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排序方式: 共有825条查询结果,搜索用时 187 毫秒
1.
2.
Nurit Eyal Nurit Firon Sylvia Wilder Edwin H. Kolodny Mia Horowitz 《Human genetics》1991,87(3):328-332
Summary Single-stranded cDNA was prepared from RNA obtained from a patient with type 1 Gaucher disease. The cDNA was amplified in vitro and analyzed by sequencing. Three base-pair changes were identified which included a G to C transversion at nucleotide 3119 of the active gene (Asp140His), an A to C transversion at nucleotide 3170 (Lys157Gln) and a G to A change at nucleotide 5309 (Glu326Lys). To study the mode of inheritance of the three different base-pair changes, genomic DNA was prepared from blood or skin fibroblasts of several family members. Genomic glucocerebrosidase DNA sequences were amplified and subjected to hybridization with allele-specific oligonucleotides (ASOs). The hybridization profiles demonstrated that two of the basepair changes originated from the mother and were transmitted to her two affected sons and to a grandchild, while the third base-pair change, originating from the father, was transmitted to his two affected sons, a carrier daughter and a second grandchild. Tests of other patients with Gaucher disease failed to disclose the presence of the three base-changes. This is a unique family with three base-pair changes tightly linked to Gaucher disease. 相似文献
3.
Cell interaction with the extracellular matrices produced by endothelial cells and fibroblasts 总被引:6,自引:0,他引:6
R. Fridman Y. Alon F. Doljanski Z. Fuks I. Vlodavsky 《Experimental cell research》1985,158(2):461-476
The extracellular matrices (ECM) produced by cultured bovine corneal endothelial cells and chick embryo fibroblasts were compared for their induction of cell attachment, proliferation and differentiation. The corneal endothelial ECM (cECM) induced a comparable and rapid attachment and flattening of both human Ewing's sarcoma and colon carcinoma cells which utilize fibronectin and laminin as adhesive glycoproteins, respectively. In contrast, the ECM produced by fibroblasts (fECM) readily supported the attachment and flattening of Ewing's sarcoma cells but had only a small effect on the carcinoma cells. Vascular endothelial cells were stimulated to proliferate by both types of matrices, but to a lesser extent by the fECM. In contrast, the formation of a closely apposed, non-overlapping and contact-inhibited endothelial cell monolayer was only dictated by the cECM. Vascular endothelial cells cultured on fECM grew on top of each other and incorporated [3H]thymidine even late at confluency. Neurite outgrowth (ciliary ganglion cells) and network formation (adult rat oligodendrocytes) were promoted by both types of matrices but in a more consistent manner with the cECM. It is likely that the small amounts of laminin deposited by chick embryo fibroblasts into their ECM are responsible for its efficient induction of neurite outgrowth and for the limited degree of carcinoma cell attachment and flattening. It is thus demonstrated that differences in chemical composition and supramolecular arrangement between cECM and fECM result not only in differences in the attachment, spreading and proliferative responses of cells but also in the expression of their characteristic morphological appearance and differentiated functions. 相似文献
4.
Young queens of V. orientalis collected from nests in the field at the end of the season, just before the hornets naturally enter hibernation, were evaluated for longevity under varying laboratory conditions. Queens kept under full illumination and heating had a briefer life span than did queens kept under full illumination alone or under complete heating alone. All, however, were shorter lived than control queens kept under the thermal and photoperiodic conditions prevailing at that time in nature. Feeding of theophylline to the queens caused them to emerge from hibernation and succumb to an early death. Feeding of allopurinol to the queens diminished their activities relative to control queens but did not abbreviate their life span compared to the control queens. 相似文献
5.
Molecular heterogeneity of murine mast cell Fc gamma receptors 总被引:5,自引:0,他引:5
M Benhamou C Bonnerot W H Fridman M Da?ron 《Journal of immunology (Baltimore, Md. : 1950)》1990,144(8):3071-3077
6.
Summary The kinetic and stability characteristics of crude extract nitrile hydratase fromBrevibacterium R-312 were studied for the hydration of 3-cyanopyridine to nicotinamide. The enzyme was substrate and product inhibited and had the following kinetic constants:K
m
=28 mM;K
p
=36 mM;K
s
=155 mM;V
m
=5.8 mol/min/mg protein (25°C). Itsmaximum temperature and pH (phosphate buffer) were 35°C and 8.0, respectively and it had half-lives of 50 days, 10 days and 1 day at 4°C, 10°C and 25°C, respectively. The crude extract also exhibited amidase activity on nicotinamide, but it became significant only at nicotinamide concentrations greater than 300 mM. Mathematical models for batch and fed-batch hydrations were developed to account for substrate and product inhibitions and for enzyme decay. They predicted to within 10% experimental results for initial substrate and final product concentrations up to 300 mM; the accuracies decreased at higher concentrations primarily because of the relatively rapid hydrolysis of nicotinamide. 相似文献
7.
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. 总被引:5,自引:1,他引:4
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M Horowitz G Tzuri N Eyal A Berebi E H Kolodny R O Brady N W Barton A Abrahamov A Zimran 《American journal of human genetics》1993,53(4):921-930
The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DNA was prepared from peripheral blood, active glucocerebrosidase sequences were amplified by using the PCR technique, and the mutations were identified by using the allele-specific oligonucleotide hybridization method. The N37OS mutation appeared in 69.77% of the mutated alleles in Jewish patients and in 22.86% of the mutated alleles in non-Jews. The 84GG mutation, which has not been found so far among non-Jewish patients, existed in 10.17% of the disease alleles among Jewish patients. The IVS + 1 mutation constituted 2.26% of the disease alleles among Jewish patients and 1.43% among the non-Jewish patients. RecTL, a complex allele containing four single-base-pair changes, occurred in 2.26% of the alleles in Jewish patients and was found in two (1.43%) of the patients of non-Jewish extraction. Another complex allele, designated "RecNciI" and containing three single-point mutations, appeared in 7.8% of alleles of non-Jewish patients and in only two (0.56%) of the Jewish families. The prevalence of the L444P mutation among non-Jewish Gaucher patients was 31.43%, while its prevalence among Jewish patients was only 4.24%. The prevalence of two other point mutations--D409H and R463C--was 5.00% and 3.57%, respectively, among non-Jewish patients and was not found among the Jewish Gaucher patient population. The prevalence of the R496H mutation, found so far only among Jewish patients, was 1.13%. The results presented demonstrate that seven mutations identify 90.40% of the mutations among Jewish patients and that these seven mutations allow diagnosis of only 73.52% of the non-Jewish patients. Identification of additional mutant alleles will enhance the accuracy of carrier detection. 相似文献
8.
Eyal Shochat 《Oikos》2004,106(3):622-626
The underlying evolutionary mechanisms of urban bird populations have hardly been studied. High food density and low predation risk serve to explain the global pattern of extremely high urban bird population densities. Both these bottom-up and top-down effects are paradoxical since the per capita amount of food is small due to competition, and domestic predator density is high in cities. The bottom-up paradox can be resolved by taking into account the high food resource-predictability in cities. Concerning the top-down effect, recent studies suggest that at least when it comes to nest predation the effect of cats is minor. I suggest that the combination of high food predictability and low predation risk in cities alter bird foraging behaviour, which in turn affects population dynamics. In terms of density, the result is that bird populations exceed the carrying capacity of the urban environment, costing heavily on body condition and/or life span. Under such conditions the population should consist of a few winners and many losers. Only the winners have sufficient access to food resources and the opportunity to reproduce. The highly predictable continuous input of food in the urban environment allows them to "live on their credit". They may trade off between offspring body condition and clutch size. In the lack of predation, the losers among the fledglings may survive for a relatively long period, getting just enough energy to survive. Though they may never become healthy enough to reproduce, they will have a major contribution to the observed population density. Results of several case studies seem to support the credit card hypothesis and suggest that it can serve as a general rule for the evolution of animal populations and communities in highly predictable human managed environments. 相似文献
9.
Induced and constitutive murine IgG-binding factors (IgG-BFs) have been purified by affinity chromatography from supernatants of T-cells preincubated with or without murine monoclonal IgG1 and IgG2b, respectively. IgG-BF Mr values have been studied by SDS-polyacrylamide gel electrophoresis (PAGE) after treatment with SDS under conditions which do not noticeably alter their immunosuppressive activities on the secondary in vitro IgG antibody response. Suppression was recovered at Mr values of 80000, 40000 and 20000. When induced IgG-BF was tested, the isotype-specific suppressive activity was found only at 40 kDa. The 20-kDa moiety appeared to derive from the 40-kDa component and the material found at 80 kDa exerted non-specific immunosuppressive effects. We conclude therefore that isotype-specific IgG-BF has an apparent Mr of 40000. 相似文献
10.
Biological activities of peptides and peptide analogues derived from common sequences present in thrombospondin, properdin, and malarial proteins 总被引:6,自引:0,他引:6
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G P Tuszynski V L Rothman A H Deutch B K Hamilton J Eyal 《The Journal of cell biology》1992,116(1):209-217
Thrombospondin (TSP), a major platelet-secreted protein, has recently been shown to have activity in tumor cell metastasis, cell adhesion, and platelet aggregation. The type 1 repeats of TSP contain two copies of CSVTCG and one copy of CSTSCG, per each of the three polypeptide chains of TSP and show homology with peptide sequences found in a number of other proteins including properdin, malarial circumsporozoite, and a blood-stage antigen of Plasmodium falciparum. To investigate whether these common sequences functioned as a cell adhesive domain in TSP, we assessed the effect of peptides corresponding to these sequences and an antibody raised against one of these sequences, CSTSCG, in three biological assays which depend, in part, on the cell adhesive activity of TSP. These assays were TSP-dependent cell adhesion, platelet aggregation, and tumor cell metastasis. We found that a number of peptides homologous to CSVTCG promoted the adhesion of a variety of cells including mouse B16-F10 melanoma cells, inhibited platelet aggregation and tumor cell metastasis, whereas control peptides had no effect. Anti-CSTSCG, which specifically recognized TSP, inhibited TSP-dependent cell adhesion, platelet aggregation, and tumor cell metastasis, whereas control IgG had no effect. These results suggest that CSVTCG and CSTSCG present in the type I repeats function in the adhesive interactions of TSP that mediate cell adhesion, platelet aggregation, and tumor cell metastasis. Peptides, based on the structure of these repeats, may find wide application in the treatment of thrombosis and in the prevention of cancer spread. 相似文献