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  • 1
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    Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22 (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2000-04-28
    Beschreibung: Schizophrenia is a complex disorder, and there is substantial evidence supporting a genetic etiology. Despite this, prior attempts to localize susceptibility loci have produced predominantly suggestive findings. A genome-wide scan for schizophrenia susceptibility loci in 22 extended families with high rates of schizophrenia provided highly significant evidence of linkage to chromosome 1 (1q21-q22), with a maximum heterogeneity logarithm of the likelihood of linkage (lod) score of 6.50. This linkage result should provide sufficient power to allow the positional cloning of the underlying susceptibility gene.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787922/" 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/PMC3787922/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Brzustowicz, L M -- Hodgkinson, K A -- Chow, E W -- Honer, W G -- Bassett, A S -- 53216/Canadian Institutes of Health Research/Canada -- K08 MH01392/MH/NIMH NIH HHS/ -- N01-HG-65403/HG/NHGRI NIH HHS/ -- New York, N.Y. -- Science. 2000 Apr 28;288(5466):678-82.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center for Molecular and Behavioral Neuroscience, Rutgers University, Newark, NJ 07102, USA. brzustowicz@axon.rutgers.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10784452" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Chromosome Mapping ; Chromosomes, Human, Pair 1/*genetics ; Computer Simulation ; Female ; Genes, Dominant ; Genes, Recessive ; Genetic Heterogeneity ; Genetic Linkage ; Genetic Markers ; *Genetic Predisposition to Disease ; Humans ; Likelihood Functions ; Lod Score ; Male ; Models, Genetic ; Pedigree ; Schizophrenia/*genetics
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 2
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    Human hypertension caused by mutations in WNK kinases (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2001-08-11
    Beschreibung: Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K+, and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wilson, F H -- Disse-Nicodeme, S -- Choate, K A -- Ishikawa, K -- Nelson-Williams, C -- Desitter, I -- Gunel, M -- Milford, D V -- Lipkin, G W -- Achard, J M -- Feely, M P -- Dussol, B -- Berland, Y -- Unwin, R J -- Mayan, H -- Simon, D B -- Farfel, Z -- Jeunemaitre, X -- Lifton, R P -- New York, N.Y. -- Science. 2001 Aug 10;293(5532):1107-12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Howard Hughes Medical Institute; Yale University School of Medicine, Boyer Center for Molecular Medicine, 295 Congress Avenue, New Haven, CT 06510 USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11498583" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Amino Acid Sequence ; Base Sequence ; Chromosome Mapping ; Chromosomes, Human, Pair 12/genetics ; Chromosomes, Human, Pair 17/genetics ; Cytoplasm/enzymology ; Female ; Gene Expression Regulation, Enzymologic ; Genetic Linkage ; Humans ; Hypertension/enzymology/*genetics/physiopathology ; Intercellular Junctions/enzymology ; Intracellular Signaling Peptides and Proteins ; Introns ; Kidney Tubules, Collecting/enzymology/ultrastructure ; Kidney Tubules, Distal/enzymology/ultrastructure ; Male ; Membrane Proteins/metabolism ; Microscopy, Fluorescence ; Molecular Sequence Data ; *Mutation ; Mutation, Missense ; Pedigree ; Phosphoproteins/metabolism ; Protein-Serine-Threonine Kinases/chemistry/*genetics/metabolism ; Pseudohypoaldosteronism/enzymology/*genetics/physiopathology ; Sequence Deletion ; Signal Transduction ; Zonula Occludens-1 Protein
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 3
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    Rapid evolution of a geographic cline in size in an introduced fly (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2000-01-15
    Beschreibung: The introduction and rapid spread of Drosophila subobscura in the New World two decades ago provide an opportunity to determine the predictability and rate of evolution of a geographic cline. In ancestral Old World populations, wing length increases clinally with latitude. In North American populations, no wing length cline was detected one decade after the introduction. After two decades, however, a cline has evolved and largely converged on the ancestral cline. The rate of morphological evolution on a continental scale is very fast, relative even to rates measured within local populations. Nevertheless, different wing sections dominate the New versus Old World clines. Thus, the evolution of geographic variation in wing length has been predictable, but the means by which the cline is achieved is contingent.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Huey, R B -- Gilchrist, G W -- Carlson, M L -- Berrigan, D -- Serra, L -- New York, N.Y. -- Science. 2000 Jan 14;287(5451):308-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Zoology, University of Washington, Box 351800, Seattle, WA 98195-1800, USA. hueyrb@u.washington.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10634786" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; *Biological Evolution ; Drosophila/*anatomy & histology/*genetics ; Europe ; Female ; Geography ; Male ; North America ; Sex Characteristics ; Time Factors ; Wings, Animal/*anatomy & histology
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 4
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    Osedax: bone-eating marine worms with dwarf males (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2004-08-03
    Beschreibung: We describe a new genus, Osedax, and two new species of annelids with females that consume the bones of dead whales via ramifying roots. Molecular and morphological evidence revealed that Osedax belongs to the Siboglinidae, which includes pogonophoran and vestimentiferan worms from deep-sea vents, seeps, and anoxic basins. Osedax has skewed sex ratios with numerous dwarf (paedomorphic) males that live in the tubes of females. DNA sequences reveal that the two Osedax species diverged about 42 million years ago and currently maintain large populations ranging from 10(5) to 10(6) adult females.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rouse, G W -- Goffredi, S K -- Vrijenhoek, R C -- New York, N.Y. -- Science. 2004 Jul 30;305(5684):668-71.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉South Australian Museum, North Terrace, Adelaide SA 5000, Australia.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15286372" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Bacterial Physiological Phenomena ; Bone Marrow/metabolism ; Bone and Bones/*metabolism ; Female ; Male ; Phylogeny ; Polychaeta/anatomy & histology/*classification/microbiology/*physiology ; Population Density ; Seawater ; Sex Characteristics ; Sex Ratio ; Symbiosis ; Terminology as Topic ; Whales
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 5
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    Mitochondrial dysfunction in the elderly: possible role in insulin resistance (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2003-05-17
    Beschreibung: Insulin resistance is a major factor in the pathogenesis of type 2 diabetes in the elderly. To investigate how insulin resistance arises, we studied healthy, lean, elderly and young participants matched for lean body mass and fat mass. Elderly study participants were markedly insulin-resistant as compared with young controls, and this resistance was attributable to reduced insulin-stimulated muscle glucose metabolism. These changes were associated with increased fat accumulation in muscle and liver tissue assessed by 1H nuclear magnetic resonance (NMR) spectroscopy, and with a approximately 40% reduction in mitochondrial oxidative and phosphorylation activity, as assessed by in vivo 13C/31P NMR spectroscopy. These data support the hypothesis that an age-associated decline in mitochondrial function contributes to insulin resistance in the elderly.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004429/" 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/PMC3004429/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Petersen, Kitt Falk -- Befroy, Douglas -- Dufour, Sylvie -- Dziura, James -- Ariyan, Charlotte -- Rothman, Douglas L -- DiPietro, Loretta -- Cline, Gary W -- Shulman, Gerald I -- K-23 DK-02347/DK/NIDDK NIH HHS/ -- K23 DK002734/DK/NIDDK NIH HHS/ -- K23 DK002734-04/DK/NIDDK NIH HHS/ -- M01 RR-00125/RR/NCRR NIH HHS/ -- P30 DK-45735/DK/NIDDK NIH HHS/ -- P60 AG-10469/AG/NIA NIH HHS/ -- R01 AG-09872/AG/NIA NIH HHS/ -- R01 AG023686/AG/NIA NIH HHS/ -- R01 AG023686-01A1/AG/NIA NIH HHS/ -- R01 DK-49230/DK/NIDDK NIH HHS/ -- New York, N.Y. -- Science. 2003 May 16;300(5622):1140-2.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12750520" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Adipose Tissue ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Aging/metabolism ; Blood Glucose/metabolism ; Body Mass Index ; Female ; Humans ; Insulin/metabolism ; *Insulin Resistance ; Liver/metabolism ; Male ; Middle Aged ; Mitochondria/*metabolism ; Mitochondrial Diseases/blood/*complications/metabolism ; Muscle, Skeletal/metabolism ; Nuclear Magnetic Resonance, Biomolecular ; Oxidation-Reduction ; Oxygen Consumption ; Phosphorylation ; Triglycerides/*metabolism
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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