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TYRP1 rs1408799 is associated with melanoma. |
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Both TRP-1 and galectin-1 were highly expressed in normal melanocytes and melanoma. There was no correlation between TRP-1 or galectin-1 expression and survival. |
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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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Mutation of TYRP1 (OCA3) can modify the OCA2 phenotype, resulting in red hair. |
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An eye color variant in TYRP1 was associated with risk of cutaneous melanoma. |
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6. |
Observational study of gene-disease association. (HuGE Navigator) |
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We observe strong evidence for positive selection for TYRP1 alleles in Africans and in Asians |
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8. |
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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9. |
Anemonin, an active compound of C. crassifolia, inhibits melanin synthesis by inhibiting the transcription of the genes encoding TYR, TRP1, and TRP2. |
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10. |
results shows that organellar pH, proteasome activity, and down-regulation of tyrosinase-related protein 1(TYRP1) expression all contribute to the lack of pigmentation in tyrosinase-positive amelanotic melanoma cells |
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11. |
Melanocytes in vitiligo demonstrate reduced ability to withstand oxidative stress due, partly, to a disruption in microphthalmia-associated transcription factor regulation of Tyrp1. |
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12. |
We have identified the first TYRP1 mutation in non-Africans and have confirmed that TYRP1 mutations are associated with a milder phenotype of oculocutaneous albinism. |
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13. |
These results suggest that phosphorylation of tyrosinase by PKC-beta induces a complex formation between tyrosinase and TRP-1. |
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14. |
DNA sequence variants in the human TYRP1 gene are not associated with inherited pigmentary glaucoma in humans. |
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15. |
The presence of a distal Tyrp1 regulatory element, which specifies melanocyte-specific expression, supports the idea that separate regulatory sequences can mediate differential gene expression in melanocytes and RPE. |
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16. |
Tyrp1 is involved in maintaining stability of tyrosinase protein and modulating its catalytic activity. Tyrp1 is also involved in maintenance of melanosome ultrastructure and affects melanocyte proliferation and melanocyte cell death. |
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17. |
Data suggest that maintenance of a chronically hyperpigmented phenotype in chronically photoexposed human skin is the result of a stable increase in the number of tyrosinase positive melanocytes at these sites. |
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18. |
No genetic susceptibility or increased risk attributed to the tyrosinase gene family in Vogt-Koyanagi-Harada disease in Japanese. |