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Items: 1 to 20 of 310

1.

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA.

Am J Hum Genet. 2007 Feb;80(2):241-52. Epub 2006 Dec 20.

2.

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.

Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA.

Hum Mol Genet. 2004 Feb 15;13(4):447-61. Epub 2004 Jan 6.

3.

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.

Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L.

Hum Genet. 2008 Mar;123(2):177-87. doi: 10.1007/s00439-007-0460-x. Epub 2008 Jan 3.

PMID:
18172690
4.

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW.

Am J Hum Genet. 2008 Feb;82(2):424-31. doi: 10.1016/j.ajhg.2007.11.005. Epub 2008 Jan 24.

5.

Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.

Iida R, Ueki M, Takeshita H, Fujihara J, Nakajima T, Kominato Y, Nagao M, Yasuda T.

Cell Biochem Funct. 2009 Jul;27(5):323-7. doi: 10.1002/cbf.1572.

PMID:
19472299
6.

Multilocus OCA2 genotypes specify human iris colors.

Frudakis T, Terravainen T, Thomas M.

Hum Genet. 2007 Nov;122(3-4):311-26. Epub 2007 Jul 7.

PMID:
17619204
7.

Genetic determinants of hair, eye and skin pigmentation in Europeans.

Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, Pálsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2007 Dec;39(12):1443-52. Epub 2007 Oct 21.

PMID:
17952075
8.

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW, Hayward NK, Thomas G, Hoover RN, Chanock S, Hunter DJ.

PLoS Genet. 2008 May 16;4(5):e1000074. doi: 10.1371/journal.pgen.1000074.

9.

Molecular genetics of human pigmentation diversity.

Sturm RA.

Hum Mol Genet. 2009 Apr 15;18(R1):R9-17. doi: 10.1093/hmg/ddp003. Review.

10.

Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.

Branicki W, Brudnik U, Wojas-Pelc A.

Ann Hum Genet. 2009 Mar;73(2):160-70. doi: 10.1111/j.1469-1809.2009.00504.x. Epub 2009 Feb 4.

11.

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ijcken WF, den Dunnen JT, Heath S, Zelenika D, Despriet DD, Klaver CC, Vingerling JR, de Jong PT, Hofman A, Aulchenko YS, Uitterlinden AG, Oostra BA, van Duijn CM.

Am J Hum Genet. 2008 Feb;82(2):411-23. doi: 10.1016/j.ajhg.2007.10.003. Epub 2008 Jan 25. Erratum in: Am J Hum Genet. 2008 Mar;82(3):801.

12.
13.

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

Jannot AS, Meziani R, Bertrand G, Gérard B, Descamps V, Archimbaud A, Picard C, Ollivaud L, Basset-Seguin N, Kerob D, Lanternier G, Lebbe C, Saiag P, Crickx B, Clerget-Darpoux F, Grandchamp B, Soufir N, Melan-Cohort.

Eur J Hum Genet. 2005 Aug;13(8):913-20.

14.

Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method.

Branicki W, Brudnik U, Kupiec T, Wolańska-Nowak P, Szczerbińska A, Wojas-Pelc A.

Ann Hum Genet. 2008 Mar;72(Pt 2):184-92. Epub 2007 Dec 18.

15.

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.

Cook AL, Chen W, Thurber AE, Smit DJ, Smith AG, Bladen TG, Brown DL, Duffy DL, Pastorino L, Bianchi-Scarra G, Leonard JH, Stow JL, Sturm RA.

J Invest Dermatol. 2009 Feb;129(2):392-405. doi: 10.1038/jid.2008.211. Epub 2008 Jul 24.

16.

The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes.

Sturm RA, Duffy DL, Box NF, Chen W, Smit DJ, Brown DL, Stow JL, Leonard JH, Martin NG.

Pigment Cell Res. 2003 Jun;16(3):266-72. Review.

PMID:
12753400
17.

Association of the SLC45A2 gene with physiological human hair colour variation.

Branicki W, Brudnik U, Draus-Barini J, Kupiec T, Wojas-Pelc A.

J Hum Genet. 2008;53(11-12):966-71. doi: 10.1007/s10038-008-0338-3. Epub 2008 Sep 20.

PMID:
18806926
18.

A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.

Zhu G, Evans DM, Duffy DL, Montgomery GW, Medland SE, Gillespie NA, Ewen KR, Jewell M, Liew YW, Hayward NK, Sturm RA, Trent JM, Martin NG.

Twin Res. 2004 Apr;7(2):197-210.

PMID:
15169604
19.

Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.

Nan H, Kraft P, Hunter DJ, Han J.

Int J Cancer. 2009 Aug 15;125(4):909-17. doi: 10.1002/ijc.24327.

20.

Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.

Ibarrola-Villava M, Fernandez LP, Pita G, Bravo J, Floristan U, Sendagorta E, Feito M, Avilés JA, Martin-Gonzalez M, Lázaro P, Benítez J, Ribas G.

Exp Dermatol. 2010 Sep;19(9):836-44. doi: 10.1111/j.1600-0625.2010.01115.x. Epub 2010 Jul 14.

PMID:
20629734
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