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排序方式: 共有509条查询结果,搜索用时 15 毫秒
1.
Mapping the Von Hippel -- Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis 总被引:3,自引:0,他引:3
Richards Frances M.; Phipps Maude E.; Latlf Farida; Yao Masahlro; Crossey Paul A.; Foster Kelth; Llnehan W. Marston; Affara Nabeel A.; Lerman Michael I.; Zbar Berton; Ferguson-Smith Malcolm A.; Maher Eamonn R. 《Human molecular genetics》1993,2(7):879-882
Von HlppelLindau (VHL) disease is a dominantly Inheritedfamillal cancer syndrome In which affected individuals havea greatly increased predisposition to the development of haemangloblastomasof the central nervous system and retina, renal cell carcinomaand phaeochromocytoma. The VHL gene has been mapped to chromosome3p25 -p26 by genetic linkage studies and we have previouslydemonstrated that the VHL gene is tightly linked to the D3S601locus (Zmax = 18.86 at 相似文献
2.
A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity 总被引:8,自引:0,他引:8
Acsadi Gyula; Jani Agnes; Massie Bernard; Simoneau Maude; Holland Paul; Blaschuk Katharine; Karpati George 《Human molecular genetics》1994,3(4):579-584
High titre (10111012 pfu/ml) suspensions of autonomouslyreplication-defective type 5 human adenovirus (AV) recombinantswith different reporter gene inserts (CMV-Luciferase (Lux),CMV-ß-galactosidase (Lac Z), RSV-Lux and RSV-Lac Z)were injected Into intact quadrlceps muscles of 15 dayold (Group 1) or 3545 day old (Group 2) normal mice,as well as regenerating adult mouse muscles (Group 3) and 35day old mdx muscles (Group 4). The expression of the reportergenes was quantitated 10 days and 2 months later. At 10 dayspostinjection all reporter gene expression was very high inthe neonatally injected (Group 1) muscles. In Group 2 musclesthe transduction was markedly less. In Group 3 muscles the geneexpression was significantly better than in the Group 2 muscles.In adult mdx muscles (Group 4) where spontaneous regenerationis usually present, the results were similar to those in Group3 animals. At 2 months post-injection in Group 1 animals, theRSV-Lux expression was even higher than at 10 days postinjection.The cell surface density of 相似文献
3.
Detection of human metapneumovirus RNA sequences in nasopharyngeal aspirates of young French children with acute bronchiolitis by real-time reverse transcriptase PCR and phylogenetic analysis 总被引:3,自引:0,他引:3 下载免费PDF全文
Bouscambert-Duchamp M Lina B Trompette A Moret H Motte J Andréoletti L 《Journal of clinical microbiology》2005,43(3):1411-1414
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Incidence of hypertension and non-insulin dependent diabetes mellitus and associated risk factors in a rapidly developing Caribbean community: the St James survey, Trinidad. 总被引:1,自引:0,他引:1 下载免费PDF全文
OBJECTIVE: To compare the incidence rates of hypertension and non-insulin dependent diabetes mellitus in relation to ethnicity and other characteristics in a rapidly developing community. DESIGN: Prospective surveillance of a total community for five years. SUBJECTS: Cohort of 2491 men and women aged 35 to 69 years (79% response), of African, Indian and "other' (mainly Afro-European) descent. RESULTS: During surveillance, secular increases occurred in fasting blood glucose concentrations in both sexes and in body mass index (BMI) in men, with apparent secular reductions in systolic blood pressure in both sexes. Incidence rates of hypertension did not differ significantly with ethnicity, ranging between 33 and 41 per 1000 person-years in men and between 27 and 32 per 1000 person-years in women. In men, the incidence of diabetes (per 1000 person-years) in Indians (24) was significantly higher than in Africans (13) and others (11). In women, the diabetic incidence was similar to that for men in Indians (23) and Africans (14), but in others was twice that in men (21). In both sexes, weight gain was an important risk factor for hypertension, whereas risk of diabetes increased with BMI at baseline. The increased risk of diabetes in Indians among men was independent of baseline BMI and blood glucose. CONCLUSION: Apart from the increased risk of diabetes in Indians, ethnicity had no significant influence on incidence rates of hypertension and diabetes in Trinidad. Secular increases in blood glucose in both sexes and in BMI in men probably contributed to the concurrent increase in mortality from coronary heart disease in this community. 相似文献
6.
Clinical presentation of sickle cell-hemoglobin C disease 总被引:2,自引:0,他引:2
Early symptoms were observed in a representative sample of 166 children with sickle cell-hemoglobin C disease diagnosed at birth. Symptoms were uncommon in the first year of life; in approximately 50% specific symptoms had developed by 5 years, but 22% remained without specific symptoms to 10 years. The age at presentation was significantly earlier in patients with low hemoglobin F levels, but was not influenced by heterozygous alpha-thalassemia-2. Painful crisis was the initial manifestation in 77% of the children; other symptoms included dactylitis (14%) and pneumococcal septicemia and acute splenic sequestration (4% each). The commonest nonspecific symptom was acute chest syndrome. The relatively mild early clinical course of sickle cell-hemoglobin C disease indicates that neonatal diagnosis does not have the same urgency as for homozygous sickle cell disease. 相似文献
7.
Retinitis pigmentosa, of unknown cause, has recently been associated with decreased amounts of the polyunsaturated fatty acid, docosahexaenoic acid, in the plasma of affected as compared with unaffected relatives. It has been suggested that this finding may serve as a marker for the disease and might indicate alterations in photoreceptor cell metabolism. The authors studied 54 members of a family with dominantly inherited retinitis pigmentosa in five generations. In addition to the typical clinical findings of retinitis pigmentosa, eight persons also had a bull's eye maculopathy, and four persons had uni- or bilateral optic nerve drusen. When the authors determined the plasma fatty acid and lipid contents, they saw the expected age-related effect on cholesterol and triglycerides, but an unexpected, significant reduction in fatty acids in the unaffected controls as compared with persons with retinitis pigmentosa. The authors' results emphasize the heterogeneity of phenotypic expression of retinitis pigmentosa within a single family. 相似文献
8.
Yanis Merad Alexandre Gaymard Laurent Cotte Thomas Perpoint Dulce Alfaiate Matthieu Godinot Agathe Becker Olivier Cannesson Anne-Sophie Batalla Fatima Oria-Yassir Sophie Landr Florence Morfin Maude Bouscambert Florent Valour Florence Ader Anne Conrad 《Euro surveillance : bulletin européen sur les maladies transmissibles = European communicable disease bulletin》2022,27(50)
Modified vaccinia virus Ankara vaccine (MVA-BN; Bavarian Nordic) is recommended to contacts of mpox cases up to 14 days post-exposure but the effectiveness of this strategy is unknown. Among 108 adults (≥ 18 years old) who received one dose of MVA-BN after exposure to mpox, 11 (10%) cases of breakthrough mpox were observed. Sexual exposure was associated with the risk of breakthrough mpox (p = 0.0179). Samples taken from vaccinated breakthrough mpox cases had similar rates of infectious virus isolation than unvaccinated mpox cases. 相似文献
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Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development 总被引:7,自引:0,他引:7 下载免费PDF全文