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101.
Cystic fibrosis in Greece: Typing with DNA probes and identification of the common molecular defect 总被引:2,自引:2,他引:0
A. Balassopoulou D. Loukopoulos P. Kollia M. Devoto G. Adam S. Arvanitakis H. Hadjisevastou 《Human genetics》1990,85(4):393-394
Summary The relative frequency of the ΔF508 mutation in the Greek population is 54.1%; this is similar to that reported in other Southern
European populations and contrasts with the considerably higher frequencies encountered in Northern Europe and North America.
The low frequency is in agreement with the linkage disequilibrium already reported between cystic fibrosis and haplotype B
in this country. In contrast to the common association of pancreatic insufficiency with the homozygous ΔF508 genotype, the
present study revealed two homozygous children with no evidence of pancreatic failure. 相似文献
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To reduce the number of hours that senior house officers in the neonatal department at Southmead Hospital, Bristol, have to work continuously a new on call rota was devised. The rota changed the traditional one in three system of 24 and 32 hour periods on call to one with two shifts each day, and it spread the workload more evenly among the personnel. The continuity of care of the patients was improved, no extra staff were recruited, and the new system was favoured by senior and junior medical and nursing staff. 相似文献
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Adam Brymora Iain G. Duggin Leise A. Berven Ellen M. van Dam Basil D. Roufogalis Phillip J. Robinson 《PloS one》2012,7(11)
RalA is a membrane-associated small GTPase that regulates vesicle trafficking. Here we identify a specific interaction between RalA and ERp57, an oxidoreductase and signalling protein. ERp57 bound specifically to the GDP-bound form of RalA, but not the GTP-bound form, and inhibited the dissociation of GDP from RalA in vitro. These activities were inhibited by reducing agents, but no disulphide bonds were detected between RalA and ERp57. Mutation of all four of ERp57’s active site cysteine residues blocked sensitivity to reducing agents, suggesting that redox-dependent conformational changes in ERp57 affect binding to RalA. Mutations in the switch II region of the GTPase domain of RalA specifically reduced or abolished binding to ERp57, but did not block GTP-specific binding to known RalA effectors, the exocyst and RalBP1. Oxidative treatment of A431 cells with H2O2 inhibited cellular RalA activity, and the effect was exacerbated by expression of recombinant ERp57. The oxidative treatment significantly increased the amount of RalA localised to the cytosol. These findings suggest that ERp57 regulates RalA signalling by acting as a redox-sensitive guanine-nucleotide dissociation inhibitor (RalGDI). 相似文献
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Adriana Vergs Alexandra H. Campbell Georgina Wood Lana Kajlich Aaron M. Eger Derrick Cruz Madelaine Langley Damon Bolton Melinda A. Coleman Jennifer Turpin Michaelie Crawford Nigel Coombes Adam Camilleri Peter D. Steinberg Ezequiel M. Marzinelli 《Ecological Management & Restoration》2020,21(2):74-85
Operation Crayweed focuses on the restoration of underwater forests that disappeared from the coastline of Sydney, Australia’s largest city, 40 years previously. We show how a combination of science, hands‐on restoration, community engagement and art has helped the project to reach its goals as well as raise awareness about the importance of underwater kelp forests that are experiencing global decline. 相似文献
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