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Items: 1 to 20 of 143

1.

A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects.

Dimisianos G, Stefanaki I, Nicolaou V, Sypsa V, Antoniou C, Poulou M, Papadopoulos O, Gogas H, Kanavakis E, Nicolaidou E, Katsambas AD, Stratigos AJ.

Exp Dermatol. 2009 Feb;18(2):175-7. doi: 10.1111/j.1600-0625.2008.00758.x. Epub 2008 Jul 7.

PMID:
18637132
2.

p53 codon 72 Pro homozygosity increases the risk of cutaneous melanoma in individuals with dark skin complexion and among noncarriers of melanocortin 1 receptor red hair variants.

Stefanaki I, Stratigos AJ, Dimisianos G, Nikolaou V, Papadopoulos O, Polydorou D, Gogas H, Tsoutsos D, Panagiotou P, Kanavakis E, Antoniou C, Katsambas AD.

Br J Dermatol. 2007 Feb;156(2):357-62.

PMID:
17223878
3.

Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.

Fargnoli MC, Altobelli E, Keller G, Chimenti S, Höfler H, Peris K.

Melanoma Res. 2006 Apr;16(2):175-82.

PMID:
16567973
4.

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.

5.

Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

Kanetsky PA, Ge F, Najarian D, Swoyer J, Panossian S, Schuchter L, Holmes R, Guerry D, Rebbeck TR.

Cancer Epidemiol Biomarkers Prev. 2004 May;13(5):808-19.

6.

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.

Beaumont KA, Shekar SN, Newton RA, James MR, Stow JL, Duffy DL, Sturm RA.

Hum Mol Genet. 2007 Sep 15;16(18):2249-60. Epub 2007 Jul 5. Erratum in: Hum Mol Genet. 2007 Dec 1;16(23):2988. Shekar, Sri L [corrected to Shekar, Sri N].

7.

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
8.

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.

Flanagan N, Healy E, Ray A, Philips S, Todd C, Jackson IJ, Birch-Machin MA, Rees JL.

Hum Mol Genet. 2000 Oct 12;9(17):2531-7.

9.

Skin colour and skin cancer - MC1R, the genetic link.

Sturm RA.

Melanoma Res. 2002 Oct;12(5):405-16. Review.

PMID:
12394181
10.

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
11.

A melanocortin 1 receptor allele suggests varying pigmentation among Neanderthals.

Lalueza-Fox C, Römpler H, Caramelli D, Stäubert C, Catalano G, Hughes D, Rohland N, Pilli E, Longo L, Condemi S, de la Rasilla M, Fortea J, Rosas A, Stoneking M, Schöneberg T, Bertranpetit J, Hofreiter M.

Science. 2007 Nov 30;318(5855):1453-5. Epub 2007 Oct 25.

12.

Melanocortin 1 receptor (MC1R), pigmentary characteristics and sun exposure: findings from a case-control study of diffuse large B-cell and follicular lymphoma.

Kane EV, Painter D, Roman E, Allan J, Law G, Lightfoot T.

Cancer Epidemiol. 2010 Apr;34(2):136-41. doi: 10.1016/j.canep.2010.01.005. Epub 2010 Feb 4.

PMID:
20129839
13.

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
14.

The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent.

Basu Mallick C, Iliescu FM, Möls M, Hill S, Tamang R, Chaubey G, Goto R, Ho SY, Gallego Romero I, Crivellaro F, Hudjashov G, Rai N, Metspalu M, Mascie-Taylor CG, Pitchappan R, Singh L, Mirazon-Lahr M, Thangaraj K, Villems R, Kivisild T.

PLoS Genet. 2013 Nov;9(11):e1003912. doi: 10.1371/journal.pgen.1003912. Epub 2013 Nov 7.

15.

Main pigmentary features and melanocortin 1 receptor (MC1R) gene polymorphisms in the population of the Canary Islands.

de-Misa RF, Pérez-Méndez LI, Hernández-Jiménez JG, Rodríguez Mdel C, Vilar MC, Suárez J, Claveríe-Martín F.

Int J Dermatol. 2008 Aug;47(8):806-11. doi: 10.1111/j.1365-4632.2008.03680.x.

PMID:
18717860
16.

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.

17.

Molecular genetics of human pigmentation diversity.

Sturm RA.

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

18.

Polymorphisms of four pigmentation genes (SLC45A2, SLC24A5, MC1R and TYRP1) among eleven endogamous populations of India.

Mukherjee M, Mukerjee S, Sarkar-Roy N, Ghosh T, Kalpana D, Sharma AK.

J Genet. 2013 Apr;92(1):135-9. No abstract available.

PMID:
23640418
19.

NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes.

Wilson S, Ginger RS, Dadd T, Gunn D, Lim FL, Sawicka M, Sandel M, Schnetkamp PP, Green MR.

Adv Exp Med Biol. 2013;961:95-107. doi: 10.1007/978-1-4614-4756-6_9. Review.

PMID:
23224873
20.

Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.

Nakayama K, Soemantri A, Jin F, Dashnyam B, Ohtsuka R, Duanchang P, Isa MN, Settheetham-Ishida W, Harihara S, Ishida T.

Hum Genet. 2006 Apr;119(3):322-30. Epub 2006 Feb 4.

PMID:
16463023
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