|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified a likely pathogenic SLC45A2 frameshift variant that fully segregated with CM in a family of four cases.
|
31233279 |
2019 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together, our study demonstrates the feasibility of using tandem MS as a means of discovering shared immunogenic tumor-associated epitopes and identifies SLC45A2 as a promising immunotherapeutic target for melanoma with high tumor selectivity and reduced potential for autoimmune toxicity.<i></i>.
|
28630054 |
2017 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.
|
28212542 |
2017 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The SLC45A2 gene is highly enriched in human melanocytes and melanoma cell lines, and its protein, MATP, is located in melanosomes.
|
26057890 |
2015 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population.
|
25093503 |
2014 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Few high penetrance genes are known in Malignant Melanoma (MM), however, the involvement of low-penetrance genes such as MC1R, OCA2, ASIP, SLC45A2 and TYR has been observed.
|
23537197 |
2013 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The correlation of the rs16891982 SNP in the SLC45A2 gene with melanoma was used as a case study for analysis of disease risk, and the results were consistent with the incidence and mortality rates of melanoma in published scientific literature.
|
23786662 |
2013 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
In multivariate analysis, melanoma AIM1 methylation status was a significant prognostic factor of OS (P = 0.032).
|
22402438 |
2012 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Adjustment for all clinical potential confounders showed that melanoma risks attributable to MC1R and SLC45A2 variants strongly persisted (OR: 2.01 95% CI: 1.49-2.72 and OR: 0.50, 95% CI: 0.31-0.80, respectively), while the association of TYR p.Arg402Gln was no longer significant.
|
22464347 |
2012 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies three new melanoma susceptibility loci.
|
21983787 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Eight loci were identified in the main meta-analyses as being associated with a risk of CM (P < .05) of which four loci showed a genome-wide statistically significant association (P < 1 × 10(-7)), including 16q24.3 (MC1R), 20q11.22 (MYH7B/PIGU/ASIP), 11q14.3 (TYR), and 5p13.2 (SLC45A2).
|
21693730 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel SNP located on the SLC45A2 gene (rs35414) was found to be significantly associated with melanoma in both phase I and phase II (P<0.0001).
|
21559390 |
2011 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
A novel SNP located on the SLC45A2 gene (rs35414) was found to be significantly associated with melanoma in both phase I and phase II (P<0.0001).
|
21559390 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies three new melanoma susceptibility loci.
|
21983787 |
2011 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma.
|
19578363 |
2009 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
ATG5, an essential gene for autophagy and AIM1, a gene implicated in melanoma, may also participate in the functional abnormalities.
|
19194464 |
2009 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population.
|
18563784 |
2008 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population.
|
18563784 |
2008 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
This is the first time SLC45A2 has been described as a melanoma susceptibility gene in a light-skinned population.
|
18563784 |
2008 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MC1R and SLC45A2 variants had additive effects on melanoma risk, and after adjusting for pigmentation characteristics, the risk was persistent, even though both genes had a strong impact on pigmentation.
|
18683857 |
2008 |
|
melanoma
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
MC1R and SLC45A2 variants had additive effects on melanoma risk, and after adjusting for pigmentation characteristics, the risk was persistent, even though both genes had a strong impact on pigmentation.
|
18683857 |
2008 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We also provide evidence that AIM-1 is transcriptionally modulated by MITF, a melanocyte-specific transcription factor essential to pigmentation and a clinical diagnostic marker in human melanoma.
|
11700328 |
2002 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Deletions of PTEN/MMAC1 on 10q23.3 and AIM1 on 6q21 as well as mutations of ras gene are involved in the later progression stages of melanoma.
|
11323215 |
2001 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
AIM1 is a good candidate for the putative suppressor of malignant melanoma on chromosome 6, possibly exerting its effects through interactions with the cytoskeleton.
|
9096375 |
1997 |
|
melanoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
One cDNA (termed AIM1) was localized to a band-region of chromosome 6 frequently deleted in melanomas (6q21).
|
8700511 |
1996 |