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1.
001-es BibID:
BIBFORM010492
Első szerző:
Losonczy Gergely (szemész)
Cím:
Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age-related macular degeneration in Hungarian patients / Gergely Losonczy, Ágnes Fekete, Zoltan Voko , Lili Takacs, Ildiko Kaldi, Eva Ajzner, Marta Kasza, Attila Vajas, Andras Berta, Istvan Balogh
Dátum:
2011
ISSN:
0001-639X (Print)
Megjegyzések:
Recent studies strongly support the role of genetic factors in the aetiology of age-related macular degeneration (AMD). We investigated the frequency of Tyr402His polymorphism of the complement factor H (CFH) gene, Ser69Ala polymorphism at LOC387715, rs11200638 polymorphism of the HTRA1 gene and different apolipoprotein E (ApoE) alleles in Hungarian patients with AMD in order to determine the disease risk conferred by these factors. Methods: In a case-control study, we performed clinical and molecular genetic examination of 105 AMD patients (48 patients in the early and 57 in the late subgroup) and 95 unrelated healthy controls. Detailed patient histories were recorded with the use of a questionnaire focusing on known risk factors for AMD. Results: In the early AMD subgroup, homozygous CFH, LOC387715 or HTRA1 polymorphisms conferred a 4.9-fold (95% confidence interval [CI] 1.7-14.2), 7.4-fold (95% CI 2.1-26.2) or 10.1-fold (95% CI 2.5-40.8) risk of disease, respectively. In the late AMD subgroup, carriers of two CFH, LOC387715 or HTRA1 risk alleles were at 10.7-fold (95% CI 3.7-31.0), 11.3-fold (95% CI 3.2-40.4) or 13.5-fold (95% CI 3.3-55.4) greater disease risk, respectively. Two CFH and one LOC387715 risk alleles in combination conferred a 15.0-fold (95% CI 3.2-71.0) increase in risk, whereas two LOC387715 risk alleles combined with one CFH risk allele was associated with a 14.0-fold (95% CI 2.1-95.1) increased risk for late AMD. ApoE alleles neither increased disease risk nor proved to be protective. Conclusions: The CFH, LOC387715 and HTRA1 polymorphisms are strongly associated with the development of AMD in the Hungarian population. The association is particularly pronounced when homozygous risk alleles are present and in the late stages of the disease.
Tárgyszavak:
Orvostudományok
Elméleti orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:
Acta Ophthalmologica. - 89 : 3 (2011), p. 255-262. -
További szerzők:
Fekete Ágnes
Vokó Zoltán (1968-) (epidemiológus)
Takács Lili (1969-) (szemész)
Káldi Ildikó (szemész)
Ajzner Éva (1968-) (laboratóriumi szakorvos)
Kasza Márta
Vajas Attila (1973-) (szemész)
Berta András (1955-) (szemész, gyermekszemész)
Balogh István (1972-) (molekuláris biológus, genetikus)
Internet cím:
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
2.
001-es BibID:
BIBFORM028036
Első szerző:
Petrovski, Goran (orvos)
Cím:
Clearance of dying ARPE-19 cells by professional and nonprofessional phagocytes in vitro- implications for age-related macular degeneration (AMD) / Petrovski Goran, Berényi Erika, Moe Morten C., Vajas Attila, Fésüs László, Berta András, Facskó Andrea
Dátum:
2011
ISSN:
1755-375X
Megjegyzések:
Failure of retinal pigment epithelial (RPE) cells and macrophages to engulf different dying cells in the retina may result in accumulation of debris and development of age-related macular degeneration (AMD). The dynamics and influence of different treatments on this clearance process can be studied in vitro using human ARPE-19 cells and macrophages as phagocytes modelling dry and wet type of AMD, respectively. METHODS: Death through extracellular matrix detachment using polyHEMA-coated surfaces (anoikis) and UV irradiation (apoptosis) was induced in ARPE-19 cells. Two-coloured phagocytic assays were performed to quantify the amount of dying cells phagocytes engulfed (flow cytometry) and for visualization (fluorescent and scanning electron microscopy). The effect of phosphatidylserine inhibition with recombinant annexin-V and glucocorticoid (triamcinolone) treatment on the phagocytic process was tested. RESULTS: The clearance of anoikic and apoptotic cells by nondying ARPE-19 cells over 8 hr of co-incubation increased over time (at 8 hr, over 53% and 35% of the phagocytes contained engulfed dying cells, respectively). The human macrophages engulfed the anoikic and apoptotic ARPE-19 cells with seven and four times lower capacity, respectively. Phosphatidylserine appearance on the dying cells did not affect, but triamcinolone treatment enhanced the phagocytosis of the dying cells by macrophages. CONCLUSIONS: ARPE-19 cells are more efficient in clearing anoikic than UV-induced apoptotic cells. Macrophages are less efficient in the clearance process than ARPE-19 cells. The present model can be used for studying both dry and wet type of AMD in vitro and for testing different pharmacological aspects affecting this disease.
Tárgyszavak:
Orvostudományok
Elméleti orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:
Acta Ophthalmologica. - 89 : 1 (2011), p. 30-34. -
További szerzők:
Berényi Erika
Moe, Morten C.
Vajas Attila (1973-) (szemész)
Fésüs László (1947-) (orvos biokémikus)
Berta András (1955-) (szemész, gyermekszemész)
Facskó Andrea (1953-) (szemész)
Internet cím:
Intézményi repozitóriumban (DEA) tárolt változat
DOI
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