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41.
Aistis Stankevicius Quentin J. M. Huys Aditi Kalra Peggy Seriès 《PLoS computational biology》2014,10(5)
Optimists hold positive a priori beliefs about the future. In Bayesian statistical theory, a priori beliefs can be overcome by experience. However, optimistic beliefs can at times appear surprisingly resistant to evidence, suggesting that optimism might also influence how new information is selected and learned. Here, we use a novel Pavlovian conditioning task, embedded in a normative framework, to directly assess how trait optimism, as classically measured using self-report questionnaires, influences choices between visual targets, by learning about their association with reward progresses. We find that trait optimism relates to an a priori belief about the likelihood of rewards, but not losses, in our task. Critically, this positive belief behaves like a probabilistic prior, i.e. its influence reduces with increasing experience. Contrary to findings in the literature related to unrealistic optimism and self-beliefs, it does not appear to influence the iterative learning process directly. 相似文献
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The bovine CaCC protein is a putative Ca2+-dependent Cl- channel of airway epithelial cells. Therefore, CaCC proteins could contribute to transepithelial Cl- transport and accordingly modify the phenotype of cystic fibrosis (CF) patients. We have identified a murine EST containing a full-length cDNA coding for a 902-amino-acid protein highly homologous to bovine CaCC. The murine gene (mCaCC) maps to chromosome 3 at the H2-H3 band and is expressed, as indicated by Northern blot analysis, in mouse skin and kidney but not in brain, heart, lung or testis. RT-PCR indicates a low expression in tracheal epithelial cells. Heterologous expression of mCaCC in Xenopus oocytes elicits membrane currents that are anion-selective and inhibited by DIDS and by niflumic acid, a blocker of the endogenous chloride current in oocytes. The identification of genes belonging to the CaCC family will help to evaluate their role as ion channels or channel regulators and their actual contribution to epithelial chloride transport. 相似文献
45.
Gimelli G Giglio S Zuffardi O Alhonen L Suppola S Cusano R Lo Nigro C Gatti R Ravazzolo R Seri M 《Human genetics》2002,111(3):235-241
Keratosis follicularis spinulosa decalvans (KFSD) or Siemens-1 syndrome is a rare X-linked disease of unknown etiology affecting the skin and the eye. Although most affected families are compatible with X-linked inheritance, KFSD appears to be clinically and genetically heterogeneous. So far, the gene has been mapped to Xp22.13p22.2 in two extended KFSD families. Analysis of additional recombination events in the first Dutch pedigree located the gene to an interval covering approximately 1 Mb between markers DXS7163 and DXS7593/DXS7105, whereas haplotype reconstruction in the second German family positioned the gene outside the previously identified region, proximal to marker DXS274. We report here the molecular characterization of an Xp21.1p22.12 duplication present in a patient affected with dosage-sensitive sex reversal (DSS) and KFSD. The duplicated region includes both the DAX1 gene (previously demonstrated to be responsible for DSS) and the KFSD interval, in which the gene encoding spermidine/spermine N(1)-acetyltransferase ( SSAT) is located. This enzyme catalyzes the N(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, the spermine can be converted to spermidine and the spermidine to putrescine. Overexpression of the SSAT enzyme in a mouse model results in putrescine accumulation and a phenotype with skin and hair abnormalities reminiscent of human KFSD. Analysis of polyamine metabolism in the cells of the patient indicated that the levels of metabolites such as putrescine, spermidine and spermine were consistent with the overexpression of the SSAT gene as in the murine model. Thus, we propose that overexpression of SSAT and the consequent putrescine accumulation are involved in the KFSD phenotype, at least in our propositus. 相似文献
46.
D'Adamo P Pinna M Capobianco S Cesarani A D'Eustacchio A Fogu P Carella M Seri M Gasparini P 《Human genetics》2003,112(3):319-320
Non-syndromic hearing loss is the most common sensory disorder in humans; 15%-20% of cases are transmitted as a dominant trait (NSDA) with 40 loci having been mapped and 16 genes having been identified. Here, we report the mapping of a novel NSDA locus, DFNA48, to chromosome 12q13-q14 in a large multigenerational Italian family. A maximum lod score of 3.31 was obtained with marker D12S83, whereas markers D12S347 and D12S1703 defined a region of approximately 18 cM. Positional candidate genes are being screened for deafness-causing mutations. 相似文献
47.
Yamato M Shiba T Ide T Seri N Kudo W Ando M Yamada K Kinugawa S Tsutsui H 《Molecular and cellular biochemistry》2012,359(1-2):161-167
Tumor necrosis factor-α (TNF-α) is one of the main mediators of inflammatory response activated by fatty acids in obesity, and this signaling through TNF-α receptor (TNFR) is responsible for obesity-associated insulin resistance. Recently, TNF-α has shown to affect lipid metabolism including the regulation of lipase activity and bile acid synthesis. However, there is scanty in vivo evidence for the involvement of TNF-α in this process, and the mechanistic role of TNFR remains unclear. In this study, TNFR2 knockout mice (R2KO) and wild-type (WT) mice were fed commercial normal diet (ND) or high-fat diet (HFD) for 8 weeks. In R2KO/HFD mice, the increase in body weight and the accumulation of fat were significantly ameliorated compared with WT/HFD mice in association with the decrease in plasma total cholesterol (137.7±3.1 vs. 98.6±3.1 mg/dL, P<0.005), glucose (221.9±14.7 vs. 167.3±8.1 mg/dL, P<0.01), and insulin (5.1±0.3 vs. 3.4±0.3 ng/mL, P<0.05). Fecal excretion of lipid contents was significantly increased in R2KO mice. In R2KO/HFD mice, the decrease in hepatic cholesterol-7a-hydroxylase activity, the rate-limiting enzyme in bile acid synthesis, was inhibited (1.7±0.2 vs. 8.1±1.0 pmol/min/mg protein, P<0.01). These results suggested that HFD-induced obesity with metabolic derangements could be ameliorated in mice lacking TNF-α receptor 2 via increasing fecal bile acid and lipid content excretion. Therefore, TNF-α signaling through TNFR2 is essentially involved in the bile acid synthesis and excretion of lipids, resulting in its beneficial effects. 相似文献
48.
Kei-ichi Seri Tsuyoshi Sakaki Masao Shibata Yoshihisa Inoue Hitoshi Ishida 《Bioresource technology》2002,81(3):257-260
Lanthanum(III) chloride was found to effectively catalyze the degradation of cellulose in water at 250 degrees C. The degradation conversion of cellulose in the presence of a catalytic amount of lanthanum chloride reached 80.3% after 180 s, which corresponded to the turnover number of 83, whereas the reaction did scarcely proceed in the absence of the catalyst. The degradation products were separately quantified as water-soluble (WS), methanol-soluble (MS), methanol-insoluble (MI), and gaseous (G) products. The HPLC and GC analyses revealed that the WS materials are mainly composed of 5-hydroxymethyl-2-furaldehyde (HMF), D-glucose, and levulinic acid. Cellobiose, the disaccharide component of cellulose, was scarcely detected during the reaction. 相似文献
49.
Babić-Ivancić V Avdagić SC Serić V Kontrec J Tucak A Füredi-Milhofer H Marković M 《Collegium antropologicum》2004,28(2):655-666
Metabolic parameters were determined in fasting blood serum, fasting first morning urine, and 24-hour urine of male patients with recurrent calcium oxalate stones (N = 26, age 39.1 +/- 6.2 years) as well as in male healthy controls (N = 18, age 35.0 +/- 7.1 years), recruited from the eastern part of Croatia. The 24-hour urinary calcium excretion was significantly higher (p < 0.01) for patients (5.6 +/- 2.5 mmol) than for controls (3.7 +/- 1.9 mmol), but potassium excretion was higher (p < 0.01) for controls (74.5 +/- 33.8 mmol) than for patients (49.2 +/- 15.7 mmol). The mean ionic activity product of calcium and oxalate ions, IAP(CaOx), calculated from the fasting first morning urine parameters, was 25% higher for patients than for controls, but the difference was not statistically significant (p > 0.05). Very strong correlation (r = 0.97) was obtained between IAP(CaOx) values and calculated Ogawa indices that were recommended for estimating the potential risk for calcium oxalate stone formation. 相似文献
50.
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene 总被引:5,自引:0,他引:5
Seri M Savino M Bordo D Cusano R Rocca B Meloni I Di Bari F Koivisto PA Bolognesi M Ghiggeri GM Landolfi R Balduini CL Zelante L Ravazzolo R Renieri A Savoia A 《Human genetics》2002,110(2):182-186
Epstein syndrome (EPTS) is an autosomal dominant disease characterized by nephritis, mild hearing loss, and thrombocytopenia with giant platelets. Renal and hearing abnormalities are indistinguishable from those observed in Fechtner syndrome (FTNS), an Alport-like variant. EPTS macrothrombocytopenia is similar to that described in FTNS, May-Hegglin anomaly (MHA), and Sebastian syndrome (SBS), three disorders caused by mutations in the nonmuscle heavy chain myosin IIA ( MYH9). Unlike FTNS, MHA, and SBS, EPTS does not show inclusion bodies in the leukocytes. The clinical features of EPTS and the chromosomal localization of the respective gene in the same region as MYH9 suggest that this disorder is allelic with the other giant platelet disorders. We identified a MYH9 missense mutation in two EPTS familial cases. In both families, an R702H substitution was found, probably inducing conformational changes to the myosin head. A different amino acid substitution at the same codon (R702C) has been previously identified in FTNS. On the basis of predictions from molecular modeling of the X-ray crystallographic structure of chick smooth muscle myosin, the mutated thiol reactive group of R702C may lead to intermolecular disulfide bridges, with the consequent formation of the inclusions typical of FTNS. On the contrary, the R702H mutation does not allow the protein to aggregate and thus to generate "D?hle-like" bodies, which are indeed absent in EPTS. In conclusion, our results extend the allelic heterogeneity of MYH9 mutations to another clinical syndrome and contribute to the clarification of the pathogenesis of the various inherited giant platelet disorders. 相似文献