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排序方式: 共有719条查询结果,搜索用时 15 毫秒
1.
2.
Chromosome abnormalities in tuberous sclerosis 总被引:1,自引:1,他引:0
Susi Scappaticci D. Cerimele M. Tondi Rossella Vivarelli A. Fois M. Fraccaro 《Human genetics》1988,79(2):151-156
Summary In fibroblasts cultured from biopsies of the skin lesions of six patients with tuberous sclerosis (TS) there was a variable but consistent degree of karyotypic variation. Premature centromere disjunction (PCD) of all or part of the chromosomes, micronuclei, an increased incidence of breaks, dicentric chromosomes and the presence of polyploid metaphases were found in all cultures. The PCD was of the type encountered in Roberts syndrome and its frequency varied from 8% to 30%. In metaphases with PCD of one and of two chromosomes, the chromosome involved were identified, and chromosome 3 was involved 21 times among 59 chromosomes with PCD. Chromosome 3 tends to be preferentially involved in dicentric formation. In lymphocyte cultures from the same patients there were no metaphases with PCD, but there was a slight increase of breaks and the presence of dicentric chromosomes, also involving chromosome 3. Polyploid metaphases were increased in some of the cases. Karyotypic variation can be considered a cellular phenotypic characteristic of TS in fibroblasts cultured from the skin lesions, and its type indicates disturbances in the mechanics of centromere division and of chromosome distribution at cell division. 相似文献
3.
In maize leaves nitrogen (N)-deprivation induced a significant decline of chlorophyl and total N contents. On the contrary,
sulphur (S) content increased with N-deprivation. The activities of ATP-sulphurylase and O-acetylserine sulphydrylase also
decreased with N-deprivation, but ATP-sulphurylase activity was more sensitive than O-acetylserine sulphydrylase activity
to N-deficiency both in whole leaf extracts and in isolated leaf cells. Finally, N-deprivation induced higher changes in activity
of the two enzymes in mesophyll protoplasts than in bundle sheath strands.
This research was supported by Consiglio Nazionale delle Ricerche-Special grant I.P.R.A.-Subproject 1. Paper N. 73. 相似文献
4.
5.
Rossella Serra Gloria Isani Otello Cattani Emilio Carpené 《Biological trace element research》1996,51(1):107-116
Gilthead were fed three diets. Diet A was the control diet, whereas diets B and C were supplemented with 300 and 900 mg Zn/kg,
respectively. Fish fed with diet C, at the end of the experiment, showed the lowest weight. Zinc concentrations presented
the higher values in gills, liver, and kidney. Muscle and brain had the lower mean values and showed a tight control of zinc
levels. These results reinforce the hypothesis that zinc in the CNS should be strictly controlled in order to maintain the
functional role of the metal. Significant differences in tissue zinc concentrations were obtained between fish fed different
amounts of zinc, the metal concentrations being higher in tissues of fish fed diet C. The tissue decrease of zinc, found at
the end of the experiment, may depend on a lower feed consumption or on different zinc requirements during the cold season.
These changes, even if not univocal among the three diets, may be associated with the life cycle of fish. Furthermore, copper
concentrations were little affected by the different concentrations of zinc in the three diets; liver and kidney presented
the highest concentrations; liver showed a significant decrease in copper content at the end of the experiment. We conclude
that: zinc concentrations of the diet may affect the gilthead weights and the tissual metal content; and zinc concentrations
in the diets, depending on the growth rate, may be varied depending on the season. 相似文献
6.
Timothy A. McCaffrey Domenick J. Falcone Diane Vicente Baoheng Du Seth Consigli Wolfgang Borth 《Journal of cellular physiology》1994,159(1):51-59
The transforming growth factor-β (TGF-β) family of proteins exert diverse and potent effects on proliferation, differentiation, and extracellular matrix synthesis. However, relatively little is known about the stability or processing of endogenous TGF-β activity in vitro or in vivo. Our previous work indicated that (1) TGF-β1 has strong heparin-binding properties that were not previously recognized because of neutralization by iodination, and (2) heparin, and certain other polyanions, could block the binding of TGF-β1 to α2-macroglobulin (α2-M). The present studies investigated the influence of heparin-like molecules on the stability of the TGF-β1 signal in the pericellular environment. The results indicate that heparin and fucoidan, a naturally occurring sulfated L-fucose polymer, suppress the formation of an initial non-covalent interaction between 125I-TGF-β1 and activated α2-M. Electrophoresis of 125I-TGF-β1 showed that fucoidan protects TGF-β1 from proteolytic degradation by plasmin and trypsin. While plasmin caused little, if any, activation of latent TGF-β derived from vascular smooth muscle cells (SMC), plasmin degraded acid-activated TGF-β, and purified TGF-β1, and this degradation was inhibited by fucoidan. In vitro, heparin and fucoidan tripled the half-life of 125I-TGF-β1 and doubled the amount of cell-associated 125I-TGF-β1. Consistent with this protective effect, heparin- and fucoidan-treated SMC demonstrated elevated levels of active, but not latent, TGF-β activity. © 1994 wiley-Liss, Inc. 相似文献
7.
Identification of a gene that complements an Arabidopsis mutant deficient in chloroplast omega 6 desaturase activity. 总被引:3,自引:1,他引:2
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Membrane lipids of the fad6 (formerly fadC) mutant of Arabidopsis, which is deficient in chloroplast omega 6 desaturase activity, have increased levels of monounsaturated fatty acids and are deficient in trienoic fatty acids. A putative fad6 cDNA clone was isolated by probing a cDNA library with a degenerate oligonucleotide based on a conserved region within known omega 3 desaturase genes. Expression of the cDNA in transgenic plants of a fad6 mutant restored normal levels of all fatty acids. When used as a hybridization probe, the cDNA identified a restriction fragment-length polymorphism that co-segregated with the fad6 mutation. Thus, on the basis of a genetic complementation test and genetic map position, the fad6 gene is encoded by the cDNA. The cDNA encoded a 418-amino acid polypeptide of 47,727 D that displayed a high degree of sequence similarity to a delta 12 desaturase from the cyanobacterium Synechocystis. The fad6 gene exhibited less sequence homology to any known higher plant desaturase, including an endoplasmic reticulum-localized omega 6 desaturase corresponding to the Arabidopsis fad2 gene. 相似文献
8.
Evidence for an age-related dysfunction in the antiproliferative response to transforming growth factor-beta in vascular smooth muscle cells. 总被引:3,自引:0,他引:3
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Previous studies have indicated that aged animals show an increased intimal hyperplasia after arterial injury. The present studies examined the hypothesis that the increased serum-free proliferation of aged smooth muscle cells (SMC), in vitro, was due to a loss of an antiproliferative signal, such as transforming growth factor-beta 1 (TGF-beta 1). Northern blot analysis of the mRNA derived from old (> 19 mo) or young (3-4 mo) rat aortic SMC indicated that both groups had an equivalent level of the 2.5 kB TGF-beta 1 message. Metabolic labeling with 35S-methionine and immunoprecipitation for TGF-beta 1 confirmed the de novo synthesis of TGF-beta 1 in rat SMC. Old and young SMC supernatants showed equal levels of active or latent (acid-activated) TGF-beta activity. Despite the similarities in the production of TGF-beta 1, old SMC were refractory to inhibition by TGF-beta 1, whereas young SMC were markedly inhibited (80%) by low levels of TGF-beta 1 (IC50 < 5 pg/ml). Binding studies at 4 degrees C indicated that old SMC exhibited reduced binding capacity for 125I-TGF-beta 1. Cross-linking studies confirmed that old SMC showed reduced binding of 125I-TGF-beta 1 to membrane sites corresponding to the high molecular weight type III receptor, as well as the 85-kDa type II and 65-kDa type I receptor. However, at 37 degrees C, old SMC degraded 125I-TGF-beta 1 more rapidly than young SMC. Combined, this data suggests that SMC derived from older animals are capable of normal production of TGF-beta 1 but fail to respond to the autocrine growth inhibitory effects of this agent, thereby leading to enhanced proliferation. 相似文献
9.
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy 总被引:14,自引:0,他引:14
G. Simoni B. Brambati C. Danesino F. Rossella G. L. Terzoli M. Ferrari M. Fraccaro 《Human genetics》1983,63(4):349-357
Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures. We report in detail the series of experiments which led to (1) successful, rapidly growing cell cultures practically free of maternal cell contamination (the use of hormone-supplemented Chang medium greatly increased the growth rate); (2) an efficient direct method to obtain high quality metaphases from the Langhans cells of the cytotrophoblast tissue and with which the fetal karyotype is defined within a few hours of chorionic villi sampling; and (3) successful testing for the activity of eight enzymes directly from the villi samples, thus showing that this material is suitable for a rapid, direct diagnosis of the related metabolic diseases. 相似文献
10.
Nucleotide sequence, transcriptional analysis, and expression of genes encoded within the form I CO2 fixation operon of Rhodobacter sphaeroides 总被引:19,自引:0,他引:19
In Rhodobacter sphaeroides, many of the structural genes encoding enzymes of the Calvin cycle are duplicated and grouped within two separate clusters. In this study, the nucleotide sequence of a 5627-base pair region of DNA that contains the form I Calvin cycle gene cluster has been determined. The five open reading frames are arranged in the order, fbpA prkA cfxA rbcL rbcS and are tightly linked and oriented in the same direction. The results of insertional mutagenesis studies suggest the genes are organized within an operon. Consistent with this proposal, the cfxA gene has been tentatively identified as a gene encoding the Calvin cycle enzyme, aldolase. Measurement of the activities of various Calvin cycle enzymes in the insertion mutants showed that inactivation of genes within one CO2 fixation cluster affected expression of genes within the second cluster, revealing a complex regulatory network. 相似文献