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  • 1
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    Haplotype variation and linkage disequilibrium in 313 human genes (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2001-07-14
    Beschreibung: Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stephens, J C -- Schneider, J A -- Tanguay, D A -- Choi, J -- Acharya, T -- Stanley, S E -- Jiang, R -- Messer, C J -- Chew, A -- Han, J H -- Duan, J -- Carr, J L -- Lee, M S -- Koshy, B -- Kumar, A M -- Zhang, G -- Newell, W R -- Windemuth, A -- Xu, C -- Kalbfleisch, T S -- Shaner, S L -- Arnold, K -- Schulz, V -- Drysdale, C M -- Nandabalan, K -- Judson, R S -- Ruano, G -- Vovis, G F -- New York, N.Y. -- Science. 2001 Jul 20;293(5529):489-93. Epub 2001 Jul 12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genaissance Pharmaceuticals, Inc., Five Science Park, New Haven, CT 06511, USA. c.stephens@genaissance.com〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11452081" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): African Continental Ancestry Group/genetics ; Alleles ; Animals ; Asian Continental Ancestry Group/genetics ; Dinucleoside Phosphates/genetics ; European Continental Ancestry Group/genetics ; Evolution, Molecular ; Female ; *Genetic Variation ; *Haplotypes ; Heterozygote ; Hispanic Americans/genetics ; Humans ; *Linkage Disequilibrium ; Male ; Mutation ; Pan troglodytes/genetics ; *Polymorphism, Single Nucleotide ; X Chromosome/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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    Complement factor H polymorphism in age-related macular degeneration (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 2005-03-12
    Beschreibung: Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value 〈10(-7)). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1512523/" 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/PMC1512523/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Klein, Robert J -- Zeiss, Caroline -- Chew, Emily Y -- Tsai, Jen-Yue -- Sackler, Richard S -- Haynes, Chad -- Henning, Alice K -- SanGiovanni, John Paul -- Mane, Shrikant M -- Mayne, Susan T -- Bracken, Michael B -- Ferris, Frederick L -- Ott, Jurg -- Barnstable, Colin -- Hoh, Josephine -- K01RR16090/RR/NCRR NIH HHS/ -- K25HG000060/HG/NHGRI NIH HHS/ -- R01EY015771/EY/NEI NIH HHS/ -- R01MH44292/MH/NIMH NIH HHS/ -- Z99 EY999999/Intramural NIH HHS/ -- ZIA EY000489-01/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2005 Apr 15;308(5720):385-9. Epub 2005 Mar 10.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15761122" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Aged ; Aged, 80 and over ; Aging ; Alleles ; Amino Acid Substitution ; Case-Control Studies ; Choroid/immunology ; Chromosomes, Human, Pair 1/genetics ; Complement Factor H/chemistry/*genetics/physiology ; Complement Membrane Attack Complex/analysis ; Exons ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Histidine/genetics ; Humans ; Immunity, Innate ; Introns ; Linkage Disequilibrium ; Macular Degeneration/*genetics ; Male ; Oligonucleotide Array Sequence Analysis ; Pigment Epithelium of Eye/immunology ; Polymorphism, Genetic ; *Polymorphism, Single Nucleotide ; Risk Factors ; Smoking
    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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    Design of an autonomous Lunar construction utility vehicle (1990)
    In:  CASI
    Details
    Publikationsdatum: 2019-06-28
    Beschreibung: In order to prepare a site for a manned lunar base, an autonomously operated construction vehicle is necessary. A Lunar Construction Utility Vehicle (LCUV), which utilizes interchangeable construction implements, was designed conceptually. Some elements of the machine were studied in greater detail. Design of an elastic loop track system has advanced to the testing stage. A standard coupling device was designed to insure a proper connection between the different construction tools and the LCUV. Autonomous control of the track drive motors was simulated successfully through the use of a joystick and computer interface. A study of hydrogen-oxygen fuel cells has produced estimates of reactant and product size requirements and identified multi-layer insulation techniques. Research on a 100 kW heat rejection system has determined that it is necessary to house a radiator panel on a utility trailer. The impact of a 720 hr use cycle has produced a very large logistical support lien which requires further study.
    Schlagwort(e): MECHANICAL ENGINEERING
    Materialart: NASA-CR-186832 , NAS 1.26:186832
    Format: application/pdf
    Standort Signatur Erwartet Verfügbarkeit
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  • 4
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    Noncircular rolling joints for vibrational reduction in slewing maneuvers (1992)
    In:  CASI
    Details
    Publikationsdatum: 2019-06-28
    Beschreibung: A rolling joint is provided for obtaining slewing maneuvers for various apparatus including space structures, space vehicles, robotic manipulators, and simulators. Two noncircular cylinders, namely a drive and a driven cylinder, are provided in driving contact with one another. This contact is maintained by two pairs of generally S-shaped bands, each pair forming a generally 8-shaped coupling tightly about the circumferential periphery of the noncircular drive and driven cylinders. A stationarily fixed arm extends between and is rotatably journalled with a drive axle and a spindle axle respectively extending through selected rotational points of the drive cylinder and of the driven cylinder. The noncircular cylinders are profiled to obtain the desired varying gear ratio. The novelty of the present invention resides in using specifically profiled noncircular cylinders to obtain a desired varying gear ratio.
    Schlagwort(e): MECHANICAL ENGINEERING
    Format: application/pdf
    Standort Signatur Erwartet Verfügbarkeit
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  • 5
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    On the danger of redundancies in some aerospace mechanisms (1988)
    In:  CASI
    Details
    Publikationsdatum: 2019-06-28
    Beschreibung: An attempt is made to show that redundancies in some aerospace mechanisms do not generally improve the odds for success. Some of these redundancies may even be the very cause for failure of the system. To illustrate this fallacy, two designs based on the Control of Flexible Structures I (COFS I) Mast deployer and retractor assembly (DRA) are presented together with novel designs to circumvent such design inadequacies, while improving system reliability.
    Schlagwort(e): MECHANICAL ENGINEERING
    Materialart: NASA. Langley Research Center, The 22nd Aerospace Mechanisms Symposium,; p 87-98
    Format: application/pdf
    Standort Signatur Erwartet Verfügbarkeit
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  • 6
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    Assessment of the COFSI/MAST I project (1987)
    In:  CASI
    Details
    Publikationsdatum: 2019-07-20
    Beschreibung: The COFS (MAST I) deployer/retractor assembly (DRA) which has a cluster of mechanisms that constitute the collapsible/extensible Mast, contains mechanisms/linkages that deploy and retract. The Mast is a flexible spatial (3D) linkage with hinges that lock into place during deployment to form a truss type structure. It is 60 meters long with repeating sections of two bays. Each bay has alternating diagonals. All joints are single degree-of-freedom hinges, arranged such that the Mast does not rotate during deployment/restow and that deformation energy is minimized. Mispan hinges are incorporated in the diagonals and half of the batten members. The various operational aspects and characteristics of the various mechanisms within the DRA are analyzed. In view of the disadvantages of statical in determinancy as well as the inefficiencies inherent in recirculating gear trains, it is recommended that the bevel gear trains and the bell-crank mechanisms be redesigned.
    Schlagwort(e): MECHANICAL ENGINEERING
    Materialart: NASA-CR-181366 , NAS 1.26:181366 , TA-75
    Format: application/pdf
    Standort Signatur Erwartet Verfügbarkeit
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    NASA TECHNICAL REPORTS
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