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  • 1995-1999  (108)
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  • 1
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    Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa (1998)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1998-06-20
    Description: Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Eudy, J D -- Weston, M D -- Yao, S -- Hoover, D M -- Rehm, H L -- Ma-Edmonds, M -- Yan, D -- Ahmad, I -- Cheng, J J -- Ayuso, C -- Cremers, C -- Davenport, S -- Moller, C -- Talmadge, C B -- Beisel, K W -- Tamayo, M -- Morton, C C -- Swaroop, A -- Kimberling, W J -- Sumegi, J -- 5PO1 DC01813-05/DC/NIDCD NIH HHS/ -- DC03402/DC/NIDCD NIH HHS/ -- EY07003/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 1998 Jun 12;280(5370):1753-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9624053" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Animals ; Cell Adhesion Molecules/chemistry ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; Cochlea/chemistry ; Epidermal Growth Factor/chemistry ; Extracellular Matrix Proteins/chemistry/*genetics/physiology ; Female ; Fibronectins/chemistry ; Frameshift Mutation ; Gene Expression ; Genes, Recessive ; Glycosylation ; Hearing Loss, Sensorineural/*genetics ; Humans ; Laminin/chemistry ; Male ; Molecular Sequence Data ; Pedigree ; Retina/chemistry ; Retinitis Pigmentosa/*genetics ; Syndrome ; Tumor Cells, Cultured
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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    PAPER CURRENT
  • 2
    Electronic Resource
    Electronic Resource
    Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 585-590 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Recent genotype-phenotype correlation studies in familial hypertrophic cardiomyopathy (FHC) have revealed that some mutations in the β-myosin heavy chain (BMHC) gene may be associated with a high incidence of sudden death and a poor prognosis. Coexistence of sudden death and end-stage heart failure in several families with FHC has recently being reported; however, the genetic basis of such families has not been clearly demonstrated. A three-generation Chinese familial hypertrophic cardiomyopathy (FHC) family (family HL I) with two cases of end-stage heart failure and three cases of sudden death was analyzed. The average age of death in the affected members in this family was 34 years old. Genetic linkage analysis using polymorphisms in the α- and β-myosin heavy chain genes revealed that FHC in this family is significantly linked to the BMHC gene without recombinations. Single-strand conformation polymorphism analysis of exons 8, 9 and 13 to 23 in the BMHC gene showed a polymorphic band on exon 14 that is in complete linkage with the disease status in this family. DNA sequencing analysis in the affected members revealed an 453Arg→Cys mutation in the BMHC gene. To our knowledge this is the first reported mutation of FHC in Chinese. Our data suggest that the 453Arg→Cys mutation is associated with a malignant clinical course in FHC due not only to sudden death but also to end-stage heart failure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02281865
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  • 3
    Electronic Resource
    Electronic Resource
    Theoretical study of thermal diffusivity of superlattices in measurements using “mirage” technique (1995)
    Springer
    Applied physics 61 (1995), S. 441-446 
    Details
    ISSN: 1432-0630
    Keywords: 44.50.+f ; 68.65.+g
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: Abstract A complete theoretical treatment for the determination of thermal diffusivity of superlattices by the “mirage” technique has been performed. An effective “medium approximation” model of the thermal conductivity and thermal diffusivity of both sublayers is presented, which is different from the simple models with the thermal diffusivity or thermal conductivity in series or parallel. The numerical calculation of the transverse component of the probe beam deflection in the “mirage” effect shows that the results obtained from the complete thermal-wave theory and the “medium approximation” model, for the optically and thermally thick superlattices, are in good agreement with each other. However, the further study on the thermally thin superlattices shows that either the series or the parallel model of the thermal conductivity should be chosen according to whether the thermal impedance of the superlattice is larger or less than that of substrate, respectively.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01540121
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  • 4
    Electronic Resource
    Electronic Resource
    On the low resistance Au/Ge/Pd ohmic contact to n-GaAs (1996)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 79 (1996), S. 4211-4215 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: We report that a Au/Ge/Pd layered structure can result in low contact resistivities (∼10−6 Ω cm2) to n-GaAs processed in three temperature ranges (175–200, 340–350, and 425–450 °C). The contacts processed below the Au–Ge eutectic temperature (361 °C) show good surface and interface morphology, thermal stability, Au wire bondability, and reproducibility. The ohmic contact formation mechanisms are also presented. © 1996 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.361788
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  • 5
    Electronic Resource
    Electronic Resource
    Ohmic contact formation mechanism of the Au/Ge/Pd/n-GaAs system formed below 200 °C (1996)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 79 (1996), S. 4216-4220 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: We report the ohmic contact formation mechanism of the low resistance (∼1×10−6 Ω cm2) Au/Ge/Pd contact to n-GaAs annealed at 175 °C. Cross-sectional transmission electron microscopy and Rutherford backscattering spectrometry were utilized in this study. It is found that the solid phase regrowth process, interdiffusion between Au and Ge, and the enhancement of the conductivity of the excess Ge layer are responsible for the observed low contact resistivity. © 1996 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.361789
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  • 6
    Electronic Resource
    Electronic Resource
    Formation of amorphous interlayers by solid-state diffusion in Ti thin films on epitaxial Si–Ge layers on silicon and germanium (1995)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 78 (1995), S. 6539-6542 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: The formation of amorphous interlayers (a-interlayers) by solid-state diffusion in ultrahigh-vacuum-deposited polycrystalline Ti thin film on germanium and epitaxial Si1−xGex (x=0.3, 0.4, and 0.7) alloys grown on (001)Si has been investigated by transmission electron microscopy and Auger electron spectroscopy. Amorphous interlayers, less than 2 nm in thickness, were observed to form in all as-deposited samples. The growth of the a-interlayers was found to vary nonmonotonically with the composition of Si–Ge alloys in annealed samples. On the other hand, the formation temperature of crystalline phase was found to decrease with the Ge content. The results are compared with those of the Ti/Si system. © 1995 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.360474
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  • 7
    Electronic Resource
    Electronic Resource
    High power operation of first and second harmonic gyrotwystrons (1995)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 78 (1995), S. 550-559 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: We report the first experimental operation of overmoded first and second harmonic gyrotwystron amplifier configurations. Both devices utilize a single cavity which is driven near 9.87 GHz in the TE011 mode, heavily attenuated drift tubes, and long tapered output waveguide sections. A magnetron injection gun produces a 460 kV, 245 A beam with a maximum average perpendicular-to-parallel velocity ratio approximately equal to one. The axial magnetic field profile is sharply tapered in the output section. Peak powers above 21 MW are achieved in 1 μs pulses with an efficiency exceeding 22% and a large signal gain near 24 dB in the first harmonic tube. The second harmonic tube achieves nearly 12 MW of the peak power with an efficiency of 11% and a gain above 21 dB. First harmonic amplifier performance is limited principally by competition from a fundamental mode output waveguide interaction; the second harmonic tube is limited by both travelling wave output modes and by a down-taper oscillation. © 1995 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.360639
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  • 8
    Electronic Resource
    Electronic Resource
    Formation of extended defects in silicon by high energy implantation of B and P (1996)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 80 (1996), S. 2105-2112 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: The extended defects induced in silicon by high energy implantation (1.5 MeV B and 2.6 MeV P) have been investigated by plan-view and cross-sectional transmission electron microscopy studies and defect etching measurements. The threading dislocations were identified to be long dislocation dipoles generated in the region of the ion projected range which grew up to the surface. The formation of threading dislocations is shown to have a strong dependence on the implantation dose and O concentration. After 900 °C annealing, a high density of threading dislocations was formed for B and P implants in a dose range of 5×1013–2×1014 cm−2 and 5×1013–3×1014 cm−2, respectively. The threading dislocation density in B-implanted Czochralski Si substrates was found to be much higher than that in B-implanted epitaxial Si substrates. This difference is attributed to the strong pinning effect of oxygen immobilizing dislocations in Czochralski substrates. Because P impurities are also efficient at pinning dislocation motion in Si, a high density of threading dislocations was observed even in epitaxial Si substrates with P implantation. Two-step annealing with a first step at 700 °C (to precipitate oxygen) and a second step at 900 °C was found to be very effective at eliminating the formation of threading dislocations. © 1996 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.363103
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  • 9
    Electronic Resource
    Electronic Resource
    Multimedia Benchmarking Analysis for Three Risk Assessment Models: RESRAD, MMSOILS, and MEPAS (1997)
    Oxford, UK : Blackwell Publishing Ltd
    Risk analysis 17 (1997), S. 0 
    Details
    ISSN: 1539-6924
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Energy, Environment Protection, Nuclear Power Engineering
    Notes: This paper is one in a series that describes results of a benchmarking analysis initiated by the Department of Energy (DOE) and the United States Environmental Protection Agency (EPA). An overview of the study is provided in a companion paper by Laniak et al. presented in this journal issue. The three models used in the study—RESRAD (DOE), MMSOILS (EPA), and MEPAS (DOE)—represent analytically-based tools that are used by the respective agencies for performing human exposure and health risk assessments. Both single media and multimedia benchmarking scenarios were developed and executed. In this paper, the multimedia scenario is examined. That scenario consists of a hypothetical landfill that initially contained uranium-238 and methylene chloride. The multimedia models predict the fate of these contaminants, plus the progeny of uranium-238, through the unsaturated zone, saturated zone, surface water, and atmosphere. Carcinogenic risks are calculated from exposure to the contaminants via multiple pathways. Results of the tests show that differences in model endpoint estimates arise from both differences in the models’ mathematical formulations and assumptions related to the implementation of the scenarios.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1539-6924.1997.tb00858.x
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  • 10
    Electronic Resource
    Electronic Resource
    Quantitative theory for laser-generated Lamb waves in orthotropic thin plates (1999)
    Woodbury, NY : American Institute of Physics (AIP)
    Applied Physics Letters 74 (1999), S. 2087-2089 
    Details
    ISSN: 1077-3118
    Source: AIP Digital Archive
    Topics: Physics
    Notes: A quantitative theory for modeling the laser-generated transient ultrasonic Lamb waves propagating along arbitrary directions in orthotropic thin plates is presented by employing an expansion method of the generalized Lamb wave modes. The displacement is expressed by a summation of the symmetric and antisymmetric modes in the surface stress-free orthotropic plate, and it is particularly appropriate for wave form analyses of Lamb wave in thin plates because one needs only to evaluate a few of the lowest order modes. The transient wave forms are analyzed in the thermoelastic regime and the oil coating generation method for a transversely isotropic plate. The results show that the theory provides a quantitative analysis to characterize anisotropic properties and elastic stiffness properties of the orthotropic plates by the laser-generated Lamb wave detection. © 1999 American Institute of Physics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.123766
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