排序方式: 共有52条查询结果,搜索用时 15 毫秒
41.
Kleta R Romeo E Ristic Z Ohura T Stuart C Arcos-Burgos M Dave MH Wagner CA Camargo SR Inoue S Matsuura N Helip-Wooley A Bockenhauer D Warth R Bernardini I Visser G Eggermann T Lee P Chairoungdua A Jutabha P Babu E Nilwarangkoon S Anzai N Kanai Y Verrey F Gahl WA Koizumi A 《Nature genetics》2004,36(9):999-1002
Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra (rashes), cerebellar ataxia and psychosis. Using homozygosity mapping in the original family in whom Hartnup disorder was discovered, we confirmed that the critical region for one causative gene was located on chromosome 5p15 (ref. 3). This region is homologous to the area of mouse chromosome 13 that encodes the sodium-dependent amino acid transporter B(0)AT1 (ref. 4). We isolated the human homolog of B(0)AT1, called SLC6A19, and determined its size and molecular organization. We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families. The protein product of SLC6A19, the Hartnup transporter, is expressed primarily in intestine and renal proximal tubule and functions as a neutral amino acid transporter. 相似文献
42.
43.
Sharp ZD 《Cellular and molecular life sciences : CMLS》2011,68(4):587-597
Longstanding results with calorie and growth factor restriction plus recent results with the first interventional drug suggest
that retarding the pace of aging to improve the quality of life of older people is at hand. The biological system targeted
by these approaches is the target of rapamycin (TOR), which is central for cellular responses to a variety of stimuli including
stressors, growth factors, and nutrients and energy states. That the life-extending response to reducing its activity is highly
conserved from yeast to mammals is consistent with the evolution of aging as a strategy to preserve reproductive potential
of young cells and animals. 相似文献
44.
The genome of Theobroma cacao 总被引:2,自引:0,他引:2
Argout X Salse J Aury JM Guiltinan MJ Droc G Gouzy J Allegre M Chaparro C Legavre T Maximova SN Abrouk M Murat F Fouet O Poulain J Ruiz M Roguet Y Rodier-Goud M Barbosa-Neto JF Sabot F Kudrna D Ammiraju JS Schuster SC Carlson JE Sallet E Schiex T Dievart A Kramer M Gelley L Shi Z Bérard A Viot C Boccara M Risterucci AM Guignon V Sabau X Axtell MJ Ma Z Zhang Y Brown S Bourge M Golser W Song X Clement D Rivallan R Tahi M Akaza JM Pitollat B Gramacho K D'Hont A Brunel D Infante D Kebe I Costet P 《Nature genetics》2011,43(2):101-108
We sequenced and assembled the draft genome of Theobroma cacao, an economically important tropical-fruit tree crop that is the source of chocolate. This assembly corresponds to 76% of the estimated genome size and contains almost all previously described genes, with 82% of these genes anchored on the 10 T. cacao chromosomes. Analysis of this sequence information highlighted specific expansion of some gene families during evolution, for example, flavonoid-related genes. It also provides a major source of candidate genes for T. cacao improvement. Based on the inferred paleohistory of the T. cacao genome, we propose an evolutionary scenario whereby the ten T. cacao chromosomes were shaped from an ancestor through eleven chromosome fusions. 相似文献
45.
Dave JR Connors RA Genovese RF Whipple RA Chen RW DeFord SM Moran AV Tortella EC 《Cellular and molecular life sciences : CMLS》2007,64(21):2823-2828
The objective of this study was to determine levels of DNA fragmentation in blood leukocytes and parietal cortex from guinea
pigs following repeated lowlevel exposure to the chemical warfare nerve agent (CWNA) sarin. Guinea pigs were injected (s.c.)
once a day for 10 days with saline, or 0.1, 0.2, or 0.4 LD50 (50% mean lethal dose) sarin dissolved in sterile physiological saline. Blood and parietal cortex was collected after injection
at 0, 3, and 17 days recovery and evaluated for DNA fragmentation using single-cell gel electrophoresis (Comet assay). Cells
were imaged using comet analysis software and three parameters of DNA fragmentation measured: tail length, percent DNA in
the tail, and tail moment arm. Repeated low-dose exposure to sarin produced a dose-dependent response in leukocytes at 0 and
3 days post-exposure. There was a significant increase in all measures of DNA fragmentation at 0.2 and 0.4 LD50, but not at 0.1 LD50. There was no significant increase in DNA fragmentation in any of the groups at 17 days post-exposure. Sarin did not produce
a systematic dose-dependent response in parietal cortex at any of the time points. However, significant increases in DNA fragmentation
at 0.1 and 0.4 LD50 were observed at 0 and 3 days post-exposure. All measures of DNA fragmentation in both leukocytes and neurons returned to
control levels by 17 days post-exposure, indicating a small and non-persistent increase in DNA fragmentation following repeated
low-level exposure to sarin.
Received 23 July 2007; received after revision 23 August 2007; accepted 3 September 2007
Research was conducted in compliance with the Animal Welfare Act, and other Federal statutes and regulation relating to animals
and experiments involving animals and adheres to the principles
stated in the Guide for the Care and Use of Laboratory Animals, NIH publication 85-23. The views of the authors do not purport
to reflect the position of the Department of the Army or the Department of Defense (para 4-3), AR 360–365. 相似文献
46.
This paper develops a New‐Keynesian Dynamic Stochastic General Equilibrium (NKDSGE) model for forecasting the growth rate of output, inflation, and the nominal short‐term interest rate (91 days Treasury Bill rate) for the South African economy. The model is estimated via maximum likelihood technique for quarterly data over the period of 1970:1–2000:4. Based on a recursive estimation using the Kalman filter algorithm, out‐of‐sample forecasts from the NKDSGE model are compared with forecasts generated from the classical and Bayesian variants of vector autoregression (VAR) models for the period 2001:1–2006:4. The results indicate that in terms of out‐of‐sample forecasting, the NKDSGE model outperforms both the classical and Bayesian VARs for inflation, but not for output growth and nominal short‐term interest rate. However, differences in RMSEs are not significant across the models. Copyright © 2008 John Wiley & Sons, Ltd. 相似文献
47.
Laura Pavesi Dave J. Wildish Peter Gasson Miranda Lowe Valerio Ketmaier 《Journal of Natural History》2015,49(17-18):1047-1071
An unknown talitrid was discovered in 2011 in the Swale, UK, living in driftwood. Sequencing of multiple mitochondrial and nuclear genes (cytochrome oxidase I, 18S rDNA and 28S rDNA) confirms that the unknown taxon was close to Orchestia mediterranea A. Costa 1857. The driftwood in which it was found was of Douglas fir (Pseudotsuga menziesii), probably imported from North America. Relative growth methods allow us to reject the null hypothesis that the unknown taxon was a juvenile Orchestia mediterranea. This is because the unknown taxon initiates sexual maturation at an earlier moult number (neoteny) and is predicted to reach terminal moult stages at a much smaller size (dwarfism) than its closest relative O. mediterranea. Both molecular and morphological data confirm that the unknown taxon from the Swale, UK, is a new driftwood specialist taxon, distantly related to the driftwood specialist genus Macarorchestia. Additional data for body length and sex ratios are presented for Macarorchestia. In addition, relative growth methods have shown that the driftwood species Orchestia microphtalma Amanieu and Salvat 1964 is closer to the genus Macarorchestia rather than to the wrack generalist one, Orchestia. This evidence is in line with the molecular results that do not cluster morphologically defined species of Orchestia monophyletically. 相似文献
48.
CARROLL Dave 《中山大学学报(自然科学版)》2007,46(Z2):31-36
This paper describes an analysis of the match between the module learning outcomes and the programme learning outcomes of the MSc in Assistive Technology offered by the School of Computing. The contribution of each MSc module to the overall programme learning outcomes was assessed using a Module Matrix. An overall Master Matrix was used to assess the overall contribution of all 16 modules to the programme learning outcomes of the MSc programme. The analysis of the MSc programme design was taken a stage further by graphing the learning outcomes of the overall programme against the individual module learning outcomes. This provided a useful tool for analysis of the MSc programme. The approach outlined in this paper provides a visualisation tool that allows the programme designer to quickly identify the deficiencies and excesses in the relationships between programme learning outcomes and module learning outcomes. 相似文献
49.
Martin J Han C Gordon LA Terry A Prabhakar S She X Xie G Hellsten U Chan YM Altherr M Couronne O Aerts A Bajorek E Black S Blumer H Branscomb E Brown NC Bruno WJ Buckingham JM Callen DF Campbell CS Campbell ML Campbell EW Caoile C Challacombe JF Chasteen LA Chertkov O Chi HC Christensen M Clark LM Cohn JD Denys M Detter JC Dickson M Dimitrijevic-Bussod M Escobar J Fawcett JJ Flowers D Fotopulos D Glavina T Gomez M Gonzales E Goodstein D Goodwin LA Grady DL Grigoriev I Groza M Hammon N Hawkins T 《Nature》2004,432(7020):988-994
50.
Grimwood J Gordon LA Olsen A Terry A Schmutz J Lamerdin J Hellsten U Goodstein D Couronne O Tran-Gyamfi M Aerts A Altherr M Ashworth L Bajorek E Black S Branscomb E Caenepeel S Carrano A Caoile C Chan YM Christensen M Cleland CA Copeland A Dalin E Dehal P Denys M Detter JC Escobar J Flowers D Fotopulos D Garcia C Georgescu AM Glavina T Gomez M Gonzales E Groza M Hammon N Hawkins T Haydu L Ho I Huang W Israni S Jett J Kadner K Kimball H Kobayashi A Larionov V Leem SH Lopez F Lou Y Lowry S 《Nature》2004,428(6982):529-535
Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu. 相似文献