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51.
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis 总被引:7,自引:2,他引:7
Li DY; Toland AE; Boak BB; Atkinson DL; Ensing GJ; Morris CA; Keating MT 《Human molecular genetics》1997,6(7):1021-1028
Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular
disease that affects the aorta, carotid, coronary and pulmonary arteries.
Previous molecular genetic data have led to the hypothesis that SVAS
results from mutations in the elastin gene, ELN. In these studies, the
disease phenotype was linked to gross DNA rearrangements (35 and 85 kb
deletions and a translocation) in three SVAS families. However, gross
rearrangements of ELN have not been identified in most cases of autosomal
dominant SVAS. To define the spectrum of ELN mutations responsible for this
disorder, we refined the genomic structure of human ELN and used this
information in mutational analyses. ELN point mutations co-segregate with
the disease in four familial cases and are associated with SVAS in three
sporadic cases. Two of the mutations are nonsense, one is a single base
pair deletion and four are splice site mutations. In one sporadic case, the
mutation arose de novo. These data demonstrate that point mutations of ELN
cause autosomal dominant SVAS.
相似文献
52.
Hudson BI Wendt T Bucciarelli LG Rong LL Naka Y Yan SF Schmidt AM 《Antioxidants & redox signaling》2005,7(11-12):1588-1600
The major consequence of long-term diabetes is the increased incidence of disease of the vasculature. Of the underlying mechanisms leading to disease, the accumulation of advanced glycation end products (AGEs), resulting from the associated hyperglycemia, is the most convincing. Interaction of AGEs with their receptor, RAGE, activates numerous signaling pathways leading to activation of proinflammatory and procoagulatory genes. Studies in rodent models of macro- and microvascular disease have demonstrated that blockade of RAGE can prevent development of disease. These observations highlight RAGE as a therapeutic target for treatment of diabetic vascular disease. 相似文献
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55.
E. C. Ifeachor B. W. Jervis E. M. Allen E. L. Morris D. E. Wright N. R. Hudson 《Medical & biological engineering & computing》1988,26(6):591-598
An investigation of ocular artefacts (OAs) in the human electroencephalogram (EEG) to quantify the effectiveness of OA removal, and to find the most effective model for removing OAs online is described. It was found unnecessary to use the vertical and horizontal EOGs of both eyes, although more than one EOG signal is required for adequate OA removal. The model using the vertical right EOG and the two horizontal EOGs was the best overall, but in most cases the use of only the vertical and horizontal right EOGs was sufficient. OAs were not completely removed by any of the models investigated, suggesting that more complex models are necessary. 相似文献
56.
Shumikhina S Guay J Duret F Molotchnikoff S 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2004,158(2):223-232
Synchronization of neuronal activity has been proposed as a binding mechanism for integration of image properties into one coherent percept. In the present study, we investigated the contextual modulation of synchronization to random dot patterns. Coherent motion of random dots evoked well synchronized responses in area 17 of anaesthetized cats when the stimulus was presented in the compound receptive field of recorded sites. Gradually changing the directional coherence of random dots in the surround while maintaining fully coherent motion of the stimulus in the receptive field significantly suppressed synchronization of neuronal activity for some stimulus conditions. However, usually one or two peaks of increased synchronization were found in the surround coherence tuning curves with low (8–12%) and/or moderate (25–50%) coherence in the surround. At the population level, synchronization was significantly depressed with incoherent motion in the receptive field and when both the surround and the receptive field were jointly stimulated with 0% coherence. The intriguing finding was the discovery of two distinct groups of cells with opposite synchronization changes dependent on the presence or absence of significant synchronization in their spontaneous activity. The latter group of neurons showed peaks of increased synchronization with lower surround coherence, thus probably being more sensitive to the direction of the surround motion. Overall, our findings support the notion that binding of stimulus properties can be achieved by synchronized activity of cortical cells. However, our findings go further than the original hypothesis of feature binding by synchrony to show that synchronization of cortical activity may be directly related to the decision making processes, which in turn are related to the threshold of perception of coherent motion. 相似文献
57.
Anxiety during pregnancy and fetal attachment after in-vitro fertilization conception 总被引:3,自引:4,他引:3
McMahon CA; Ungerer JA; Beaurepaire J; Tennant C; Saunders D 《Human reproduction (Oxford, England)》1997,12(1):176-182
The aim of this study was to compare 70 couples who had conceived by in-
vitro fertilization (IVF) with 63 matched controls for the prevalence of
anxiety and quality of attachment to the baby during pregnancy. Results for
mothers showed no group differences using a global measure of anxiety, the
Spielberger State-Trait Anxiety Inventory. However, pregnancy-specific
measures revealed significantly higher levels of anxiety in IVF mothers
about the survival and normality of their unborn babies, about damage to
their babies during childbirth and about separating from their babies after
birth. When IVF mothers were differentiated according to the number of
treatment cycles, more differences in anxiety level were revealed, with
most increases occurring in mothers who had experienced two or more
treatment cycles. IVF fathers did not differ from controls on the global
anxiety measure. No data on pregnancy-specific anxiety were available for
fathers. Neither IVF mothers nor IVF fathers differed from controls on
measures of attachment to the baby during pregnancy. Results are discussed
in the context of the need for researchers to employ differentiated and
issue-specific measures to identify concerns that may be unique to IVF
couples. Clinical implications regarding the need for psychological support
during pregnancy are also discussed.
相似文献
58.
N P Moyer G M Evins N E Pigott J D Hudson C E Farshy J C Feeley W J Hausler Jr 《Journal of clinical microbiology》1987,25(10):1969-1972
The slide agglutination test (SAT), microagglutination test (MAT), and card agglutination test (CAT) were compared with each other, using the tube agglutination test (TAT) as the standard method, by two reference laboratories to determine effectiveness as screening tests for human brucellosis. TAT titers of 1,253 sera tested in both laboratories were compared. In one laboratory, 1,270 sera were tested by the TAT and SAT, while the other laboratory tested 1,261 sera by both methods. Of these sera, 1,155 were tested in one laboratory by the CAT and 187 sera were tested by the MAT. Compared with that of the TAT (greater than or equal to 160 positive), the sensitivities were 97 to 100% (SAT), 90% (CAT), and 88% (MAT). The specificities were 88 to 89% (SAT), 98% (CAT), and 88% (MAT). For populations with a low prevalence of disease, increased specificity offers higher predictive value, so the CAT and MAT are preferable for screening purposes and the choice between tests depends on the number and frequency of tests performed. All sera reactive in the CAT and MAT should be retested with the TAT. 相似文献
59.
The bursa dependence of chicken thymus-derived lymphocyte surface immunoglobulin. 总被引:4,自引:1,他引:4 下载免费PDF全文
Thirty-three plus or minus 5 per cent of chicken blood lymphocytes were positively labelled by radioiodinated rabbit anti-chicken light chain antibody within 7 days of exposure of autoradiographs. After thymectomy, 93 plus or minus 1 per cent of lymphocytes were positive: conversely, following bursectomy only 5 plus or minus 3 per cent of cells showed positive labelling and then at a very low level. Hence, under these conditions of short-term exposure autoradiography, only B cells carried readily demonstrable immunoglobulin. If the sensitivity of the technique was increased by long-term exposure of the autoradiographs, immunoglobulin was demonstrable on all blood lymphocytes, including the T cells. In addition, 39 plus or minus 6 per cent of thymocytes were shown to carry immunoglobulin by the more sensitive technique. In both cases, however, this T-lymphocyte surface immunoglobulin was reduced, and in some cases absent, after bursectomy. At no stage, with either technique, did the grain count on the erythrocytes reach the control level of lymphocytes treated with 125I-labelled anti-keyhole limpet haemocyanin antibody. It seems likely that T-cell immunoglobulin is not an endogenously synthesized product but is acquired indirectly from the B lymphocytes. 相似文献
60.
Tachimoto H Kikuchi M Hudson SA Bickel CA Hamilton RG Bochner BS 《American journal of respiratory cell and molecular biology》2002,26(6):645-649
Adhesion molecules and chemokines contribute to selective eosinophil recruitment in allergic inflammation. In this study, we examined the effects of eotaxin-2, a CCR3-specific chemokine, on integrin-mediated eosinophil adhesion to vascular cell adhesion molecule-1 (VCAM-1), intercellular adhesion molecule-1 (ICAM-1), or both using a parallel plate flow system. Tissue culture plates were coated with various combinations of VCAM-1, ICAM-1, and/or eotaxin-2. Human eosinophils were infused at physiologic shear stress (0.5 dyn/cm(2)) for 10 min, and the numbers of attached eosinophils were monitored using video microscopy. Cells accumulated efficiently on VCAM-1 and even better on surfaces co-coated with VCAM-1 and ICAM-1, but poorly on surfaces coated with ICAM-1 or bovine serum albumin alone. When eotaxin-2 was co-immobilized with adhesion proteins, fewer cells adhered to VCAM-1 and more adhered to ICAM-1, whereas levels of attachment to VCAM-1 plus ICAM-1 showed no net change. However, experiments with adhesion molecule blocking monoclonal antibody showed that the contribution of ICAM-1-mediated adhesion was always greater if eotaxin-2 was present. Pretreatment of cells with a CCR3-blocking mAb, or PD98059, a MAP-kinase inhibitor, prevented the eotaxin-2-induced changes in eosinophil attachment. These data suggest that eotaxin-2, acting via MAP kinases, may facilitate eosinophil recruitment at sites of allergic inflammation by shifting their adhesion molecule usage away from VCAM-1-dominated to ICAM-1-dominated pathways. 相似文献