, c.3169delC (p.L1057fs) and c.3247C→T (p.R1083C), and one recurrent mutation c.1420C→T (p.R474X), were found in this series of Chinese patients with DSH.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1662-9752
    Source: Scientific.Net: Materials Science & Technology / Trans Tech Publications Archiv 1984-2008
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: Semi-insulating 6H SiC substrates, 2”, 3” and 100mm in diameter, and n+ 4H SiCsubstrates, 2” and 3” in diameter, are grown at II-VI using the Advanced Physical Vapor Transport (APVT) technique [1]. The process utilizes high-purity SiC source and employs special measures aimed at the reduction of background contamination. Semi-insulating properties are achieved by precise vanadium compensation, which yields substrates with stable and uniform electrical resistivity reaching ~ 1011 Ω-cm and higher. Conductive n+ 4H SiC crystals with the spatially uniform resistivity of 0.02 W-cm are grown using nitrogen doping. Crystal quality of the substrates, their electrical properties and low temperaturephotoluminescence are discussed
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1662-9752
    Source: Scientific.Net: Materials Science & Technology / Trans Tech Publications Archiv 1984-2008
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: II-VI has developed an Advanced PVT (APVT) process for the growth ofnominally undoped (vanadium-free) semi-insulating 2” and 3” diameter 6H-SiC crystals with room temperature resistivity up to 1010 W·cm. The process utilizes high-purity SiC source and employs special measures aimed at the reduction of the impurity background. The APVT-grown material demonstrates concentrations of B and N reduced to about 2·1015cm-3. Wafer resistivity has been studied and correlated with Schottky barrier capacitance, yielding the density of deep compensating centers in 6H-SiC in the low 1015 cm-3 range for both ntypeand p-type material. The nearly equal density of deep donors and deep acceptorsndicates that the centers responsible for the intrinsic compensation can be amphoteric. TheEPR density of spins from free carbon vacancies is about 1014 cm-3. It is also hypothesized that impurity-vacancy complexes can be present in the undoped material and participate in compensation
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1434-601X
    Keywords: 21.10.Gv Mass and neutron distributions ; 21.60.Jz Hartree-Fock and random-phase approximations ; 21.10.Dr Binding energies and masses ; 27.20.+n 6 ⩽ A ⩽ 19
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract. The properties of three pairs of mirror nuclei 13N- 13C, 15N- 15O and 21Na- 21Ne (these mirror nuclei are all made of a good inert core plus an unpaired valence nucleon) are investigated by using the nonlinear relativistic mean-field (RMF) theory. It is found that the calculated binding energies with two different parameter sets are very close to the experimental ones for both the ground states and the excited states except for the large deformed nuclei. The calculations show that the 2s1/2 excited states of 15N and of 21Na are both weakly bound with a proton halo and a proton skin (or a pigmy proton skin), respectively. In addition, the 1d5/2 excited state of 13C and the 2s1/2 excited state of 15O are also weakly bound with a neutron skin, respectively. The ratio of the valence nucleon radius to matter radius is deduced and it can be regarded as an additional criterion for the existence of exotic structure. The unbound 2s1/2 and 1d5/2 excited states of 13N are also discussed.
    Type of Medium: Electronic Resource
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