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1. |
The variant allele of OCA2 R419Q (rs1800407) is associated with increased risk of malignant melanoma. |
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2. |
Three single nucleotide polymorphisms found within intron 1 of the OCA2 gene (rs7495174, rs4778241, rs4778138). 30 UTR region (rs1129038) of the HERC2 gene |
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3. |
The OCA2 Arg419Gln is associated with basal cell carcinoma |
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4. |
OCA2 is targeted to and functions within melanosomes but that residence within melanosomes may be regulated by secondary or alternative targeting to lysosomes. |
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5. |
Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia |
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6. |
Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator) |
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7. |
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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8. |
It is concluded that OCA2 rs1800407 is associated with eye colour. |
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9. |
strong correlations in MATP-L374F, OCA2, and melanocortin-1 receptor with skin, eye, and hair color variation, respectively |
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10. |
OCA2 and HERC2 have roles in hair color in Australian adolescents |
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11. |
Oculocutaneous albinism phenotype (OCA2) can be modified by mutation in TYRP1. |
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12. |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
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13. |
Variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour. |
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14. |
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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15. |
results confirm that OCA2 is the major human iris color gene and suggest that using an empirical database-driven system, genotypes from a modest number of SNPs within this gene can be used to accurately predict iris melanin content from DNA |
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16. |
Genome-wide association study of gene-disease association. (HuGE Navigator) |
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17. |
Observational study of genotype prevalence. (HuGE Navigator) |
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18. |
Observational study of gene-disease association. (HuGE Navigator) |
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19. |
Human DNA sequences;hair colour |
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20. |
Pink-eye-dilution gene mutations underlie oculocutaneous albinism in this family. Two known mutations in MC1R caused red hair color in one family member. No modifier effect of MC1R on P mutations could be deduced. |
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21. |
3 different haplotypes (TAGCT, TAGTT and TAGCC with frequencies of 0.66, 0.28 and 0.06, respectively) associated with the mutation in the 53 OCA2 patients, while 11 different haplotypes were observed in the control group |
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22. |
These findings suggest that OCA2 481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations. |
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23. |
P gene, in part, determiontes normal phenotypic variation in human eye color and may represent an inherited biomarkers of cutaneous cancer risk |
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24. |
two missense substitutions, A481T and Q799H in the P gene in oculocutaneous albinism |
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25. |
9 novel mutations and 12 novel polymorphisms associated with oculocutaneous albinism type II are reported. |
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26. |
we show that MM and OCA2 are associated (p value=0.030 after correction for multiple testing). |
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27. |
Differences within the 5' proximal regulatory control region of the OCA2 gene alter expression or messenger RNA-transcript levels and may be responsible for eye-color and other pigmentary trait associations. |
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28. |
A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population |
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29. |
We show that OCA2 has measurable effects on skin pigmentation differences between the west African and west European parental populations. |
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30. |
A candidate gene for pigmentation. |
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31. |
The macular hypoplasia has to be considered a concerted interaction with compound heterozygous mutations in the P gene manifesting a mild form of oculocutaneous albinism. |
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32. |
role of P protein and tyrosinase in oculocutaneous albinism |