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91.
Retroviruses, such as human and simian immunodeficiency viruses (HIV and SIV), and murine leukemia viruses (MuLV), harbor a tyrosine-based motif in the intracytoplasmic domain of their envelope glycoprotein. This motif can act as an endocytosis signal or as a targeting signal, restricting viral budding at specific cell surface membrane domains. In the present study, proviral DNA of the ecotropic Cas-Br-E strain of MuLV was modified by substitution or deletion of the critical tyrosine residue. Mutant viruses lost basolateral targeting in polarized MDCK epithelial cells while expression level of the glycoprotein at the cell surface was not affected. This suggests that the tyrosine-based motif in MuLV does not act as an endocytosis signal. Only a small delay in the appearance of disease was observed in inoculated mice. In contrast, a striking change in the pathology was observed with enlarged thymus and lymph nodes in animals inoculated with mutant viruses. 相似文献
92.
Tekin M Kavaz A Berberoğlu M Fitoz S Ekim M Ocal G Akar N 《American journal of medical genetics. Part A》2004,(3):284-287
We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. 相似文献
93.
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95.
Sun Hee Choi Do Kyun Kim Young Yoo Jinho Yu Young Yull Koh 《Annals of allergy, asthma & immunology》2007,98(2):128-133
BACKGROUND: In asthmatic individuals, airway sensitivity and maximal airway response are increased. Airway sensitivity is usually evaluated by measuring the provocation concentration of inhaled methacholine or histamine that causes a decrease in forced expiratory volume in 1 second of 20% (PC20). The percentage decrease in forced vital capacity at the PC20 (deltaFVC) has been proposed as a surrogate marker for maximal airway response. Individuals with allergic rhinitis and no clinical evidence of asthma frequently exhibit airway hypersensitivity. OBJECTIVE: To compare the deltaFVC between patients with allergic rhinitis and mild asthmatic patients with a similar degree of airway hypersensitivity. METHODS: A retrospective analysis of methacholine challenge test data from 72 children with allergic rhinitis and airway hypersensitivity (methacholine PC20 < 16 mg/mL) (rhinitis group) and from 72 children with mild atopic asthma matched to the rhinitis group regarding the methacholine PC20 (asthma group). The deltaFVC was calculated on the concentration-response curve to methacholine. RESULTS: The mean +/- SD deltaFVC was significantly lower in the rhinitis group (15.0% +/- 3.6%) vs the asthma group (17.4% +/- 5.3%) (P = .002). There was no significant correlation between the deltaFVC and PC20 in the rhinitis (r = -0.101; P = .41) and asthma (r = -0.023; P = .85) groups when 2 patients with PC20 less than 1 mg/mL were excluded from each group. CONCLUSIONS: Patients with allergic rhinitis and airway hypersensitivity had a significantly lower deltaFVC than methacholine PC20-matched mild asthmatic patients, suggesting that the level of maximal airway response in patients with allergic rhinitis is lower than that in mild asthmatic patients with a similar degree of airway hypersensitivity. 相似文献
96.
Kreimir Paveli Reno Hraan Sanja Kapitanovia Nikola Karapanda Zoran Vrane Mladen Belicza Boo Krulin Tomislav abrijan 《The Journal of pathology》1995,177(4):395-400
Proto-oncogenes, growth factors/receptors, and tumour suppressor genes were analysed in malignant metastatic insulinomas. Normal pancreas showed only a moderate immunoreaction for c-myc proto-oncogene and a strong reaction for insulin. Benign insulinomas were slightly or moderately positive for transforming growth factor a (TGFα), weakly positive for epidermal growth factor receptor (EGF-R), and strongly positive for c-myc and insulin. In malignant insulinomas, besides a strong immunoreaction for c-myc and TGFα, activation of c-K-ras and overexpression of p53 protein were found. Insulin reaction was moderate or strong. Three out of six malignant insulinomas displayed a c-K-ras point mutation at codon 12. All mutations were guanine to cytosine transversion, resulting in amino acid substitution, glycine to arginine. Mutations were present in metastatic insulinomas only. Patients with mutated c-K-ras oncogene had overexpression of p53 protein as well as c-myc and TGFα overexpression. Our results support the view that malignant progression is a consequence of more than one genetic lesion and suggest that activation of myc, TGFα, and ras genesα plays a role in a multistep process of tumour progression, perhaps serving as an initiating event. 相似文献
97.
Autoimmune haemolytic anaemias. V. Studies on the resistance against complement haemolysis of the red cells of patients with chronic cold agglutinin disease 总被引:2,自引:1,他引:2
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C. P. Engelfriet A. E. G. Kr. Von Dem Borne Do Beckers E. Reynierse J. J. Van Loghem 《Clinical and experimental immunology》1972,11(2):255-264
Experiments are described the results of which sustain the hypothesis that resistance against complement haemolysis, which is a characteristic of the red cells of patients with chronic cold agglutinin disease, is due to the following mechanism: when red cells react with cold auto-agglutinins in vivo, they are either haemolysed immediately, or, due to an unknown factor, escape direct haemolysis. In the latter case β1E and β1A disappear from the cell membrane. To the sites where these proteins have been attached once, no new β1E or β1A molecules can be bound. Full complement activation thus becomes impossible. 相似文献
98.
The purpose of this study was to investigate the epidemiologic characteristics of the death by poisoning in Korea. We recoded the Death Certificates Database by injury based on the short version of the International Classification of External Causes of Injuries (ICECI). We evaluated the mortality rate by total injury and poisoning, and analyzed the mortality rate by age, gender, year and month, toxic agent, and intent. Adjusted odds ratios were calculated to evaluate the effects of socioeconomic factors on suicidal poisoning death. The total number of death cases by injury was 346,656. The proportion of death cases by injury decreased from 13.53% of all death cases in 1991 to 11.89% in 2001. However, the mortality rate by poisoning increased rapidly from 1998, and then remained stable. The number of suicidal poisoning deaths has gradually increased, and its mortality rate was 6.41 (per 100,000) in 2001. Major toxic agents were pesticides and herbicides (50.90%) in 2001. Adjusted odds ratios of suicidal poisoning versus other poisonings showed significant differences in education attainment, region, and marital status. In conclusion, the mortality rate by poisoning has increased, and the proportion of suicidal poisoning also has increased compared to that of accidental poisoning. 相似文献
99.
Interleukin-1 beta gene polymorphism related with allergic pathogenesis in Iris constitution 总被引:1,自引:0,他引:1
Um JY Do KR Hwang WJ Shin TY Hwang CY Kim CH Kim YK Hong SH Kim HM 《Immunopharmacology and immunotoxicology》2004,26(4):653-661
Iridological constitution has a strong familial aggregation and is implicated in heredity. The aetiology of inflammatory bowel disease is still unknown. However, from genetic epidemiological studies there is considerable evidence that genetic factors are associated with both Crohn's disease and ulcerative colitis. We investigated the relationships between Iridological constitution and interleukin 1 beta (IL-1β) gene polymorphism. IL-1β is a major proinflammatiry cytokine, and the polymorphisms of this gene have been shown to be of importance in a number of diseases. Especially, IL-1 has been suspected of involvement in allergic pathogenesis. Also, IL-1β genotype is one of the genetic markers of gastric cancer. Therefore, we classified 166 individuals according to Iris constitution, and determined IL-1β genotype. The frequencies of Iris constitutions as follows: neurogenic type, 41 (24.7%); abdominal connective tissue weakness type, 53 (31.9%); cardio-renal connective tissue weakness type, 50 (30.1%); the others type, 22 (13.3%). Especially, the frequency of abdominal connective tissue weakness type was higher in C/T genotype than in the remaining constitutions although the statistical power was very weak. Furthermore, we first attempted to explore possible involvement of the IL-1β polymorphism and the Iris constitution. 相似文献
100.
Ana Velasco Victor Palomar-Asenjo Laura Ga?an Lluis Catasus Nuria Llecha Angel Panizo Victor Palomar-Garcia Miquel Quer Xavier Matias-Guiu 《Diagnostic molecular pathology》2005,14(2):109-114
The familial paraganglioma syndrome is an autosomal dominant disorder characterized by the presence of carotid body paragangliomas and, less frequently, paragangliomas of the glomus jugulare, glomus vagale, and adrenal pheochromocytomas. Germline mutations of the genes for succinate dehydrogenase subunits D, B, or C (SDHD, SDHB, SDHC) have been identified in some kindreds with familial paraganglioma. In this study, we report the clinicopathologic features of four different kindreds with familial paraganglioma, which were screened for germline mutations in the SDHD gene. DNA was obtained from tumor and normal tissue, as well as from peripheral blood. Mutation analysis was performed by single-strand conformation polymorphism analysis and DNA sequencing. SDHD germline mutations were detected in the affected family members of the four families, as well as in several asymptomatic carriers. An identical mutation in exon 4 of SDHD (334-337delACTG) was identified in two apparently unrelated kindreds. The third family showed a germline mutation in exon 2 (W43X). The mutations present in these three families had been previously described in Spanish families, suggesting a founder effect. The fourth family exhibited a mutation in exon 2 of SDHD (170-171delTT), which had not been previously identified. The affected family members of the four kindreds showed paragangliomas, located in the head and neck region, and all of them were benign. These results confirm that genetic testing of SDHD may be a powerful tool for the identification of the syndrome in patients with multiple or bilateral paragangliomas. 相似文献