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排序方式: 共有67条查询结果,搜索用时 15 毫秒
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Familial mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis 总被引:12,自引:9,他引:3 下载免费PDF全文
Ivona Aksentijevich Elon Pras Luis Gruberg Yang Shen Katherine Holman Sharon Helling Leandrea Prosen Grant R. Sutherland Robert I. Richards Michael Dean Mordechai Pras Daniel L. Kastner 《American journal of human genetics》1993,53(3):644-651
Familial Mediterranean fever (FMF) is an autosomal recessive disease causing attacks of fever and serositis. The FMF gene (designated “MEF”) is on 16p, with the gene order 16cen–D16S80–MEF–D16S94–D16S283–D16S291–16pter. Here we report the association of FMF susceptibility with alleles at D16S94, D16S283, and D16S291 among 31 non-Ashkenazi Jewish families (14 Moroccan, 17 non-Moroccan). We observed highly significant associations at D16S283 and D16S291 among the Moroccan families. For the non-Moroccans, only the allelic association at D16S94 approached statistical significance. Haplotype analysis showed that 18/25 Moroccan FMF chromosomes, versus 0/21 noncarrier chromosomes, bore a specific haplotype for D16S94–D16S283–D16S291. Among non-Moroccans this haplotype was present in 6/26 FMF chromosomes versus 1/28 controls. Both groups of families are largely descended from Jews who fled the Spanish Inquisition. The strong haplotype association seen among the Moroccans is most likely a founder effect, given the recent origin and genetic isolation of the Moroccan Jewish community. The lower haplotype frequency among non-Moroccan carriers may reflect differences both in history and in population genetics. 相似文献
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R B Helling 《Journal of bacteriology》1995,177(9):2592-2593
icdB mutations map at 16 min, lead to the specific loss of citrate synthase, and are complemented by a prophage containing a gltA+ gene. Thus, they are allelic with gltA. 相似文献
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B Weske R D Dennis F Helling M Keller G A Nores J Peter-Katalinic H Egge U Dabrowski H Wiegandt 《European journal of biochemistry》1990,191(2):379-388
The two major components of the acidic glycolipid fraction from the pupae of Calliphora vicina were isolated using high-performance liquid chromatography. The acidic moiety was identified as glucuronic acid by beta-glucuronidase cleavage and gas chromatographic analysis as the pentafluoropropionyl derivative. The structures of the carbohydrate moiety were elucidated by peracetylation, methylation, exoglycosidase cleavage, fast-atom-bombardment mass spectrometric and 1H-nuclear magnetic resonance spectroscopic analysis. The only difference between the two hexasaccharide variants was the presence, in one of them, of a between the two hexasaccharide variants was the presence, in one of them, of a phosphoethanolamine (AeP) sidechain on the third sugar of the sequence, i.e. N-acetylglucosamine. The composition of the ceramide moiety was dominated by a C20:0 fatty acid (arachidic acid) and a C14:1 sphingoid base (tetradecasphing-4-enine). The chemical structures of the two insect acidic glycosphingolipids were determined to be: GlcA(beta 1-3)Gal-(beta 1-3)GalNAc(beta 1-4)GlcNAc(beta 1-3)Man (beta 1-4)Glc(beta 1-1)Cer; GlcA(beta 1-3)Gal(beta 1-3)GalNAc(beta 1-4)[2AeP-6]-GlcNAc(beta 1-3) Man(beta 1-4)Glc(beta 1-1)Cer. Such glucuronic-acid-containing insect glycosphingolipids have been given the generic name arthrosides, with the implied synonymity to the gangliosides. 相似文献
5.
Helling RB Janes BK Kimball H Tran T Bundesmann M Check P Phelan D Miller C 《Journal of bacteriology》2002,184(13):3699-3703
6.
Potassium ions are a prerequisite for the development and regulation of sensory cell stimulation in the inner ear. From the potassium-rich endolymph the ions flow into the sensory cells apically and are released basolaterally. After transport pathways of various lengths potassium is released again into the endolymph - in the cochlea by marginal cells of the stria vascularis, in the vestibular labyrinth by dark cells. While this long recycling pathway is relatively well-known in the cochlea, few studies have been conducted on the semicircular canal ampullae (SCCA) where its morphological basis is largely unknown. According to the present electron microscopic findings, potassium ions are initially released into the extracellular space during stimulation of the sensory cells and then absorbed by supporting and light cells. Finally they are transported transcellularly over numerous very long gap junctions into the region of the dark cells. From here they move to an extracellular compartment, which is more or less completely sealed off basally by basal plates of the light cells. Apically the intercellular space between light and dark cells is sealed by junctional complexes. This newly identified space in the SCCA corresponds to the extracellular compartment between the marginal and intermediate cells in the stria vascularis. At both sites, the cochlea and the SCCA, this probably serves as a regulatory valve, reservoir or storage space, particularly for potassium ions. It is likely that the different morphology of the ion transport pathways is related to the different flow levels of potassium ions expressed by the different levels of the so-called endocochlear potential and concomitant movement of other ions in the cochlea and SCCA. 相似文献
7.
Balczun C Siemanowski J Pausch JK Helling S Marcus K Stephan C Meyer HE Schneider T Cizmowski C Oldenburg M Höhn S Meiser CK Schuhmann W Schaub GA 《Insect biochemistry and molecular biology》2012,42(4):240-250
Two aspartate protease encoding complementary deoxyribonucleic acids (cDNA) were characterised from the small intestine (posterior midgut) of Triatoma infestans and the corresponding genes were named TiCatD and TiCatD2. The deduced 390 and 393 amino acid sequences of both enzymes contain two regions characteristic for cathepsin D proteases and the conserved catalytic aspartate residues forming the catalytic dyad, but only TiCatD2 possesses an entire C-terminal proline loop. The amino acid sequences of TiCatD and TiCatD2 show 51-58% similarity to other insect cathepsin D-like proteases and, respectively, 88 and 58% similarity to the aspartate protease ASP25 from T. infestans available in the GenBank database. In phylogenetic analysis, TiCatD and ASP25 clearly separate from cathepsin D-like sequences of other insects, TiCatD2 groups with cathepsin D-like proteases with proline loop. The activity of purified TiCatD and TiCatD2 was highest between pH 2 and 4, respectively, and hence, deviate from the pH values of the lumen of the small intestine, which varied in correlation with the time after feeding between pH 5.2 and 6.7 as determined by means of micro pH electrodes. Both cathepsins, TiCatD and TiCatD2, were purified from the lumen of the small intestine using pepstatin affinity chromatography and identified by nanoLC-ESI-MS/MS analysis as those encoded by the cDNAs. The proteolytic activity of the purified enzymes is highest at pH 3 and the respective genes are expressed in the both regions of the midgut, stomach (anterior midgut) and small intestine, not in the rectum, salivary glands, Malpighian tubules or haemocytes. The temporal expression pattern of both genes in the small intestine after feeding revealed a feeding dependent regulation for TiCatD but not for TiCatD2. 相似文献
8.
Ultraviolet light-induced recombination 总被引:2,自引:0,他引:2
R B Helling 《Biochemical and biophysical research communications》1973,55(3):752-757
Stimulation of transduction in by ultraviolet irradiation of the transducing phage P1 requires the nuclease but not the product or DNA polymerase I. It is hypothesized that the first step in “normal” recombination can be bypassed by any procedure generating single-stranded ends of DNA (as, for example, by nuclease activity). 相似文献
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Alexandra Schwarz Stefan Helling Nicolas Collin Clarissa R. Teixeira Nora Medrano-Mercado Jen C. C. Hume Teresa C. Assump??o Katrin Marcus Christian Stephan Helmut E. Meyer José M. C. Ribeiro Peter F. Billingsley Jesus G. Valenzuela Jeremy M. Sternberg Günter A. Schaub 《PLoS neglected tropical diseases》2009,3(10)