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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 29 (2004), S. 0 
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A→G transition at position 2879 in exon 10 of the DSRAD gene was detected.
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  • 2
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder with progressive hair loss starting in early childhood and aggravating at puberty. Several studies have mapped the MUHH gene to chromosome 8p21. Here we report a Chinese MUHH family with variable phenotypes. All affected individuals have anomalies affecting both hair density and hair shafts. Major clinical characteristics, disease history and histological examination support the diagnosis of MUHH, but the features of scarring in this kindred are modest and none of the patients have vertex hair loss, which is in contrast with typical MUHH. We now report genotyping and linkage analysis using 11 polymorphic microsatellite markers spanning the MUHH locus at 8p. Two-point linkage analysis using these markers revealed significant exclusion of this locus (log of the odds scores 〈 − 2) at θ = 0 indicating that there is a range of clinical presentations in MUHH, and that more than one genetic locus is responsible for the disorder.
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  • 3
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 87 (2000), S. 7354-7359 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: This article presents computation of optical gain and threshold current density in InGaN–AlGaN quantum wire and dot lasers in the presence of dislocations and surface states. The exciton binding energy including the effect of strain induced piezoelectric field is calculated to be 10–80 meV in InGaN–AlGaN quantum wires and dots, depending on the lateral and transverse dimensions. In contrast to the conventional GaAs or InP based quantum wires, these high binding energy results in large exciton densities, making optical transitions due to excitons dominant over free electrons and holes. Optical gain and threshold current density in InGaN–AlGaN based multiple quantum wire and dot lasers are computed including the effect of dislocation-induced traps. The calculated threshold current density Jth for defect free compressive-strained InGaN quantum wire (50 Å×50 Å) and dot (50 Å × 50 Å × 50 Å) lasers, realized on sapphire or SiC substrates, are shown to yield ultralow threshold current density of 233 and 88 A/cm2, respectively. In the presence of dislocations (1×1010 cm−2), the threshold current densities only increase to 924 and 623 A/cm2 for the same wire and dot, when we include the contribution of excitonic transitions. However, the corresponding values increase significantly to 30 838 and 11 647 A/cm2 if the exciton enhancement is not included. © 2000 American Institute of Physics.
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  • 4
    Electronic Resource
    Electronic Resource
    Woodbury, NY : American Institute of Physics (AIP)
    Applied Physics Letters 80 (2002), S. 1162-1164 
    ISSN: 1077-3118
    Source: AIP Digital Archive
    Topics: Physics
    Notes: A full color display with its spectra covering the entire visible color range using a single polymer is presented here. Different concentrations of poly(2,6-[4-phenylquinoline]) and poly(2,6-[p-phenylene]-4-phenylquinoline) were incorporated into silica gels via the sol–gel technique. At high concentrations, the conjugated polymers form multiple excimers in the channels within the silica network, leading to the emission of red light (∼600 nm). At low concentrations, the polymer chains are isolated and are being trapped individually in the silica domain, which results in the emission of blue light (∼400 nm). For concentrations in-between, moderate extensive chain interaction leads to the emission of green, yellow, and orange colors. Therefore, the color tunability can be achieved by simply varying the concentration of quinoline polymers in the silica glasses. © 2002 American Institute of Physics.
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  • 5
    Electronic Resource
    Electronic Resource
    Woodbury, NY : American Institute of Physics (AIP)
    Applied Physics Letters 76 (2000), S. 46-48 
    ISSN: 1077-3118
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Spectroscopic rotating-analyzer ellipsometry employing a compensator was used to measure the ellipsometric angles and depolarization from 0.73 to 5.4 eV of commercial separation by implantation of oxygen wafers. The data were analyzed to find the thicknesses of the native oxide cap, the top Si layer, and the buried oxide (BOX). From the depolarization in the spectral region of interference fringes, we determine layer thickness nonuniformities. Although a reasonable agreement between the data can be found by describing the BOX with the optical constants of thermal oxide, it can be improved by modeling the BOX as an effective medium consisting of thermal oxide and amorphous Si. The physical justification for this model is the presence of Si islands near the BOX/substrate interface. We compare our ellipsometry results with a destructive analysis using electron microscopy and secondary ion mass spectrometry. © 2000 American Institute of Physics.
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Clinical & experimental allergy 34 (2004), S. 0 
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background Remodelling of the asthmatic airway includes increased deposition of proteoglycan (PG) molecules. One of the stimuli driving airway remodelling may be excessive mechanical stimulation.Objective We hypothesized that fibroblasts from asthmatic patients would respond to excessive mechanical strain with up-regulation of message for PGs.Methods We obtained fibroblasts from asthmatic patients (AF) and normal volunteers (NF) using endobronchial biopsy. Cells were maintained in culture until the fifth passage and then grown on a flexible collagen-coated membrane. Using the Flexercell device, cells were then subjected to cyclic stretch at 30% amplitude at 1 Hz for 24 h. Control cells were unstrained. Total RNA was extracted from the cell layer and quantitative RT-PCR performed for decorin, lumican and versican mRNA.Results In unstrained cells, the expression of decorin mRNA was greater in AF than NF. With strain, NF showed increased expression of versican mRNA and AF showed increased expression of versican and decorin mRNA. The relative increase in versican mRNA expression with strain was greater in AF than NF.Conclusions These data support the hypothesis that proteoglycan message is increased in asthmatic fibroblasts subject to mechanical strain. This finding has implications for the mechanisms governing airway wall remodelling in asthma.
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Munksgaard International Publishers
    Journal of periodontal research 38 (2003), S. 0 
    ISSN: 1600-0765
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background:  Numerous studies have demonstrated that gingival overgrowth may be associated with androgen and cytokine expression in tissues.Objectives:  The aim of this study was to compare the expression of androgen receptor-presenting cells (AR+ cells) and Th1/Th2 cytokine [Th1: interleukin (IL)-2, interferon-γ (IFN-γ); Th2: IL-4, IL-10, IL-13] expression cells in tissue sections of patients with gingival overgrowth.Materials and methods:  Tissue samples were collected from patients with healthy periodontium (H group), adult periodontitis (P group), surgically extracted teeth (S group), and nifedipine-induced gingival overgrowth (NIGO group). The clinical periodontal parameters of pocket depth (PD), bleeding on probing (BOP), and plaque control record (PCR) were measured around selected sample teeth. Gingival biopsies were further processed by immunohistochemical staining method. The expressions of cells positive for AR, IL-2, IFN-γ, IL-4, IL-10, and IL-13 were counted by predetermined semiquantitative methods.Results:  Our results indicated that AR, IL-2, IFN-γ, IL-4, IL-10, and IL-13 were intensively expressed in the nuclei of inflammatory cells and fibroblasts of gingival connective tissue. Stronger expressions of AR, IL-2, and IFN-γ were found in the NIGO group. The AR+ cells/0.01 mm2 in gingival fibroblasts were significantly higher in the NIGO group (80.2 ± 10.7) than those of the periodontitis group (52.5 ± 11.8) and control group (37.4 ± 11.3) (P 〈 0.05). The cytokine expression of the NIGO group showed a trend towards Th1-type expression (IL-2; P = 0.0001). In the surgically extracted tooth group, a stronger expression of Th2-type cytokine (IL-4, Il-10, IL-13; P 〈 0.05) was found in inflammatory cells. In a comparison of the IL-2/IL-4-labeled cell ratio of the four groups, a descending sequence was discovered as NIGO group (0.92 ± 0.97) 〉 H group (0.81 ± 0.61) 〉 P group (0.77 ± 0.82) 〉 S group (0.58 ± 1.77).Conclusions:  Our data support the following: (i) taking nifedipine may elevate the expression of AR in susceptible oral tissue, e.g. gingiva; (ii) the cytokine profile of T-cells in NIGO tissue indicates a trend preferentially towards Th1 activity; and (iii) elevation of AR expression cells and prominent Th1 cytokine-labeled cells are two significant factors in the pathogenesis of NIGO.
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  • 8
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal congenital alopecia with progressive hair loss starting in early childhood and accelerating at puberty. A locus for MUHH has been mapped on chromosome 8p21 but no genes for MUHH have been identified to date.Objectives  To refine the MUHH locus to a narrow chromosome region to facilitate cloning of the gene.Methods  We performed genotyping and linkage analysis in a multigeneration Chinese family with MUHH, using 18 high-density microsatellite markers spanning the previously mapped interval at 8p21.Results  Significant evidence for linkage was observed in this region, with a maximum two-point LOD score of 3·01 (θ = 0). Haplotype analysis localized the MUHH locus within the region defined by D8S282 and D8S1839. This region overlaps by 1·1-cM with the previously reported MUHH region and represents a physical distance of about 380 kb.Conclusions  This study provides a refined map location (1·1 cM) for isolation of the gene causing MUHH. These data also indicate the existence of a common MUHH locus at 8p21.3 between affected caucasian and Chinese families.
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  • 9
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules on the extremities, which has recently been mapped to an 11·6-cM interval on chromosome 1q11–21. So far, most cases of DSH have been reported in Japan and dermatologists around the world might think this disorder mainly occurs in Japan. In fact, there are 17 DSH families including 136 cases reported in China since 1980, but most of them are described in Chinese.Objectives  To refine the previously mapped region that facilitates the identification of the DSH gene and to delineate the clinical and genetic features of Chinese DSH cases by a literature review of 136 cases reported in China.Methods  We performed genotyping and linkage analysis using polymorphic microsatellite markers at 1q11–22 in two Chinese DSH families, and reviewed all of the DSH cases reported in China since 1980.Results  A cumulative maximum two-point lod score of 3·68 was produced with marker D1S506 at a recombination frequency of θ = 0·00 in these two families. Haplotype analysis refined the DSH locus to a 9·4-cM interval flanked by D1S2343 and D1S2635. The genetic and clinical features of Chinese cases with DSH were summarized. In some Chinese cases, hyperpigmented and hypopigmented macules were scattered on the neck and chest, but among Japanese patients there were no similar skin lesions to be reported on these sites.Conclusions  This study confirms linkage of DSH to a previously mapped region and refines the DSH gene to a 9·4-cM interval at 1q21–22. Likewise, the literature review indicates that DSH is not an uncommon disorder in China and the differences in the distribution of skin lesions could be related to race and environment.
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  • 10
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The timing of the earliest habitation and oldest stone technologies in different regions of the world remains a contentious topic in the study of human evolution. Here we contribute to this debate with detailed magnetostratigraphic results on two exposed parallel sections of lacustrine ...
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