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A candidate prostate cancer susceptibility gene at chromosome 17p 总被引:23,自引:0,他引:23
Tavtigian SV Simard J Teng DH Abtin V Baumgard M Beck A Camp NJ Carillo AR Chen Y Dayananth P Desrochers M Dumont M Farnham JM Frank D Frye C Ghaffari S Gupte JS Hu R Iliev D Janecki T Kort EN Laity KE Leavitt A Leblanc G McArthur-Morrison J Pederson A Penn B Peterson KT Reid JE Richards S Schroeder M Smith R Snyder SC Swedlund B Swensen J Thomas A Tranchant M Woodland AM Labrie F Skolnick MH Neuhausen S Rommens J Cannon-Albright LA 《Nature genetics》2001,27(2):172-180
It is difficult to identify genes that predispose to prostate cancer due to late age at diagnosis, presence of phenocopies within high-risk pedigrees and genetic complexity. A genome-wide scan of large, high-risk pedigrees from Utah has provided evidence for linkage to a locus on chromosome 17p. We carried out positional cloning and mutation screening within the refined interval, identifying a gene, ELAC2, harboring mutations (including a frameshift and a nonconservative missense change) that segregate with prostate cancer in two pedigrees. In addition, two common missense variants in the gene are associated with the occurrence of prostate cancer. ELAC2 is a member of an uncharacterized gene family predicted to encode a metal-dependent hydrolase domain that is conserved among eukaryotes, archaebacteria and eubacteria. The gene product bears amino acid sequence similarity to two better understood protein families, namely the PSO2 (SNM1) DNA interstrand crosslink repair proteins and the 73-kD subunit of mRNA 3' end cleavage and polyadenylation specificity factor (CPSF73). 相似文献
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The role of motile aeromonads in the fish disease, ulcerative disease syndrome (UDS) 总被引:1,自引:0,他引:1
Ulcerative Disease Syndrome (UDS) is an epizootic fish disease characterized by the presence of severe, open dermal ulcers on the head, midbody, and dorsal regions of the fish. Aeromonas hydrophila and A. sobria were recovered more often from UDS fish than other bacteria from the genera Vibrio, Alteromonas and Plesiomonas. Representative isolates of A. hydrophila, A. sobria, V. anguillarum, V. vulnificus, Alteromonas putrefaciens, and P. shigelloides taken from UDS and healthy fish were assayed for virulence-associated factors. The aeromonads produced a wide variety of hydrolytic enzymes and expressed cell surface characteristics linked to virulence whereas the other bacterial species rarely produced the same enzymes or cell surface characteristics. The role of aeromonads in UDS is believed to be opportunistic or secondary and these bacteria are thought to play an important role in this degenerative disease. 相似文献
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Flight in insects--which constitute the largest group of species in the animal kingdom--is powered by specialized muscles located within the thorax. In most insects each contraction is triggered not by a motor neuron spike but by mechanical stretch imposed by antagonistic muscles. Whereas 'stretch activation' and its reciprocal phenomenon 'shortening deactivation' are observed to varying extents in all striated muscles, both are particularly prominent in the indirect flight muscles of insects. Here we show changes in thick-filament structure and actin-myosin interactions in living, flying Drosophila with the use of synchrotron small-angle X-ray diffraction. To elicit stable flight behaviour and permit the capture of images at specific phases within the 5-ms wingbeat cycle, we tethered flies within a visual flight simulator. We recorded images of 340 micros duration every 625 micros to create an eight-frame diffraction movie, with each frame reflecting the instantaneous structure of the contractile apparatus. These time-resolved measurements of molecular-level structure provide new insight into the unique ability of insect flight muscle to generate elevated power at high frequency. 相似文献
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