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  • 1
    Publication Date: 2010-06-18
    Description: Sialic acid acetylesterase (SIAE) is an enzyme that negatively regulates B lymphocyte antigen receptor signalling and is required for the maintenance of immunological tolerance in mice. Heterozygous loss-of-function germline rare variants and a homozygous defective polymorphic variant of SIAE were identified in 24/923 subjects of European origin with relatively common autoimmune disorders and in 2/648 controls of European origin. All heterozygous loss-of-function SIAE mutations tested were capable of functioning in a dominant negative manner. A homozygous secretion-defective polymorphic variant of SIAE was catalytically active, lacked the ability to function in a dominant negative manner, and was seen in eight autoimmune subjects but in no control subjects. The odds ratio for inheriting defective SIAE alleles was 8.6 in all autoimmune subjects, 8.3 in subjects with rheumatoid arthritis, and 7.9 in subjects with type I diabetes. Functionally defective SIAE rare and polymorphic variants represent a strong genetic link to susceptibility in relatively common human autoimmune disorders.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900412/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900412/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Surolia, Ira -- Pirnie, Stephan P -- Chellappa, Vasant -- Taylor, Kendra N -- Cariappa, Annaiah -- Moya, Jesse -- Liu, Haoyuan -- Bell, Daphne W -- Driscoll, David R -- Diederichs, Sven -- Haider, Khaleda -- Netravali, Ilka -- Le, Sheila -- Elia, Roberto -- Dow, Ethan -- Lee, Annette -- Freudenberg, Jan -- De Jager, Philip L -- Chretien, Yves -- Varki, Ajit -- MacDonald, Marcy E -- Gillis, Tammy -- Behrens, Timothy W -- Bloch, Donald -- Collier, Deborah -- Korzenik, Joshua -- Podolsky, Daniel K -- Hafler, David -- Murali, Mandakolathur -- Sands, Bruce -- Stone, John H -- Gregersen, Peter K -- Pillai, Shiv -- AI 064930/AI/NIAID NIH HHS/ -- AI 068759/AI/NIAID NIH HHS/ -- AI 076505/AI/NIAID NIH HHS/ -- AR 022263/AR/NIAMS NIH HHS/ -- AR 044422/AR/NIAMS NIH HHS/ -- AR 058481/AR/NIAMS NIH HHS/ -- NS 32765/NS/NINDS NIH HHS/ -- P30 DK043351/DK/NIDDK NIH HHS/ -- R01 AI064930/AI/NIAID NIH HHS/ -- R01 AI064930-04/AI/NIAID NIH HHS/ -- R01 AI068759/AI/NIAID NIH HHS/ -- R01 AI068759-05/AI/NIAID NIH HHS/ -- R01 AI076505/AI/NIAID NIH HHS/ -- R01 AI076505-02/AI/NIAID NIH HHS/ -- R01 AR044422/AR/NIAMS NIH HHS/ -- R01 AR044422-13/AR/NIAMS NIH HHS/ -- RC1 AR058481/AR/NIAMS NIH HHS/ -- RC1 AR058481-01/AR/NIAMS NIH HHS/ -- England -- Nature. 2010 Jul 8;466(7303):243-7. doi: 10.1038/nature09115. Epub 2010 Jun 16.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20555325" target="_blank"〉PubMed〈/a〉
    Keywords: Acetylation ; Acetylesterase/*genetics/metabolism/secretion ; Alleles ; Animals ; Antibodies, Antinuclear/blood ; Arthritis, Rheumatoid/enzymology/genetics ; Autoimmune Diseases/*enzymology/*genetics ; Autoimmunity/*genetics ; B-Lymphocytes/metabolism ; Biocatalysis ; Carboxylic Ester Hydrolases/*genetics/metabolism/secretion ; Case-Control Studies ; Cell Line ; Diabetes Mellitus, Type 1/enzymology/genetics ; Europe/ethnology ; Exons/genetics ; Genetic Predisposition to Disease/*genetics ; Germ-Line Mutation/*genetics ; Humans ; Mice ; N-Acetylneuraminic Acid/*metabolism ; Odds Ratio ; Polymorphism, Single Nucleotide/genetics ; Sample Size ; Sequence Analysis, DNA
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 2
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 64 (1988), S. 2621-2624 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Ultralow-frequency (10−2–103 Hz) electrical conductivity and dielectric constant measurements have been made on single-crystal proustite at room temperature under various illumination conditions. An unusual phenomenon of frequency-dependent negative photoconductivity and negative photocapacitance was observed at very low frequencies. We believe that both these negative photoeffects can be attributed to space-charge effects and the results are interpreted using a two-layer dielectric structure model.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 67 (1990), S. 3387-3392 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: An exhaustive study of the photodielectric response of proustite at various temperatures over the frequency range 10−2–103 Hz has revealed an extremely complex series of changes. These involve both negative and positive photoeffects which appear to arise from competing processes in the sample. A model based on a two-layer dielectric system, in which one of the layers is established by space-charge buildup at the electrode, appears to explain most of the observed results.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 66 (1989), S. 5498-5504 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Measurements of the shielding effectiveness of yttrium barium cuprate have shown that at low signal amplitudes the insertion loss is significant over a wide frequency range. The performance, however, is extremely sensitive to the signal amplitude and to the presence of local static fields. The major contribution to the shielding arises from reflection at the sample surfaces due to the impedance mismatch. An absorption component also exists which is associated with energy loss processes involving the breaking of weak-link intergranular contacts which allow flux to move into and through the material. These effects are closely related to the nonlinear magnetic properties of these superconductors which also lead to the appearance of a rich harmonic content in the transmitted waveform. While these effects are not encouraging for the use of these materials as shields, the suggestion is made that they could form the basis of a new class of frequency upconverters and mixers for high-frequency communication.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: A method of obtaining absolute, direct measurements of the spatial and spectral characteristics of bremsstrahlung is discussed. This technique, called x-ray activation of nuclei (XAN) is based on the use of well-known photonuclear reactions which populate long-lived nuclear isomers. These populations sample incident photon continua at discrete excitation energies and effectively store this information for convenient retrieval following the irradiation of gram-sized targets. Recently a series of experiments has been conducted which has significantly expanded the available data for the photoexcitation of a wide range of isomers at higher energies. Thus it has become feasible to extend the use of XAN to energies approaching 4 MeV. The utility of this technique is demonstrated by the characterization of bremsstrahlung from the newly installed research linac at the University of Texas at Dallas.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Review of Scientific Instruments 64 (1993), S. 2570-2573 
    ISSN: 1089-7623
    Source: AIP Digital Archive
    Topics: Physics , Electrical Engineering, Measurement and Control Technology
    Notes: A detection system for conversion electron Mössbauer spectroscopy is described. A chevron microchannel plate assembly attached to a two-stage electrostatic lens is used to preferentially detect electrons with energies ≤15 eV. Mössbauer spectra collected with these electrons can provide information about a variety of solid-state surface phenomena.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 69 (1991), S. 420-428 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: The temperature dependent ac conductivity of single-crystal proustite measured at several frequencies over the temperature range from 82 to 467 K reveals six distinct regions associated with different conduction mechanisms. A phase transition from ionic to superionic conduction has been found to occur at a temperature of approximately 420 K. The frequency dispersion spectra obtained at different temperatures from 82 to 373 K, over the frequency range 10−2 to 103 Hz show two regions of frequency dependent conductivity. The dc conductivity and ionic hopping rate as well as the carrier densities have been extracted from the ac conductivity data. The results show that the ac conductivity of proustite is characterized by low hopping rates and high carrier densities suggesting that the Ag+ ions may execute a long range hopping motion in the lattice. The relationship between the dc and ac components of conductivity have been critically examined and the results show that the ratio σdc/σac is thermally stimulated with an activation energy nΔHm, where ΔHm is the enthalpy of ion migration, and n is the slope of the conductivity dispersion curve.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Woodbury, NY : American Institute of Physics (AIP)
    Applied Physics Letters 64 (1994), S. 1221-1223 
    ISSN: 1077-3118
    Source: AIP Digital Archive
    Topics: Physics
    Notes: The Mössbauer effect was used to investigate films of nanophase diamond (NPD) implanted with isotopically pure 57Fe at a dose of 5×1016 atoms/cm2 and an energy of 20 keV. When defects and voids created by the implantation were repaired with an overcoating layer of NPD, the recoil-free fraction at room temperature for these samples was found to be fdia=0.94±0.06 with a corresponding Debye temperature of 1140 K. This relatively high value for f makes NPD films a promising host matrix for microgram quantities of Mössbauer isotopes.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Journal of materials science 8 (1989), S. 464-466 
    ISSN: 1573-4811
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Journal of materials science 8 (1989), S. 497-500 
    ISSN: 1573-4811
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Type of Medium: Electronic Resource
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