نتایج جستجو برای: 32 mutation
تعداد نتایج: 434226 فیلتر نتایج به سال:
The CCR5-∆32 HIV-1 resistance allele was initially thought to have originated in Europe around 700 years ago. Its present-day frequency was formerly explained as resulting from selective pressure imposed by the Black Death epidemics. Our findings are among the results which confirm the presence of CCR5-∆32 in populations older than late medieval (from Dziekanowice, Central Poland), which predat...
Chemokine and chemokine receptors show several variations which may affect resistance to infectious disease. A 32 base pair deletion in the open reading frame of the human CCR5 gene (CCR5?32) results in producing a truncated antigen which fails to be presented on the surface of target cells. CCR5?32 variant is not a functional co receptor for HIV-1 entrance and delay the onset of acquired immun...
Background The human immunodeficiency virus type 1 (HIV-1) infection occurs by binding to CD4+ receptor and chemokine receptor 5 (CCR5) or the CXC chemokine receptor (CXCR4). A mutation in the CCR5 gene, 32 base pair deletion consequences a truncated protein that is not expressed on the cell surface. The deletion confers resistance to HIV-1 infection and slows the progression of AIDS in HIV inf...
BACKGROUND Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: five HPT-JT, three FIHP, three MEN 1, one MEN 2A, 25 sporadic adenomas, 17 hyperplastic glands, tw...
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