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  • 1
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    Inherited copper deficiency delays prion disease [Immunology] (2012)
    National Academy of Sciences
    Details
    Publication Date: 2012-08-22
    Description: Copper influences the pathogenesis of prion disease, but whether it is beneficial or detrimental remains controversial. Copper homeostasis is also essential for normal physiology, as highlighted by the spectrum of diseases caused by disruption of the copper transporting enzymes ATP7A and ATP7B. Here, by using a forward genetics approach in...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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  • 2
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    The clustering of galaxies in the SDSS-III Baryon Oscillation Spectroscopic Survey: measuring growth rate and geometry with anisotropic clustering (2014)
    Oxford University Press
    Details
    Publication Date: 2014-03-25
    Description: We use the observed anisotropic clustering of galaxies in the Baryon Oscillation Spectroscopic Survey Data Release 11 CMASS sample to measure the linear growth rate of structure, the Hubble expansion rate and the comoving distance scale. Our sample covers 8498 deg 2 and encloses an effective volume of 6 Gpc 3 at an effective redshift of $\bar{z} = 0.57$ . We find f 8  = 0.441 ± 0.044, H  = 93.1 ± 3.0 km s –1 Mpc –1 and D A  = 1380 ± 23 Mpc when fitting the growth and expansion rate simultaneously. When we fix the background expansion to the one predicted by spatially flat cold dark matter (CDM) model in agreement with recent Planck results, we find f 8  = 0.447 ± 0.028 (6 per cent accuracy). While our measurements are generally consistent with the predictions of CDM and general relativity, they mildly favour models in which the strength of gravitational interactions is weaker than what is predicted by general relativity. Combining our measurements with recent cosmic microwave background data results in tight constraints on basic cosmological parameters and deviations from the standard cosmological model. Separately varying these parameters, we find w  = –0.983 ± 0.075 (8 per cent accuracy) and  = 0.69 ± 0.11 (16 per cent accuracy) for the effective equation of state of dark energy and the growth rate index, respectively. Both constraints are in good agreement with the standard model values of w  = –1 and  = 0.554.
    Print ISSN: 0035-8711
    Electronic ISSN: 1365-2966
    Topics: Physics
    Published by Oxford University Press
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  • 3
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    The clustering of galaxies in the SDSS-III Baryon Oscillation Spectroscopic Survey: cosmological implications of the full shape of the clustering wedges in the data release 10 and 11 galaxy samples (2014)
    Oxford University Press
    Details
    Publication Date: 2014-04-11
    Description: We explore the cosmological implications of the angle-averaged correlation function, ( s ), and the clustering wedges, ( s ) and || ( s ), of the LOWZ and CMASS galaxy samples from Data Releases 10 and 11 of the Sloan Digital Sky Survey III (SDSS-III) Baryon Oscillation Spectroscopic Survey. Our results show no significant evidence for a deviation from the standard cold dark matter model. The combination of the information from our clustering measurements with recent data from the cosmic microwave background is sufficient to constrain the curvature of the Universe to k  = 0.0010 ± 0.0029, the total neutrino mass to m  〈 0.23 eV (95 per cent confidence level), the effective number of relativistic species to N eff  = 3.31 ± 0.27 and the dark energy equation of state to w DE  = –1.051 ± 0.076. These limits are further improved by adding information from Type Ia supernovae and baryon acoustic oscillations from other samples. In particular, this data set combination is completely consistent with a time-independent dark energy equation of state, in which case we find w DE  = –1.024 ± 0.052. We explore the constraints on the growth rate of cosmic structures assuming f ( z ) =  m ( z ) and obtain  = 0.69 ± 0.15, consistent with the predictions of general relativity of  = 0.55.
    Print ISSN: 0035-8711
    Electronic ISSN: 1365-2966
    Topics: Physics
    Published by Oxford University Press
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  • 4
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    Gaucher disease: new molecular approaches to diagnosis and treatment (1992)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1992-05-08
    Description: Gaucher disease is characterized by the accumulation of glucocerebroside, leading to enlargement of the liver and spleen and lesions in the bones. It is caused by an inherited deficiency of the enzyme glucocerebrosidase. Many mutations exist, but four of these account for over 97% of the mutations in Ashkenazi Jews, the population group in which Gaucher disease is the most common. Although there is a strong relation between the mutations and disease manifestations, genetic counseling is made difficult by the fact that within each genotype there is considerable variability in the severity of the disease. Intravenous infusion of glucocerebrosidase is an effective treatment, but the availability of enzyme replacement therapy is limited by its high cost. Marrow transplantation is also effective in treating the disease, but is rarely performed because of the risks involved. In the future gene transfer may become the treatment of choice.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Beutler, E -- DK36639/DK/NIDDK NIH HHS/ -- RR00833/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 1992 May 8;256(5058):794-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular, Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1589760" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Crossing Over, Genetic ; Gaucher Disease/diagnosis/*genetics/therapy ; Gene Frequency ; Glucosylceramidase/*genetics ; Humans ; Molecular Sequence Data ; *Mutation
    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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  • 5
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    The serine protease TMPRSS6 is required to sense iron deficiency (2008)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2008-05-03
    Description: Hepcidin, a liver-derived protein that restricts enteric iron absorption, is the key regulator of body iron content. Several proteins induce expression of the hepcidin-encoding gene Hamp in response to infection or high levels of iron. However, mechanism(s) of Hamp suppression during iron depletion are poorly understood. We describe mask: a recessive, chemically induced mutant mouse phenotype, characterized by progressive loss of body (but not facial) hair and microcytic anemia. The mask phenotype results from reduced absorption of dietary iron caused by high levels of hepcidin and is due to a splicing defect in the transmembrane serine protease 6 gene Tmprss6. Overexpression of normal TMPRSS6 protein suppresses activation of the Hamp promoter, and the TMPRSS6 cytoplasmic domain mediates Hamp suppression via proximal promoter element(s). TMPRSS6 is an essential component of a pathway that detects iron deficiency and blocks Hamp transcription, permitting enhanced dietary iron absorption.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430097/" 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/PMC2430097/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Du, Xin -- She, Ellen -- Gelbart, Terri -- Truksa, Jaroslav -- Lee, Pauline -- Xia, Yu -- Khovananth, Kevin -- Mudd, Suzanne -- Mann, Navjiwan -- Moresco, Eva Marie Y -- Beutler, Ernest -- Beutler, Bruce -- AI054523/AI/NIAID NIH HHS/ -- DK53505-09/DK/NIDDK NIH HHS/ -- R01 DK053505-09/DK/NIDDK NIH HHS/ -- U54 AI054523/AI/NIAID NIH HHS/ -- U54 AI054523-019005/AI/NIAID NIH HHS/ -- New York, N.Y. -- Science. 2008 May 23;320(5879):1088-92. doi: 10.1126/science.1157121. Epub 2008 May 1.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18451267" target="_blank"〉PubMed〈/a〉
    Keywords: Anemia, Macrocytic/genetics/metabolism ; Animals ; Antimicrobial Cationic Peptides/*genetics/metabolism ; Cell Line, Tumor ; Gene Expression Regulation ; Hepcidins ; Humans ; Iron/blood/*deficiency/metabolism ; Membrane Proteins/chemistry/genetics/*metabolism ; Mice ; Mice, Mutant Strains ; Mice, Transgenic ; Models, Biological ; Mutation ; Phenotype ; Promoter Regions, Genetic ; Protein Structure, Tertiary ; Serine Endopeptidases/chemistry/genetics/*metabolism ; Signal Transduction ; Transfection
    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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  • 6
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    Cell biology. "Pumping" iron: the proteins (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2004-12-18
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Beutler, Ernest -- New York, N.Y. -- Science. 2004 Dec 17;306(5704):2051-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA. beutler@scripps.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15604397" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Antimicrobial Cationic Peptides/*metabolism ; Biological Transport ; Cation Transport Proteins/genetics/*metabolism ; Enterocytes/metabolism ; Erythropoiesis ; Erythropoietin/genetics/metabolism ; Gene Expression Regulation ; Hemochromatosis/genetics ; Hepatocytes/metabolism ; Hepcidins ; Histocompatibility Antigens Class I/genetics ; Homeostasis ; Iron/*metabolism ; Iron Regulatory Protein 1/*metabolism ; Iron Regulatory Protein 2/*metabolism ; Membrane Proteins/genetics ; Mice ; Models, Biological ; Mutation ; Nitric Oxide/metabolism ; Oxygen/physiology ; Response Elements ; Signal Transduction ; Transcription, Genetic
    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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  • 7
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    Multicentric origin of colon carcinoma (1984)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1984-05-11
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Beutler, E -- New York, N.Y. -- Science. 1984 May 11;224(4649):630.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6710162" target="_blank"〉PubMed〈/a〉
    Keywords: Colonic Neoplasms/*etiology/genetics ; Female ; Glucosephosphate Dehydrogenase/genetics ; Glucosephosphate Dehydrogenase Deficiency/genetics ; Humans
    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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  • 8
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    Reference manager (1987)
    American Association for the Advancement of Science (AAAS)
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    Publication Date: 1987-08-21
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Beutler, E -- New York, N.Y. -- Science. 1987 Aug 21;237(4817):824.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17771371" target="_blank"〉PubMed〈/a〉
    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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  • 9
    Electronic Resource
    Electronic Resource
    Gaucher disease, a paradigm for single gene defects (1995)
    Springer
    Cellular and molecular life sciences 51 (1995), S. 196-197 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Gaucher disease is the most common glycolipid storage disease. Type I, the most common form of the disease, is characterised by enlargement of the liver, and spleen and bone lesions. In the rare type II and type III forms of the disorder, central nervous system involvement is present as well. The disease results from a deficiency of the lysosomal enzyme glucocerebrosidase, which is needed for the enzymatic degradation of complex lipids, globosides and gangliosides. In the absence of sufficient glucocerebrosidase activity, the catabolic product glucocerebroside accumulates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01931089
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  • 10
    Electronic Resource
    Electronic Resource
    Increased susceptibility of riboflavin deficient rats to galactose cataract (1970)
    Springer
    Cellular and molecular life sciences 26 (1970), S. 250-250 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Zusammenfassung Bei riboflavinarm ernährten Albinoratten beträgt die Aktivität der Erythrocyten-Glutathionreduktase nur 40% und diejenige der Augenlinsen-Glutathionreduktase 75% der Aktivität normaler Kontrolltiere und es kommt zu vorzeitigem Auftreten von Katarakten.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01900074
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