Detection of an unstable non-coding tandem repeat in the ZNF291 gene

Vallo, Laura; Bonifazi, E.; Angelini, C.; Novelli, Giuseppe; Botta, Annalisa

doi:10.1016/j.mcp.2007.04.001

Cited by 5 publications

(4 citation statements)

References 22 publications

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“…Further, translocation of 15q24 had been found in a patient with visible disc drusen [49]. Sequence analysis [50] identified in SCAPER an unstable non-coding tandem repeat, an important form of mutation responsible for several neurological, neurodegenerative and neumuscular disorders [51]. The detected SNP rs3743175 has the strongest association with the expression of the gene itself ( p -value = 9.5×10 −14 ).…”

Section: Resultsmentioning

confidence: 99%

Epistatic Module Detection for Case-Control Studies: A Bayesian Model with a Gibbs Sampling Strategy

et al. 2009

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The detection of epistatic interactive effects of multiple genetic variants on the susceptibility of human complex diseases is a great challenge in genome-wide association studies (GWAS). Although methods have been proposed to identify such interactions, the lack of an explicit definition of epistatic effects, together with computational difficulties, makes the development of new methods indispensable. In this paper, we introduce epistatic modules to describe epistatic interactive effects of multiple loci on diseases. On the basis of this notion, we put forward a Bayesian marker partition model to explain observed case-control data, and we develop a Gibbs sampling strategy to facilitate the detection of epistatic modules. Comparisons of the proposed approach with three existing methods on seven simulated disease models demonstrate the superior performance of our approach. When applied to a genome-wide case-control data set for Age-related Macular Degeneration (AMD), the proposed approach successfully identifies two known susceptible loci and suggests that a combination of two other loci—one in the gene SGCD and the other in SCAPER—is associated with the disease. Further functional analysis supports the speculation that the interaction of these two genetic variants may be responsible for the susceptibility of AMD. When applied to a genome-wide case-control data set for Parkinson's disease, the proposed method identifies seven suspicious loci that may contribute independently to the disease.

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Section: Resultsmentioning

confidence: 99%

Epistatic Module Detection for Case-Control Studies: A Bayesian Model with a Gibbs Sampling Strategy

et al. 2009

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“…A perusal of literature revealed that benzimidazole and triazole ring containing heterocyclic molecules possess wide range of antibacterial activity and medicinal properties 1-10 . In addition, triazolo benzimidazoles possess broad range of antimicrobial spectrum and have privileged nuclei to display medicinal activity. Benzimidazole derivatives possess great importance in medicinal chemistry due to wide variety of pharmacological activity 11,12 in controlling cardiovascular diseases 13 , anticancer properties 14 , anti-inflammatory 15 , antibacterial 16 , antifungal 17 , antidiabetic 18 and anti HIV 19 activity and some benzimidazoles are antioxidant [20][21][22][23][24] .…”

Section: Introductionmentioning

confidence: 99%

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2014

IJPSR

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A series of new 1H-benzo[d]imidazole derivatives of 3,4-substituted triazole. 3-(1H-Benzo[d]imidazol-2-ylsulfanyl)methyl-4-[phenyloxy(phenylacetamido)]-5-mercapto-1,2,4-triazole and related aryloxy compounds were synthesised, analysed and characterised by FTIR, 1 HNMR and elemental analysis. These compounds were screened for antibacterial and antifungal activity. The antibacterial activities were compared against chlorophenicol and antifungal activity with mycostalin. Some triazole derivatives showed a little antibacterial but appreciable antifungal activity.

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“…The literature survey shows several examples of compounds having a benzimidazole ring which exhibit remarkable bioactivity that could make them potentially useful in the treatment of cancer, and cardiovascular diseases [3]. The benzimidazole unit and it's derivatives possess anticancer [4], antiinflammatory [5], antibacterial [6], antifungal [7], antidiabetic [8], and anti-HIV activities [9]. On the basis of this observation we have synthesized benzimidazole derivatives as hitherto unreported analogues.…”

Section: Introductionmentioning

confidence: 99%