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Items: 1 to 20 of 48

1.

Genotype versus phenotype: human pigmentation.

Tully G.

Forensic Sci Int Genet. 2007 Jun;1(2):105-10. doi: 10.1016/j.fsigen.2007.01.005. Epub 2007 Mar 1.

PMID:
19083738
2.

Two newly identified genetic determinants of pigmentation in Europeans.

Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Jakobsdottir M, Steinberg S, Gudjonsson SA, Palsson A, Thorleifsson G, Pálsson S, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Vermeulen SH, Goldstein AM, Tucker MA, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2008 Jul;40(7):835-7. doi: 10.1038/ng.160. Epub 2008 May 18.

PMID:
18488028
3.

Red hair is the null phenotype of MC1R.

Beaumont KA, Shekar SN, Cook AL, Duffy DL, Sturm RA.

Hum Mutat. 2008 Aug;29(8):E88-94. doi: 10.1002/humu.20788.

PMID:
18484624
4.

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.

5.

Characterization of melanin in human iridal and choroidal melanocytes from eyes with various colored irides.

Wakamatsu K, Hu DN, McCormick SA, Ito S.

Pigment Cell Melanoma Res. 2008 Feb;21(1):97-105. doi: 10.1111/j.1755-148X.2007.00415.x.

PMID:
18353148
6.

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.

7.

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.

8.

SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.

Ginger RS, Askew SE, Ogborne RM, Wilson S, Ferdinando D, Dadd T, Smith AM, Kazi S, Szerencsei RT, Winkfein RJ, Schnetkamp PP, Green MR.

J Biol Chem. 2008 Feb 29;283(9):5486-95. doi: 10.1074/jbc.M707521200. Epub 2007 Dec 28.

9.

A genomewide association study of skin pigmentation in a South Asian population.

Stokowski RP, Pant PV, Dadd T, Fereday A, Hinds DA, Jarman C, Filsell W, Ginger RS, Green MR, van der Ouderaa FJ, Cox DR.

Am J Hum Genet. 2007 Dec;81(6):1119-32. Epub 2007 Oct 15.

10.

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
11.

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
12.

Determination of phenotype associated SNPs in the MC1R gene.

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

J Forensic Sci. 2007 Mar;52(2):349-54.

PMID:
17316231
13.

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.

14.

Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.

Lao O, de Gruijter JM, van Duijn K, Navarro A, Kayser M.

Ann Hum Genet. 2007 May;71(Pt 3):354-69. Epub 2007 Jan 18.

15.

Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis.

Yuasa I, Umetsu K, Harihara S, Kido A, Miyoshi A, Saitou N, Dashnyam B, Jin F, Lucotte G, Chattopadhyay PK, Henke L, Henke J.

Ann Hum Genet. 2006 Nov;70(Pt 6):802-11.

16.

Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2.

Soejima M, Koda Y.

Int J Legal Med. 2007 Jan;121(1):36-9. Epub 2006 Jul 18.

PMID:
16847698
17.

A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA.

Voisey J, Gomez-Cabrera Mdel C, Smit DJ, Leonard JH, Sturm RA, van Daal A.

Pigment Cell Res. 2006 Jun;19(3):226-31.

PMID:
16704456
18.

SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.

Lamason RL, Mohideen MA, Mest JR, Wong AC, Norton HL, Aros MC, Jurynec MJ, Mao X, Humphreville VR, Humbert JE, Sinha S, Moore JL, Jagadeeswaran P, Zhao W, Ning G, Makalowska I, McKeigue PM, O'donnell D, Kittles R, Parra EJ, Mangini NJ, Grunwald DJ, Shriver MD, Canfield VA, Cheng KC.

Science. 2005 Dec 16;310(5755):1782-6.

19.

The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.

Bonilla C, Boxill LA, Donald SA, Williams T, Sylvester N, Parra EJ, Dios S, Norton HL, Shriver MD, Kittles RA.

Hum Genet. 2005 Apr;116(5):402-6. Epub 2005 Feb 22.

PMID:
15726415
20.
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