BACKGROUND Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of assay data in turn relies on appropriate assay design, interpretation, and reporting. METHODS W...

The MMPs (matrix metalloproteinases) are a family of secreted zinc metalloproteases that degrade the collagens of the extracellular matrix important in tissue remodeling and repair during development and inflammation. We investigated the associations between polymorphisms of MMP-1 (-1607 1G/2G, rs1799750), MMP-3 (-1171 5A/6A, rs3025058), and MMP-12 (-82AG, rs2276109, and 1082A/G, rs652438) and ...

Abstract/ Resumo Behcet's disease (BD) is a multisystem inflammatory disorder characterized by recurrent oral and genital ulcers, skin lesions and uveitis. The nervous system involvement of BD, neuro-Behcet's disease (NBD), is one of the important causes of mortality of the disease. Herein, we present a 29-year-old male with parenchymal NBD who has progressed rapidly and was managed with an unc...

Guava (Psidium guajava L.), is adapted to an extensive range of soils, however, its development is strongly affected by salinity. Environmental stresses are of the major and influential factors in the amount of secondary metabolites, especially phenolic compounds present in plants. The purpose of this investigation was to study the leaf antioxidant and flavonoid contents (catechin, quercetin an...

introduction: insertion or deletion of a guanine in -1607 at promoter region of matrix metalloproteinase-1 enzyme creates two allelic types for this gene in the population: 2g and 1g, respectively. 2g allele contains an extra binding site for ets transcription factors that this may increase the level of gene expression. therefore, aim of this study was investigation of the single guanine insert...

Melissa officinalis L. is a well-known medicinal plant from the family of lamiaceae. The plant is high in flavonoid. Flavonoids of lemon balm such as rosmarinic acid and anthocyanin have an antiviral and antioxidant effect. Micronutrients are the element that is necessary for the plant in low concentration. In this experiment the effect of micronutrient (Fe and Zn) was examined on the ...

BACKGROUND Germline mutations of the CHEK2 gene have been reported to be associated with breast cancer. In this study, we analyzed the association of CHEK2 mutations with the risk of development of breast cancer in women of North-Central Poland. METHODS 420 women with breast cancer and 435 controls were tested for three protein truncating (IVS2 + 1G > A, 1100delC, del5395) and one missense (I...