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  • 1
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  A candidate gene for hemochromatosis has recently been localized on the short arm of chromosome 6, about 4 megabases telomeric to the major histocompatibility complex. It encodes a protein that exhibits significant similarity to the HLA class I molecules and can be provisionally designated HLA-hc. Genotype analysis of 94 hemochromatosis patients living in France and a similar number of controls confirms that the disease is strongly associated with homozygosity at nucleotide 845 (72% of the patients and none of the controls carry two copies of the 845A variant). The data are consistent with hemochromatosis being a heterogeneous disease: about 79% of the cases in this sample would be caused by a defect in HLA-hc and 21% by an unrelated mechanism. A second variant (187 G) enriched on patient chromosomes that do not carry the 845A mutation might influence the affinity of a ligand for HLA-hc; the exact nature of this ligand remains to be discovered. The 845A variant is the best genetic marker for the disease identified to date, and the detection of 845A homozygosity should now permit diagnosis of a readily curable disease and the prevention of sometimes deadly complications in at least 72% of the patients.
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Polymorphic (CTC)n and (TAAA)n sequences were identified in exons 1 and 8 of the myelin oligodendrocyte glycoprotein (MOG) gene. The different alleles were detected by a method combining fluorescence labeling of polymerase chain reaction (PCR) products and use of an automated DNA sequencer. Although only two alleles differing by the number of leucine residues encoded by the (CTC)n array were detected at the first locus, seven alleles were identified at the second. The high degree of polymorphism (75%) of the tetranucleotide repeat makes this marker informative for association or linkage studies with diseases such as hemochromatosis or multiple sclerosis.
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  • 3
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  A Celtic origin for hemochromatosis, a common genetic iron metabolism disorder, has been postulated for a long time. To check whether the two mutations recently identified in the HLA-class I candidate gene for this disease were found only in Caucasians, we examined their frequencies in individuals originating from Algeria, Ethiopia, and Senegal. The presumably disease-causing mutation, responsible for the Cys282Tyr substitution, was not found in any member of these ethnic groups, although it was shown to be highly prevalent in populations of European ancestry. This geographic distribution supports the previously suggested Celtic origin for the disease. In contrast, the mutation responsible for the His63Asp substitution is not restricted to European populations. Although absent in the Senegalese, it was found on about 9% of the chromosomes of the Central Ethiopians and Algerians (Mzab) genotyped for this study. This second mutation, which probably represents a common variant unrelated to hemochromatosis, thus appears to have occurred earlier than that responsible for the Cys282Tyr substitution. More detailed population studies are needed to provide information on the age of these two mutations and eventually show how the hemochromatosis-causing mutation chronologically spread throughout Europe.
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  • 4
    ISSN: 1090-6487
    Keywords: 52.50.Jm ; 52.25.Jm
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract A new approach for investigation of the generation of fast ions and hot electrons inside the same plasma volume in laser-produced plasmas is proposed. It is based on the spectroscopic observation of line radiation from singly and doubly excited levels with simultaneous high spectral and spatial resolution. The experimental results demonstrate the observation of fast ions from highly charged target material inside the plasma volume and suggest that the generally accepted scaling relations are seriously invalid under certain conditions. Even at rather modest intensities ions with energies of several MeV are observed.
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  • 5
    Electronic Resource
    Electronic Resource
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 55 (1999), S. 1546-1554 
    ISSN: 1399-0047
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Notes: The structure of the homodimeric 267 kDa pyruvate:ferredoxin oxidoreductase (PFOR) of Desulfovibrio africanus was solved with data from two crystals forms, both containing two monomers per asymmetric unit. Phases were obtained from multiwavelength anomalous dispersion (MAD), solvent flattening (SF), molecular replacement (MR) using a 5 Å resolution electron-density search model, multiple isomorphous replacement (MIR) and, finally, electron-density averaging (DA) procedures. It is shown how the combination of all these techniques was used to overcome problems arising from incompleteness of MAD data and weak phasing power of MIR data. A real-space refinement (RSR) procedure is described to improve MR solutions and obtain very accurate protein envelopes and non-crystallographic symmetry (NCS) transformations from 5 Å resolution phase information. These were crucial for the phase extension to high resolution by DA methods.
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  • 6
    Electronic Resource
    Electronic Resource
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 54 (1998), S. 184-199 
    ISSN: 1399-0047
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Notes: Efficient coding (lossless) and compression (lossy) of diffraction patterns is important in protein crystallography experiments because of storage and transmission limitations. The goal is to reduce the bit-rate significantly while keeping diffraction peak intensity distortion at an acceptable level. This paper presents an overview of coding and compression techniques more or less adapted to such problems. A large part of this study is dedicated to time-frequency-transform based compression algorithms and some of their extensions. Wavelet based software has been developed and tested. Results are compared with the discrete cosine transform (DCT) and other classical algorithms. These tools seem attractive and very promising for analyzing and compressing signals with singularities and transient phenomena such as diffraction peaks. Tests were performed on a standard protein crystallography data set coming from the CCD detector of D2AM beamline at the European Synchrotron Radiation Facility at Grenoble. These were compressed with DCT and wavelet-based algorithms. It appears that alterations of the result of the processing of restored images remain very weak for compression rates up to 10. These preliminary results indicate that the proposed wavelet method is a good standard technique for efficient compression of diffraction patterns.
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Geophysical journal international 124 (1996), S. 0 
    ISSN: 1365-246X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Geosciences
    Notes: Plane-wave ray tracing has been performed through 2-D random media with Gaussian and exponential autocorrelation functions of the slowness perturbations. The standard deviation is ɛ, correlation length a and propagation distance L; computations have been performed for ɛ= 1 and 3 per cent and for L/a= 2.5 to 60. Up to L/a= 5 or 10, regular focusing and defocusing of the rays is observed. Then, irregular behaviour develops, apparently without foci, but with increasing deviations q from the straight rays of a homogeneous medium. Two neighbouring rays at the top of a rectangular cross-section usually arrive far from each other at the bottom, and rays can even turn. The standard deviation σ of q, normalized by L, is approximately σ/L=ɛ(L/a)1/2.From the traveltimes of the rays at the bottom of the cross-section, the first arrivals were determined and compared with the first arrivals according to the Huygens method of Podvin & Lecomte (1991). Both ray tracing and the Huygens method are high-frequency methods, but their traveltimes do not always agree. The reason is that the Huygens method gives first arrivals including diffractions around the slow parts of the structure, whereas ray tracing, in the sense of initial-value ray tracing, gives only transmitted rays. As a consequence, traveltimes calculated by ray tracing are systematically late with respect to the Huygens-method traveltimes. The difference becomes significant for L/a greater than 10 to 20, it increases with ɛ, and it is more pronounced for exponential than for Gaussian media. For instance, the velocity shift (with respect to the inverse of the volume average of the slowness) for an exponential medium, L/a= 60 and ɛ= 3 per cent, is –0.5 per cent according to ray tracing, whereas it is + 1.3 per cent according to the Huygens method. For ɛ= 1 per cent the corresponding numbers are 0 and +0.3 per cent, i.e. the difference between ray tracing and the Huygens method is still significant.A conclusion from our calculations is that, even in the mildly laterally heterogeneous earth models of seismic tomography, ray tracing may give traveltimes that are significantly biased, i.e. overestimated. Another result is that, in random media, ray-tracing first-arrival traveltimes often have much stronger short-scale spatial variations than Huygens-method traveltimes which include wavefront healing due to diffractions. Both effects, traveltime bias and short-scale variations, limit the applicability of ray tracing already for weak random media.
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  • 8
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 86 (1999), S. 5040-5044 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Temperature dependent Hall effect, optical admittance spectroscopy, and optical absorption measurements of semi-insulating bulk 4H–SiC are reported. Both intentionally vanadium doped material and commercial grade semi-insulating material were investigated. The carrier concentration versus inverse temperature results from Hall effect measurements up to 1000 K indicated the samples were dominated by one of two deep levels near midgap. In addition to the deep donor level of substitutional vanadium, Ec−1.6 eV, we observed another level at Ec−1.1 eV in some samples, indicating that levels other than the vanadium donor can pin the Fermi level in semi-insulating SiC. Optical admittance measurements on the semi-insulating material indicate the presence of levels at Ec−1.73 and 1.18 eV that were previously observed in conducting samples with this technique and we attribute these levels to the same defects producing the 1.1 and 1.6 eV levels seen by Hall effect. Secondary ion mass spectroscopy measurements of dopant and impurity concentrations are reported. Even though vanadium is present in all of these samples, along with other impurities we are at present unable to definitively identify the 1.1 eV level. © 1999 American Institute of Physics.
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  • 9
    Electronic Resource
    Electronic Resource
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 80 (1996), S. 7166-7168 
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: It is shown that secondary electron emission current from ferroelectric domains with opposite directions of spontaneous polarization in ferroelectric KTiOPO4 crystals (KTP) is substantially asymmetric. The effect originates from asymmetry of elementary electron processes in noncentrosymmetric crystals. A nondestructive method of ferroelectric domain observation by secondary electron emission microscopy in KTP crystals is developed, which enables observation of a domain grating in periodically poled KTP frequency doubler. © 1996 American Institute of Physics.
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  • 10
    Electronic Resource
    Electronic Resource
    Woodbury, NY : American Institute of Physics (AIP)
    Applied Physics Letters 67 (1995), S. 1941-1943 
    ISSN: 1077-3118
    Source: AIP Digital Archive
    Topics: Physics
    Notes: The origin of diversity in the reported ferroelectric phase transition (Curie) temperatures Tc, of KTiOPO4 (KTP) crystals grown from self-fluxes has been studied. A series of crystals has been grown by the top-seeded solution method from fluxes of different K/P molar ratios and solute concentrations, covering most of the KTP crystallization field in the K2O–P2O5–TiO2 ternary system. Curie temperatures of as-grown and high-temperature annealed crystals have been measured using the standard dielectric technique and found to spread from 883 to 960 °C. We show that the actual Tc values depend on the solution chemical composition, and a functional representation of this dependence is given. Inherent gradients of the Tc in as-grown KTP crystals are discussed in terms of the nonuniformity of their physical properties. © 1995 American Institute of Physics.
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