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Single nucleotide polymorphisms in SLC45A2 is associated with melanoma. |
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Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
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TYR is the major OCA (oculocutaneous albinism) gene in Denmark, but several patients do not have mutations in the investigated genes. |
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These novel mutations included one missense substitution D160H and one splice site mutation IVS5+3delAAGT. This is the first Chinese case report of oculocutaneous albinism type 4. |
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strong correlations in MATP-L374F, OCA2, and melanocortin-1 receptor with skin, eye, and hair color variation |
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Variations in the SLC45A2 gene is associated with hair colour variation. |
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the SLC45A2 variant p.Phe374Leu was significantly and strongly protective for melanoma; MC1R and SLC45A2 variants had additive effects on melanoma risk, and after adjusting for pigmentation characteristics, the risk was persistent |
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the variant allele c.1122C>G was associated with protection from MM, was consistently linked with dark hair, dark skin, dark eye color, solar lentigins and childhood sunburns, and is a melanoma susceptibility gene in a light-skinned population. |
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Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
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Most patients with AROA (autosomal recessive ocular albinism) represent phenotypically mild variants of oculocutaneous albinism , well over half of which is OCA1. |
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Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
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12. |
Observational study of gene-disease association. (HuGE Navigator) |
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13. |
Observational study of genotype prevalence. (HuGE Navigator) |
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The purpose of this study was to investigate the molecular basis of Oculocutaneous albinism among Indians using SLC45A2 as the candidate gene. |
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a single-nucleotide polymorphism that has clear association with major human populations in terms of skin color. |
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Ten novel mutations; one deletion, two frameshift mutations, and seven missense mutations were found in German patients with oculocutaneous albinism type 4. |
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The p.L374F allele in SLC45A2 is a more specific ancestry informative marker than the p.A111T allele in SLC24A5, as it clearly distinguishes Sri Lankans from Europeans. |
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The 374Leu allele may contribute to pH changes favoring eumelanin synthesis in melanosomes. The Phe374 allele may alter proton transport and trafficking of melanosomal proteins. |
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19. |
tyrosinase and membrane associated transporter protein polymorphisms may have roles in oculocutaneous albinism type 1 and type 4 in the German population |
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20. |
mutation underlies new form of oculocutaneous albinism, OCA4 |