全文获取类型
收费全文 | 88篇 |
免费 | 6篇 |
出版年
2021年 | 2篇 |
2019年 | 2篇 |
2016年 | 2篇 |
2015年 | 6篇 |
2014年 | 3篇 |
2013年 | 3篇 |
2012年 | 8篇 |
2011年 | 3篇 |
2010年 | 2篇 |
2009年 | 7篇 |
2008年 | 3篇 |
2007年 | 4篇 |
2006年 | 4篇 |
2005年 | 2篇 |
2004年 | 1篇 |
2003年 | 5篇 |
2002年 | 6篇 |
2001年 | 3篇 |
2000年 | 2篇 |
1997年 | 1篇 |
1996年 | 2篇 |
1995年 | 2篇 |
1993年 | 1篇 |
1992年 | 2篇 |
1991年 | 3篇 |
1990年 | 3篇 |
1989年 | 1篇 |
1988年 | 2篇 |
1987年 | 3篇 |
1986年 | 1篇 |
1985年 | 1篇 |
1983年 | 1篇 |
1982年 | 1篇 |
1981年 | 1篇 |
1960年 | 1篇 |
排序方式: 共有94条查询结果,搜索用时 15 毫秒
51.
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. 总被引:7,自引:2,他引:5
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
G Sebastio M P Sperandeo M Panico R de Franchis J P Kraus G Andria 《American journal of human genetics》1995,56(6):1324-1333
Four new mutations in the cystathionine beta-synthase (CBS) gene have been identified in Italian patients with homocystinuria. The first mutation is a G-to-A transition at base 374 in exon 3, causing an arginine-to-glutamic acid substitution at position 125 of the protein (R125Q). This mutation has been found in homozygosity in a patient partially responsive to pyridoxine treatment. The second mutation is a C-to-T transition at base 770 in exon 7, causing a threonine-to-methionine substitution at amino acid 257 of the protein (T257M). This mutation has been observed in homozygosity in a patient nonresponsive to the cofactor treatment. The third mutation, found in heterozygosity in a patient responsive to pyridoxine treatment, is an insertion of 68 bp in exon 8 at base 844, which introduces a premature termination codon. The fourth mutation is C-to-T transition in exon 2 at base 262, causing a proline-to-serine substitution at position 88 of the protein (P88S). This mutation is carried on a single allele in three affected sisters responsive to the cofactor treatment. In addition, six previously reported mutations (A114V, E131D, P145L, I278T, G307S, and A1224-2C) have been tested in 14 independent Italian families. Mutations A114V and I278T are carried by three and by seven independent alleles, respectively. The other four mutations--including G307S and A1224-2C, common among northern European patients--have not been detected. 相似文献
52.
53.
A filovirus-unique region of Ebola virus nucleoprotein confers aberrant migration and mediates its incorporation into virions
下载免费PDF全文
![点击此处可从《Journal of virology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Shi W Huang Y Sutton-Smith M Tissot B Panico M Morris HR Dell A Haslam SM Boyington J Graham BS Yang ZY Nabel GJ 《Journal of virology》2008,82(13):6190-6199
The Ebola virus nucleoprotein (NP) is an essential component of the nucleocapsid, required for filovirus particle formation and replication. Together with virion protein 35 (VP35) and VP24, this gene product gives rise to the filamentous nucleocapsid within transfected cells. Ebola virus NP migrates aberrantly, with an apparent molecular mass of 115 kDa, although it is predicted to encode an approximately 85-kDa protein. In this report, we show that two domains of this protein determine this aberrant migration and that this region mediates its incorporation into virions. These regions, amino acids 439 to 492 and amino acids 589 to 739, alter the mobility of Ebola virus NP by sodium dodecyl sulfate-polyacrylamide gel electrophoresis by 5 and 15 kDa, respectively, and confer similar effects on a heterologous protein, LacZ, in a position-independent fashion. Furthermore, when coexpressed with VP40, VP35, and VP24, this region mediated incorporation of NP into released viruslike particles. When fused to chimeric paramyxovirus NPs derived from measles or respiratory syncytial virus, this domain directed these proteins into the viruslike particle. The COOH-terminal NP domain comprises a conserved highly acidic region of NP with predicted disorder, distinguishing Ebola virus NPs from paramyxovirus NPs. The acidic character of this domain is likely responsible for its aberrant biochemical properties. These findings demonstrate that this region is essential for the assembly of the filamentous nucleocapsids that give rise to filoviruses. 相似文献
54.
Role of extracellular polymeric substances (EPS) production in bioaggregation: application to wastewater treatment 总被引:1,自引:0,他引:1
55.
Bernardi ML Giangrieco I Camardella L Ferrara R Palazzo P Panico MR Crescenzo R Carratore V Zennaro D Liso M Santoro M Zuzzi S Tamburrini M Ciardiello MA Mari A 《PloS one》2011,6(11):e27856
Background
Food allergy is increasingly common worldwide. Tools for allergy diagnosis measuring IgE improved much since allergenic molecules and microarrays started to be used. IgE response toward allergens belonging to the same group of molecules has not been comprehensively explored using such approach yet.Objective
Using the model of lipid transfer proteins (LTPs) from plants as allergens, including two new structures, we sought to define how heterogeneous is the behavior of homologous proteins.Methods
Two new allergenic LTPs, Act d 10 and Act c 10, have been identified in green (Actinidia deliciosa) and gold (Actinidia chinensis) kiwifruit (KF), respectively, using clinically characterized allergic patients, and their biochemical features comparatively evaluated by means of amino acid sequence alignments. Along with other five LTPs from peach, mulberry, hazelnut, peanut, mugwort, KF LTPs, preliminary tested positive for IgE, have been immobilized on a microarray, used for IgE testing 1,003 allergic subjects. Comparative analysis has been carried out.Results
Alignment of Act d 10 primary structure with the other allergenic LTPs shows amino acid identities to be in a narrow range between 40 and 55%, with a number of substitutions making the sequences quite different from each other. Although peach LTP dominates the IgE immune response in terms of prevalence, epitope recognition driven by sequence heterogeneity has been recorded to be distributed in a wide range of behaviors. KF LTPs IgE positive results were obtained in a patient subset IgE positive for the peach LTP. Anyhow, the negative results on homologous molecules allowed us to reintroduce KF in patients'' diet.Conclusion
The biochemical nature of allergenic molecule belonging to a group of homologous ones should not be taken as proof of immunological recognition as well. The availability of panels of homologous molecules to be tested using microarrays is valuable to address the therapeutic intervention. 相似文献56.
Bérangère Tissot Alessio Ceroni Maria Panico Antonietta Capone Anne Dell Howard R. Morris 《FEBS letters》2009,583(11):1728-8262
This invited paper reviews the study of protein glycosylation, commonly known as glycoproteomics, beginning with the origins of the subject area in the early 1970s shortly after mass spectrometry was first applied to protein sequencing. We go on to describe current analytical approaches to glycoproteomic analyses, with exemplar projects presented in the form of the complex story of human glycodelin and the characterisation of blood group H eptitopes on the O-glycans of gp273 from Unio elongatulus. Finally, we present an update on the latest progress in the field of automated and semi-automated interpretation and annotation of these data in the form of GlycoWorkBench, a powerful informatics tool that provides valuable assistance in unravelling the complexities of glycoproteomic studies. 相似文献
57.
Murphy N Norat T Ferrari P Jenab M Bueno-de-Mesquita B Skeie G Dahm CC Overvad K Olsen A Tjønneland A Clavel-Chapelon F Boutron-Ruault MC Racine A Kaaks R Teucher B Boeing H Bergmann MM Trichopoulou A Trichopoulos D Lagiou P Palli D Pala V Panico S Tumino R Vineis P Siersema P van Duijnhoven F Peeters PH Hjartaker A Engeset D González CA Sánchez MJ Dorronsoro M Navarro C Ardanaz E Quirós JR Sonestedt E Ericson U Nilsson L Palmqvist R Khaw KT Wareham N Key TJ Crowe FL Fedirko V Wark PA Chuang SC 《PloS one》2012,7(6):e39361
58.
Panico AM Geronikaki A Mgonzo R Cardile V Gentile B Doytchinova I 《Bioorganic & medicinal chemistry》2003,11(13):2983-2989
A series of 2-dialkylamino-N-(4-substituted thiazolyl-2)acetamides and 3-dialkylamino-N-(4-substituted thiazolyl-2)propionamides were synthesized and evaluated for their anti-inflammatory activity. Encouraging results led us to investigate the effect of these compounds on NO production and GAGs release. Their effects were evaluated in vitro on the metabolism of pig cartilage, treated with IL-1beta. The amount of glycosaminoglycans (GAGs) and the production of nitric oxide (NO) in the culture medium were determined. The results, obtained, showed that all compounds, in the presence of IL-1beta, blocked the cartilage breakdown, with different behavior. A quantitative structure-activity relationship (QSAR) study was performed. 相似文献
59.
The MPB83 antigen from Mycobacterium bovis contains O-linked mannose and (1-->3)-mannobiose moieties
Michell SL Whelan AO Wheeler PR Panico M Easton RL Etienne AT Haslam SM Dell A Morris HR Reason AJ Herrmann JL Young DB Hewinson RG 《The Journal of biological chemistry》2003,278(18):16423-16432
Mycobacterium tuberculosis and Mycobacterium bovis, the causative agents of human and bovine tuberculosis, have been reported to express a range of surface and secreted glycoproteins, although only one of these has been subjected to detailed structural analysis. We describe the use of a genetic system, in conjunction with lectin binding, to characterize the points of attachment of carbohydrate moieties to the polypeptide backbone of a second mycobacterial glycoprotein, antigen MPB83 from M. bovis. Biochemical and structural analysis of the native MPB83 protein and derived peptides demonstrated the presence of 3 mannose units attached to two threonine residues. Mannose residues were joined by a (1 --> 3) linkage, in contrast to the (1 --> 2) linkage previously observed in antigen MPT32 from M. tuberculosis and the (1 --> 2) and (1 --> 6) linkages in other mycobacterial glycolipids and polysaccharides. The identification of glycosylated antigens within the M. tuberculosis complex raises the possibility that the carbohydrate moiety of these glycoproteins might be involved in pathogenesis, either by interaction with mannose receptors on host cells, or as targets or modulators of the cell-mediated immune response. Given such a possibility characterization of mycobacterial glycoproteins is a step toward understanding their functional role and elucidating the mechanisms of mycobacterial glycosylation. 相似文献
60.
Y Wang J Tan M Sutton-Smith D Ditto M Panico R M Campbell N M Varki J M Long J Jaeken S R Levinson A Wynshaw-Boris H R Morris D Le A Dell H Schachter J D Marth 《Glycobiology》2001,11(12):1051-1070
The congenital disorders of glycosylation (CDGs) are recent additions to the repertoire of inherited human genetic diseases. Frequency of CDGs is unknown since most cases are believed to be misdiagnosed or unrecognized. With few patients identified and heterogeneity in disease signs noted, studies of animal models may provide increased understanding of pathogenic mechanisms. However, features of mammalian glycan biosynthesis and species-specific variations in glycan repertoires have cast doubt on whether animal models of human genetic defects in protein glycosylation will reproduce pathogenic events and disease signs. We have introduced a mutation into the mouse germline that recapitulates the glycan biosynthetic defect responsible for human CDG type IIa (CDG-IIa). Mice lacking the Mgat2 gene were deficient in GlcNAcT-II glycosyltransferase activity and complex N-glycans, resulting in severe gastrointestinal, hematologic, and osteogenic abnormalities. With use of a lectin-based diagnostic screen for CDG-IIa, we found that all Mgat2-null mice died in early postnatal development. However, crossing the Mgat2 mutation into a distinct genetic background resulted in a low frequency of survivors. Mice deficient in complex N-glycans exhibited most CDG-IIa disease signs; however, some signs were unique to the aged mouse or are prognostic in human CDG-IIa. Unexpectedly, analyses of N-glycan structures in Mgat2-null mice revealed a novel oligosaccharide branch on the "bisecting" N-acetylglucosamine. These genetic, biochemical, and physiologic studies indicate conserved functions for N-glycan branches produced in the Golgi apparatus among two mammalian species and suggest possible therapeutic approaches to GlcNAcT-II deficiency. Our findings indicate that human genetic disease due to aberrant protein glycosylation can be modeled in the mouse to gain insights into N-glycan-dependent physiology and the pathogenesis of CDG-IIa. 相似文献