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  • Male  (3)
  • American Association for the Advancement of Science (AAAS)  (3)
  • 1
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    TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis (2008)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2008-03-01
    Description: Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervous system is uncertain, and a mechanistic role in neurodegeneration remains speculative. We identified neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases. TARDBPM337V segregated with disease within one kindred and a genome-wide scan confirmed that linkage was restricted to chromosome 1p36, which contains the TARDBP locus. Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests a pathophysiological link between TDP-43 and ALS.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sreedharan, Jemeen -- Blair, Ian P -- Tripathi, Vineeta B -- Hu, Xun -- Vance, Caroline -- Rogelj, Boris -- Ackerley, Steven -- Durnall, Jennifer C -- Williams, Kelly L -- Buratti, Emanuele -- Baralle, Francisco -- de Belleroche, Jacqueline -- Mitchell, J Douglas -- Leigh, P Nigel -- Al-Chalabi, Ammar -- Miller, Christopher C -- Nicholson, Garth -- Shaw, Christopher E -- G0500289/Medical Research Council/United Kingdom -- G0501573/Medical Research Council/United Kingdom -- G0600974/Medical Research Council/United Kingdom -- Medical Research Council/United Kingdom -- Wellcome Trust/United Kingdom -- New York, N.Y. -- Science. 2008 Mar 21;319(5870):1668-72. doi: 10.1126/science.1154584. Epub 2008 Feb 28.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18309045" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Amino Acid Sequence ; Amino Acid Substitution ; Amyotrophic Lateral Sclerosis/*genetics ; Animals ; Apoptosis ; CHO Cells ; Chick Embryo ; Chromosomes, Human, Pair 1/genetics ; Cricetinae ; Cricetulus ; DNA-Binding Proteins/chemistry/*genetics/physiology ; Embryonic Development ; Female ; Humans ; Male ; Microsatellite Repeats ; Middle Aged ; Molecular Sequence Data ; Mutant Proteins/chemistry/physiology ; *Mutation, Missense ; Neurons/cytology/physiology
    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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  • 2
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    A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection (2008)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2008-12-17
    Description: Apolipoprotein C-III (apoC-III) inhibits triglyceride hydrolysis and has been implicated in coronary artery disease. Through a genome-wide association study, we have found that about 5% of the Lancaster Amish are heterozygous carriers of a null mutation (R19X) in the gene encoding apoC-III (APOC3) and, as a result, express half the amount of apoC-III present in noncarriers. Mutation carriers compared with noncarriers had lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol. Subclinical atherosclerosis, as measured by coronary artery calcification, was less common in carriers than noncarriers, which suggests that lifelong deficiency of apoC-III has a cardioprotective effect.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673993/" 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/PMC2673993/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Pollin, Toni I -- Damcott, Coleen M -- Shen, Haiqing -- Ott, Sandra H -- Shelton, John -- Horenstein, Richard B -- Post, Wendy -- McLenithan, John C -- Bielak, Lawrence F -- Peyser, Patricia A -- Mitchell, Braxton D -- Miller, Michael -- O'Connell, Jeffrey R -- Shuldiner, Alan R -- M01 RR 000052/RR/NCRR NIH HHS/ -- M01 RR 16500/RR/NCRR NIH HHS/ -- M01 RR000052-38/RR/NCRR NIH HHS/ -- M01 RR016500/RR/NCRR NIH HHS/ -- M01 RR016500-01/RR/NCRR NIH HHS/ -- M01 RR016500-02/RR/NCRR NIH HHS/ -- M01 RR016500-03/RR/NCRR NIH HHS/ -- M01 RR016500-030010/RR/NCRR NIH HHS/ -- M01 RR016500-04/RR/NCRR NIH HHS/ -- P30 DK072488/DK/NIDDK NIH HHS/ -- P30 DK072488-01/DK/NIDDK NIH HHS/ -- P30 DK072488-019001/DK/NIDDK NIH HHS/ -- P30 DK072488-029001/DK/NIDDK NIH HHS/ -- P30 DK072488-039001/DK/NIDDK NIH HHS/ -- P30 DK072488-049001/DK/NIDDK NIH HHS/ -- R01 AG018728/AG/NIA NIH HHS/ -- R01 AG018728-01A1/AG/NIA NIH HHS/ -- R01 AG018728-02/AG/NIA NIH HHS/ -- R01 AG018728-02S1/AG/NIA NIH HHS/ -- R01 AG018728-03/AG/NIA NIH HHS/ -- R01 AG018728-03S1/AG/NIA NIH HHS/ -- R01 AG018728-04/AG/NIA NIH HHS/ -- R01 AG018728-05/AG/NIA NIH HHS/ -- R01 AG018728-05S1/AG/NIA NIH HHS/ -- R01 AG18728/AG/NIA NIH HHS/ -- R01 AR046838/AR/NIAMS NIH HHS/ -- R01 AR046838-01/AR/NIAMS NIH HHS/ -- R01 AR046838-02/AR/NIAMS NIH HHS/ -- R01 AR046838-03/AR/NIAMS NIH HHS/ -- R01 AR046838-04/AR/NIAMS NIH HHS/ -- R01 AR046838-05/AR/NIAMS NIH HHS/ -- R01 HL088119/HL/NHLBI NIH HHS/ -- R01 HL088119-01/HL/NHLBI NIH HHS/ -- R01 HL088119-02/HL/NHLBI NIH HHS/ -- U01 HL072515/HL/NHLBI NIH HHS/ -- U01 HL072515-01/HL/NHLBI NIH HHS/ -- U01 HL072515-02/HL/NHLBI NIH HHS/ -- U01 HL072515-03/HL/NHLBI NIH HHS/ -- U01 HL072515-04/HL/NHLBI NIH HHS/ -- U01 HL072515-05/HL/NHLBI NIH HHS/ -- U01 HL072515-06/HL/NHLBI NIH HHS/ -- U01 HL084756/HL/NHLBI NIH HHS/ -- U01 HL084756-01/HL/NHLBI NIH HHS/ -- U01 HL084756-02/HL/NHLBI NIH HHS/ -- U01 HL084756-03/HL/NHLBI NIH HHS/ -- U01 HL72515/HL/NHLBI NIH HHS/ -- New York, N.Y. -- Science. 2008 Dec 12;322(5908):1702-5. doi: 10.1126/science.1161524.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA. tpollin@medicine.umaryland.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19074352" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Apolipoprotein C-III/blood/*genetics ; Cholesterol/blood ; Cholesterol, HDL/*blood ; Cholesterol, LDL/*blood ; Christianity ; Coronary Artery Disease/genetics/*prevention & control ; Dietary Fats/administration & dosage ; Fasting ; Female ; Genome-Wide Association Study ; Haplotypes ; Heterozygote ; Humans ; Linkage Disequilibrium ; Lipids/*blood ; Male ; Middle Aged ; *Mutation ; Pedigree ; Pennsylvania ; Polymorphism, Single Nucleotide ; Risk Factors ; Triglycerides/*blood
    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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  • 3
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    Stimulation of prostaglandin biosynthesis by urine of the human fetus may serve as a trigger for parturition (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-04-29
    Description: Urine of the human fetus stimulated prostaglandin biosynthesis in vitro by increasing the conversion of arachidonic acid into prostaglandins. The stimulatory activity in urine from fetuses delivered at term after labor of spontaneous onset was greater than that in urine from fetuses delivered by cesarean section at term before the onset of labor. Such stimulation of prostaglandin biosynthesis by the fetal membranes, by way of a substance released into the urine and thence into amniotic fluid, could serve as a signal for the initiation of parturition.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Strickland, D M -- Saeed, S A -- Casey, M L -- Mitchell, M D -- 5-P50-HD11149/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 1983 Apr 29;220(4596):521-2.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6573023" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Dinoprostone ; Extraembryonic Membranes/physiology ; Female ; Fetus/*physiology ; Humans ; *Labor Onset ; *Labor, Obstetric ; Male ; Pregnancy ; Prostaglandins/*biosynthesis ; Prostaglandins E/biosynthesis ; *Urine
    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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