Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 301

1.

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
2.

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
3.

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.

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.

Human eye colour and HERC2, OCA2 and MATP.

Mengel-From J, Børsting C, Sanchez JJ, Eiberg H, Morling N.

Forensic Sci Int Genet. 2010 Oct;4(5):323-8. doi: 10.1016/j.fsigen.2009.12.004. Epub 2010 Jan 12.

PMID:
20457063
6.

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.

7.

Genetics of human iris colour and patterns.

Sturm RA, Larsson M.

Pigment Cell Melanoma Res. 2009 Oct;22(5):544-62. doi: 10.1111/j.1755-148X.2009.00606.x. Epub 2009 Jul 8. Review.

PMID:
19619260
8.

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.

Visser M, Kayser M, Palstra RJ.

Genome Res. 2012 Mar;22(3):446-55. doi: 10.1101/gr.128652.111. Epub 2012 Jan 10.

9.

Blue eyes in lemurs and humans: same phenotype, different genetic mechanism.

Bradley BJ, Pedersen A, Mundy NI.

Am J Phys Anthropol. 2009 Jun;139(2):269-73. doi: 10.1002/ajpa.21010.

PMID:
19278018
10.

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.

PMID:
14709592
11.

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.

12.

Genetic analyses of the human eye colours using a novel objective method for eye colour classification.

Andersen JD, Johansen P, Harder S, Christoffersen SR, Delgado MC, Henriksen ST, Nielsen MM, Sørensen E, Ullum H, Hansen T, Dahl AL, Paulsen RR, Børsting C, Morling N.

Forensic Sci Int Genet. 2013 Sep;7(5):508-15. doi: 10.1016/j.fsigen.2013.05.003. Epub 2013 Jun 28.

PMID:
23948321
13.

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
14.

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
15.

Genotype-phenotype associations and human eye color.

White D, Rabago-Smith M.

J Hum Genet. 2011 Jan;56(1):5-7. doi: 10.1038/jhg.2010.126. Epub 2010 Oct 14. Review.

PMID:
20944644
16.

Prediction of eye color in the Slovenian population using the IrisPlex SNPs.

Kastelic V, Pośpiech E, Draus-Barini J, Branicki W, Drobnič K.

Croat Med J. 2013 Aug;54(4):381-6.

17.

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.

18.

Improved eye- and skin-color prediction based on 8 SNPs.

Hart KL, Kimura SL, Mushailov V, Budimlija ZM, Prinz M, Wurmbach E.

Croat Med J. 2013 Jun;54(3):248-56.

19.

Sequences associated with human iris pigmentation.

Frudakis T, Thomas M, Gaskin Z, Venkateswarlu K, Chandra KS, Ginjupalli S, Gunturi S, Natrajan S, Ponnuswamy VK, Ponnuswamy KN.

Genetics. 2003 Dec;165(4):2071-83. Review.

20.

Supplemental Content

Support Center