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21.
S. Liechti-Gallati M. Koenig L. M. Kunkel D. Frey E. Boltshauser V. Schneider S. Braga H. Moser 《Human genetics》1989,82(4):343-348
Summary DNA from 80 Duchenne (DMD) and 15 Becker (BMD) index patients was analyzed with 12 genomic probes and the total cDNA. Deletions
were detected in 24 DMD (30%) and 10 BMD patients (67%) by genomic probes alone, mostly p20, pXJ, and/or pERT87. All deletions
were confirmed by cDNA probes, and an additional 29 DMD deletions were detected, resulting in a total of 63/95 deletions (66%).
The majority of the deletions are localized between kb 6.7 and 9.7 of the cDNA; a smaller group, between kb 0.5 and 3.5. Of
the deletions, 90% are detected by the three cDNA probes 1–2a, 7, and 8. This can be applied to strategies for carrier detection
and prenatal diagnosis. The order of 13 exon-containing HindIII fragments in the region between probes 7 and 9–10, where most of the deletions are found, could be defined. The deletion
patterns in DMD and BMD patients are different and well in accordance with the “reading frame theory” of Monaco and coworkers.
Thus our findings indicate that a DMD or BMD phenotype may be predicted according to the breakpoint position and the number
of deleted exons. 相似文献
22.
Actions of Excitatory Amino Acids on Somatostatin Release from Cortical Neurons in Primary Cultures 总被引:1,自引:1,他引:0
L-Glutamate, N-methyl-D-aspartic acid (NMDA), quisqualate, and kainate were found to increase endogenous somatostatin release from primary cultures of rat cortical neurons in a dose-dependent manner. The rank order of potency calculated from the dose-response curves was quisqualate greater than glutamate = NMDA greater than kainate, with EC50 values of 0.4, 20, and 40 microM, respectively. Alanine, glutamine, and glycine did not modify the release of somatostatin. The stimulation of somatostatin release elicited by L-glutamate was Ca2+ dependent, was decreased by Mg2+, and was blocked by DL-amino-5-phosphonovaleric acid (APV) and thienylphencyclidine (TCP), two specific antagonists of NMDA receptors. The NMDA stimulatory effect was strongly inhibited by APV in a competitive manner (IC50 = 50 microM) and by TCP in a noncompetitive manner (IC50 = 90 nM). The release of somatostatin induced by the excitatory amino acid agonists was not blocked by tetrodotoxin (1 microM), a result suggesting that tetrodotoxin-sensitive, sodium-dependent action potentials are not involved in the effect. Somatostatin release in response to NMDA was potentiated by glycine, but the inhibitory strychnine-sensitive glycine receptor did not appear to be involved. Our data suggest that glutamate exerts its stimulatory action on somatostatin release essentially through an NMDA receptor subtype. 相似文献
23.
Lucia Rosaria De Vitis Andrea Tedde Francesca Vitelli Franco Ammannati Pasquale Mennonna Umberto Bigozzi Enrico Montali Laura Papi 《Human genetics》1996,97(5):632-637
Meningiomas are benign tumors of the central nervous system. They are usually sporadic but can also occur associated with the neurofibromatosis type 2 (NF2) syndrome. The gene responsible for NF2, recently isolated from chromosome 22, encodes a membrane-organizing protein that shows high sequence homology to a protein family thought to link the cytoskeleton with membrane proteins. Mutations of the NF2 gene have been described in sporadic meningiomas, exclusively in tumors that show loss of heterozygosity (LOH) of 22q. These preliminary results indicate that the NF2 gene is involved in the pathogenesis of at least a subset of meningiomas, where it does indeed behave as a tumor suppressor gene. In order to characterize better the role of the NF2 gene in the genesis of meningiomas we have examined the entire coding sequence of the gene in 125 meningiomas by single-strand conformational polymorphism analysis; furthermore, LOH analysis for markers of 22q has been carried out. Inactivating mutations were identified in 30% of our samples, all of which also showed LOH of 22q. The majority of mutations identified were frameshifts and nonsense mutations, which are predicted to produce a truncated or non-functional protein. We also found two missense and three in-frame deletions that may pinpoint specific regions of the protein critical to its function. Furthermore, the distribution of mutations throughout the gene, suggested that exons 2, 3, 5, 11 and 13 are more frequently involved. Our results reconfirm the importance of the NF2 gene in the pathogenesis of meningiomas and also suggest that there may be a nonrandom clustering of mutations throughout the gene. 相似文献
24.
Heterotrimeric guanine nucleotide-binding regulatory proteins (G proteins) serve to transduce information from agonist-bound receptors to effector enzymes or ion channels. Current models of G protein activation-deactivation indicate that the oligomeric GDP-bound form must undergo release of GDP, bind GTP and undergo subunit dissociation, in order to be in active form (GTP bound subunits and free dimers) and to regulate effectors. The effect of receptor occupation by an agonist is generally accepted to be promotion of guanine nucleotide exchange thus allowing activation of the G protein. Recent studies indicate that transphosphorylation leading to the formation of GTP from GDP and ATP in the close vicinity, or even at the G protein, catalysed by membrane-associated nucleoside diphosphate kinase, may further activate G proteins. This activation is demonstrated by a decreased affinity of G protein-coupled receptors for agonists and an increased response of G protein coupled effectors. In addition, a phosphorylation of G protein subunits and consequent phosphate transfer reaction resulting in G protein activation has also been demonstrated. Finally, endogenously formed GTP was preferentially effective in activating some G proteins compared to exogenous GTR The aim of this report is to present an overview of the evidence to date for a transphosphorylation as a means of G protein activation (see also refs [1 and 2] for reviews). (Mol Cell Biochem 157: 593, 1996)Recipient of Servier Investigator Award 相似文献
25.
Prof. Renato Meduri Emilio Campos Lucia Scorolli Caterina De Vinci Giancarlo Pizza Dimitri Viza 《Biotherapy》1996,9(1-3):61-66
Recurrent ocular herpes is an insoluble problem for the clinician. As cellular immunity plays an important role in controlling
herpes relapses, and other studies have shown the efficacy of HSV-specific transfer factor (TF) for the treatment of herpes
patients, an open clinical trial was undertaken in 134 patients (71 keratitis, 29 kerato-uveitis, 34 uveitis) suffering from
recurrent ocular herpetic infections. The mean duration of the treatment was 358 days, and the entire follow-up period 189121
before, and 64062 days after TF treatment. The cell-mediated immune response to the viral antigens, evaluated by the lymphocyte
stimulation test (LST) and the leucocyte migration test (LMT) (P<0.001), was significantly increased by the TF treatment.
The total number of relapses was decreased significantly during/after TF treatment, dropping from 832 before, to 89 after
treatment, whereas the cumulative relapse index (RI) dropped, during the same period, from 13.2 to 4.17 (P<0.0001). No side
effects were observed. It is concluded that patients with relapsing ocular herpes can benefit from treatment with HSV-specific
TF. 相似文献
26.
27.
Very few studies have evaluated the effects of UV-B radiation on trees. especially deciduous species. In this study we evaluate the effects of supplemental UV-B radiation on the growth and photosynthetic capacity of sweetgum (Liquidambar styraciflua L.). Sweetgum seedlings were grown for 2 years in the field under either ambient or supplemental UV-B radiation. Artificial UV-B radiation was supplied by fluorescent lamps at a maximum daily supplementation of either 3.1 or 5.0 kJ of biologically effective UV-B radiation. Over the 2-year period, supplemental UV-B radiation had little effect on total plant biomass or photosynthetic capacity. However, subtle changes in leaf physiology, carbon allocation, and growth were observed. Supplemental UV-B radiation reduced photosynthetic capacity only during the first year, while leaf area and biomass were reduced in the second year. Alterations in carbon allocation included an increase in branch number and root to shoot ratio. While these data do not indicate that the productivity of sweetgum would likely be compromised by an increase in solar UV-B radiation, they do suggest that the UV-B portion of the solar spectrum contributes to the regulation of sweetgum growth and development. Therefore the possibility of significant consequences to sweetgum due to possible increases in UV-B radiation cannot be ruled out. 相似文献
28.
Lucia Potenza Antonella Amicucci Ismaela Rossi Francesco Palma Roberta De Bellis Paola Cardoni Vilberto Stocchi 《Biotechnology Techniques》1994,8(2):93-98
Summary Different species of truffle were studied in order to identify species-specific markers. The isolation of two Tuber magnatum Pico markers is reported. One of these could be used as a probe in dot blot hybridization, allowing the development of a rapid test able to identify Tuber magnatum species. 相似文献
29.
P. Cugini G. Leone P. Lucia F. A. Sepe A. Pelosio T. Caparrelli R. Verardi A. Zannella P. Zannella G. Pannozzo F. Di Fonzo F. P. Zannella 《Chronobiology international》1994,11(6):381-392
Noninvasive ambulatory blood pressure (BP) monitoring is a developing method in clinical practice. Its interpretation needs reference standards stratified by age and gender. This study addresses ambulatory BP monitoring in elderly people with the purpose of quantifying the discrete and periodic variability of BP pattern over a 24-h period. The ABPM was performed in 92 clinically healthy subjects (45 men and 47 women) ranging in age from 76 to 102 years. The results refer to the time-qualified mean values with their dispersion, to the circadian rhythm with its parameters, and to the daily baric impact (BI) with its variability. The conclusion is drawn that BP preserves its nychtohemeral variability and circadian rhythmicity despite old age. The daily BP mean level and BI in older people in good health are comparable with those of young subjects, suggesting that humans surviving into old age are characterized by a eugenic control of their pressure regimen. 相似文献
30.