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A Customized Pigmentation SNP Array Identifies a Novel SNP Associated with Melanoma Predisposition in the SLC45A2 Gene
(Public Library of Science, 2011-04-29)
As the incidence of Malignant Melanoma (MM) reflects an interaction between skin colour and UV exposure, variations in genes implicated in pigmentation and tanning response to UV may be associated with susceptibility to ...
Involvement of ANXA5 and ILKAP in Susceptibility to Malignant Melanoma
(Public Library Science, 2014-04-17)
Single nucleotide-polymorphisms (SNPs) are a source of diversity among human population, which may be responsible for the different individual susceptibility to diseases and/or response to drugs, among other phenotypic ...
The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population
(Public Library Science, 2014-08-05)
We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population ...
BRAF V600E mutational load as a prognosis biomarker in malignant melanoma
(Public Library Science, 2020-03-13)
Analyzing the mutational load of driver mutations in melanoma could provide valuable information regarding its progression. We aimed at analyzing the heterogeneity of mutational load of BRAF V600E in biopsies of melanoma ...
RKIP Regulates Differentiation-Related Features in Melanocytic Cells
(MDPI, 2020-06-03)
Raf Kinase Inhibitor Protein (RKIP) has been extensively reported as an inhibitor of keysignaling pathways involved in the aggressive tumor phenotype and shows decreased expressionin several types of cancers. However, ...
Comparison of the Transcriptional Profiles of Melanocytes from Dark and Light Skinned Individuals under Basal Conditions and Following Ultraviolet-B Irradiation
(Public Library Science, 2015-08-05)
We analysed the whole-genome transcriptional profile of 6 cell lines of dark melanocytes (DM) and 6 of light melanocytes (LM) at basal conditions and after ultraviolet-B (UVB) radiation at different time points to investigate ...
Sex-Specific Genetic Effects Associated with Pigmentation, Sensitivity to Sunlight, And Melanoma in a Population of Spanish Origin
(Biomed Central, 2016-03-18)
Background: Human pigmentation is a polygenic quantitative trait with high heritability. In addition to genetic factors, it has been shown that pigmentation can be modulated by oestrogens and androgens via up-or down-regulation ...