| 1 | ASIP, BNC2, IRF4, MC1R, RALY
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| A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.
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| Jacobs LC, Hamer MA, Gunn DA, Deelen J, Lall JS, van Heemst D, Uh HW, Hofman A, Uitterlinden AG, Griffiths CE, Beekman M, Slagboom PE, Kayser M, Liu F, Nijsten T.
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| J Invest Dermatol 135(7):1735-42. doi: 10.1038/jid.2015.62. Epub 2015 Feb 23.
2015
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| 2 | MC1R, MET
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| A melanin-independent interaction between Mc1r and Met signaling pathways is required for HGF-dependent melanoma.
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| Wolnicka-Glubisz A, Strickland FM, Wielgus A, Anver M, Merlino G, De Fabo EC, Noonan FP.
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| Int J Cancer 136(4):752-60. doi: 10.1002/ijc.29050. Epub 2014 Jul 7.
2015
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| 3 | MC1R, POMC
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| Significance of the melanocortin 1 receptor in the DNA damage response of human melanocytes to ultraviolet radiation.
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| Swope V, Alexander C, Starner R, Schwemberger S, Babcock G, Abdel-Malek ZA.
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| Pigment Cell Melanoma Res 27(4):601-10. doi: 10.1111/pcmr.12252. Epub 2014 May 12.
2014
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| 4 | AKT1, MC1R, POMC
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| Alpha-melanocyte stimulating hormone protects retinal pigment epithelium cells from oxidative stress through activation of melanocortin 1 receptor-Akt-mTOR signaling.
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| Cheng LB, Cheng L, Bi HE, Zhang ZQ, Yao J, Zhou XZ, Jiang Q.
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| Biochem Biophys Res Commun 443(2):447-52. doi: 10.1016/j.bbrc.2013.11.113. Epub 2013 Dec 6.
2014
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| 5 | MC1R
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| Insufficient expression of the melanocortin-1 receptor by human dermal fibroblasts contributes to excess collagen synthesis in keloid scars.
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| Luo LF, Shi Y, Zhou Q, Xu SZ, Lei TC.
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| Exp Dermatol 22(11):764-6. doi: 10.1111/exd.12250.
2013
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| 6 | MC1R, PTEN
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| MC1R is a potent regulator of PTEN after UV exposure in melanocytes.
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| Cao J, Wan L, Hacker E, Dai X, Lenna S, Jimenez-Cervantes C, Wang Y, Leslie NR, Xu GX, Widlund HR, Ryu B, Alani RM, Dutton-Regester K, Goding CR, Hayward NK, Wei W, Cui R.
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| Mol Cell 51(4):409-22. doi: 10.1016/j.molcel.2013.08.010.
2013
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| 7 | MC1R
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| MC1R and cAMP signaling inhibit cdc25B activity and delay cell cycle progression in melanoma cells.
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| Lyons J, Bastian BC, McCormick F.
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| Proc Natl Acad Sci U S A 110(34):13845-50. doi: 10.1073/pnas.1201917110. Epub 2013 Aug 1.
2013
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| 8 | MC1R, SDC2
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| Melanocortin 1 receptor regulates melanoma cell migration by controlling syndecan-2 expression.
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| Chung H, Lee JH, Jeong D, Han IO, Oh ES.
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| J Biol Chem 287(23):19326-35. doi: 10.1074/jbc.M111.334730. Epub 2012 Apr 6.
2012
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| 9 | MC1R
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| Functional status and relationships of melanocortin 1 receptor signaling to the cAMP and extracellular signal-regulated protein kinases 1 and 2 pathways in human melanoma cells.
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| Herraiz C, Journé F, Ghanem G, Jiménez-Cervantes C, García-Borrón JC.
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| Int J Biochem Cell Biol 44(12):2244-52. doi: 10.1016/j.biocel.2012.09.008. Epub 2012 Sep 19.
2012
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| 10 | MC1R, POMC
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| Alpha-melanocyte-stimulating hormone suppresses oxidative stress through a p53-mediated signaling pathway in human melanocytes.
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| Kadekaro AL, Chen J, Yang J, Chen S, Jameson J, Swope VB, Cheng T, Kadakia M, Abdel-Malek Z.
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| Mol Cancer Res 10(6):778-86. doi: 10.1158/1541-7786.MCR-11-0436. Epub 2012 May 23.
2012
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| 11 | DEFB103B, MC1R
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| Melanocortin-1 receptor-mediated signalling pathways activated by NDP-MSH and HBD3 ligands.
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| Beaumont KA, Smit DJ, Liu YY, Chai E, Patel MP, Millhauser GL, Smith JJ, Alewood PF, Sturm RA.
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| Pigment Cell Melanoma Res 25(3):370-4. doi: 10.1111/j.1755-148X.2012.00990.x. Epub 2012 Mar 19.
2012
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| 12 | CNR1, MC1R, POMC
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| Endocannabinoids stimulate human melanogenesis via type-1 cannabinoid receptor.
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| Pucci M, Pasquariello N, Battista N, Di Tommaso M, Rapino C, Fezza F, Zuccolo M, Jourdain R, Finazzi Agrò A, Breton L, Maccarrone M.
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| J Biol Chem 287(19):15466-78. doi: 10.1074/jbc.M111.314880. Epub 2012 Mar 19.
2012
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| 13 | MC1R, UBE3A
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| UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome.
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| Low D, Chen KS.
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| Pigment Cell Melanoma Res 24(5):944-52. doi: 10.1111/j.1755-148X.2011.00884.x. Epub 2011 Jul 27.
2011
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| 14 | MC1R, POMC
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| Spatial and temporal localization of the melanocortin 1 receptor and its ligand α-melanocyte-stimulating hormone during cutaneous wound repair.
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| Muffley LA, Zhu KQ, Engrav LH, Gibran NS, Hocking AM.
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| J Histochem Cytochem 59(3):278-88. doi: 10.1369/0022155410397999. Epub 2011 Jan 12.
2011
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| 15 | MC1R, POMC, TUBB3
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| Alpha-MSH regulates intergenic splicing of MC1R and TUBB3 in human melanocytes.
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| Dalziel M, Kolesnichenko M, das Neves RP, Iborra F, Goding C, Furger A.
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| Nucleic Acids Res 39(6):2378-92. doi: 10.1093/nar/gkq1125. Epub 2010 Nov 11.
2011
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| 16 | MC1R
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| Involvement of the melanocortin-1 receptor in acute pain and pain of inflammatory but not neuropathic origin.
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| Delaney A, Keighren M, Fleetwood-Walker SM, Jackson IJ.
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| PLoS One 5(9):e12498. doi: 10.1371/journal.pone.0012498.
2010
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| 17 | MC1R
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| Melanocortin 1 receptor genotype: an important determinant of the damage response of melanocytes to ultraviolet radiation.
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| Kadekaro AL, Leachman S, Kavanagh RJ, Swope V, Cassidy P, Supp D, Sartor M, Schwemberger S, Babcock G, Wakamatsu K, Ito S, Koshoffer A, Boissy RE, Manga P, Sturm RA, Abdel-Malek ZA.
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| FASEB J 24(10):3850-60. doi: 10.1096/fj.10-158485. Epub 2010 Jun 2.
2010
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| 18 | ASIP, CDK4, CDKN2A, CMM1, CMM2, CMM20, CMM3, CMM4, MC1R, TYR, TYRP1
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| Genetic risk factors for melanoma.
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| Meyle KD, Guldberg P.
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| Hum Genet 126(4):499-510. Epub 2009 Jul 8. Review.
2009
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| 19 | HERC2, MC1R, OCA2
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| Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
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| Branicki W, Brudnik U, Wojas-Pelc A.
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| Ann Hum Genet 73(2):160-70. Epub 2009 Feb 4.PMID: 19208107 2009
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| 20 | MC1R
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| Mechanism of dimerization of the human melanocortin 1 receptor.
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| Zanna PT, S‡nchez-Laorden BL, PŽrez-Oliva AB, Turp’n MC, Herraiz C, JimŽnez-Cervantes C, Garc’a-Borr—n JC.
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| Biochem Biophys Res Commun 368(2):211-6. Epub 2008 Jan 24. 2008
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| 21 | NR4A1, MC1R
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| Melanocortin-1 receptor signaling markedly induces the expression of the NR4A nuclear receptor subgroup in melanocytic cells.
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| Smith AG, Luk N, Newton RA, Roberts DW, Sturm RA, Muscat GE.
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| J Biol Chem 283(18):12564-70. Epub 2008 Feb 21. 2008
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| 22 | ASIP, TPCN2, MC1R, TYRP1
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| Two newly identified genetic determinants of pigmentation in Europeans.
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| Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Jakobsdottir M, Steinberg S, Gudjonsson SA, Palsson A, Thorleifsson G, P‡lsson 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.
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| Nat Genet 40(7):835-7. Epub 2008 May 18. 2008
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| 23 | MC1R, SLC45A2
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| Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
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| Guedj M, Bourillon A, Combadières C, Rodero M, Dieudé P, Descamps V, Dupin N, Wolkenstein P, Aegerter P, Lebbe C, Basset-Seguin N, Prum B, Saiag P, Grandchamp B, Soufir N; MelanCohort Investigators.
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| Hum Mutat 29(9):1154-60.
2008
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| 24 | MC1R
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| Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer.
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| Sanchez-Laorden BL, Jimenez-Cervantes C, Garcia-Borron JC.
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| J Biol Chem 282(5):3241-51. Epub 2006 Nov 27. 2007
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| 25 | SLC24A4, KITLG, TYR, MC1R, OCA2, HERC2, HECD
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| Genetic determinants of hair, eye and skin pigmentation in Europeans.
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| Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, P‡lsson 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.
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| Nat Genet 39(12):1443-52. Epub 2007 Oct 21. 2007
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| 26 | MC1R, BRAF
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| MC1R germline variants confer risk for BRAF-mutant melanoma.
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| Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC.
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| Science 313(5786):521-2. Epub 2006 Jun 29. 2006
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| 27 | MC1R
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| Variant amino acids in different domains of the human melanocortin 1 receptor impair cell surface expression.
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| S‡nchez-Laorden BL, S‡nchez-M‡s J, Turp’n MC, Garc’a-Borr—n JC, JimŽnez-Cervantes C.
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| Cell Mol Biol (Noisy-le-grand) 52(2):39-46. 2006
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| 28 | MC1R
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| Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.
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| Stratigos AJ, Dimisianos G, Nikolaou V, Poulou M, Sypsa V, Stefanaki I, Papadopoulos O, Polydorou D, Plaka M, Christofidou E, Gogas H, Tsoutsos D, Kastana O, Antoniou C, Hatzakis A, Kanavakis E, Katsambas AD.
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| J Invest Dermatol 126(8):1842-9. Epub 2006 Apr 6.
2006
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| 29 | MC1R, HCL4
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| Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans.
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| Mogil JS, Ritchie J, Smith SB, Strasburg K, Kaplan L, Wallace MR, Romberg RR, Bijl H, Sarton EY, Fillingim RB, Dahan A.
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| J Med Genet 42(7):583-7. 2005
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| 30 | MC1R
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| Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk.
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| Beaumont KA, Newton RA, Smit DJ, Leonard JH, Stow JL, Sturm RA.
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| Hum Mol Genet 14(15):2145-54. Epub 2005 Jun 22. 2005
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| 31 | OCA2, MC1R
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| Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
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| Jannot AS, Meziani R, Bertrand G, Gerard 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.
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| Eur J Hum Genet [Epub ahead of print] 2005
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| 32 | MC1R, OCA2
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| Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
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| Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA.
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| Hum Mol Genet 13(4):447-61. Epub 2004 Jan 06. 2004
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| 33 | MC1R, OCA2
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| MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).
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| King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS.
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| Am J Hum Genet 73(3):638-45. Epub 2003 Jul 22. 2003
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| 34 | MC1R
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| Human melanocortin 1 receptor (MC1R) gene variants alter melanoma cell growth and adhesion to extracellular matrix.
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| Robinson SJ, Healy E.
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| Oncogene 21(52):8037-46. 2002
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| 35 | MC1R
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| The melanocortin-1-receptor gene is the major freckle gene.
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| Bastiaens M, ter Huurne J, Gruis N, Bergman W, Westendorp R, Vermeer BJ, Bouwes Bavinck JN.
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| Hum Mol Genet 10(16):1701-8. 2001
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| 36 | MC1R
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| Functional variation of MC1R alleles from red-haired individuals.
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| Healy E, Jordan SA, Budd PS, Suffolk R, Rees JL, Jackson IJ.
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| Hum Mol Genet 10(21):2397-402. 2001
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| 37 | MC1R
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| Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.
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| van der Velden PA, Sandkuijl LA, Bergman W, Pavel S, van Mourik L, Frants RR, Gruis NA.
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| Am J Hum Genet 69(4):774-9. 2001
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| 38 | MC1R
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| MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations.
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| Box NF, Duffy DL, Chen W, Stark M, Martin NG, Sturm RA, Hayward NK.
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| Am J Hum Genet 69(4):765-73. 2001
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| 39 | MC1R
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| Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma.
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| Box NF, Duffy DL, Irving RE, Russell A, Chen W, Griffyths LR, Parsons PG, Green AC, Sturm RA.
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| J Invest Dermatol 116(2):224-9. 2001
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| 40 | TCF25, MC1R
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| Human DNA sequence variation in a 6.6-kb region containing the melanocortin 1 receptor promoter.
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| Makova KD, Ramsay M, Jenkins T, Li WH.
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| Genetics 158(3):1253-68. 2001
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| 41 | MC1R
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| Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.
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| Jimenez-Cervantes C, Germer S, Gonzalez P, Sanchez J, Sanchez CO, Garcia-Borron JC.
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| FEBS Lett 508(1):44-8. 2001
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| 42 | MC1R
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| Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?
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| Palmer JS, Duffy DL, Box NF, Aitken JF, O'Gorman LE, Green AC, Hayward NK, Martin NG, Sturm RA.
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| Am J Hum Genet 66(1):176-86. 2000
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| 43 | MC1R
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| Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation.
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| Flanagan N, Healy E, Ray A, Philips S, Todd C, Jackson IJ, Birch-Machin MA, Rees JL.
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| Hum Mol Genet 9(17):2531-7. 2000
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| 44 | MC1R
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| High polymorphism at the human melanocortin 1 receptor locus.
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| Rana BK, et al.
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| Genetics 151(4):1547-57. 1999
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| 45 | MC1R
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| Molecular analysis of a new splice variant of the human melanocortin-1 receptor.
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| Tan CP, et al.
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| FEBS Lett 451(2):137-41. 1999
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| 46 | HCL4, MC1R
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| Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair.
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| Schioth HB, et al.
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| Biochem Biophys Res Commun 260(2):488-91 1999
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| 47 | MC1R
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| Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene.
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| Moro O, Ideta R, Ifuku O.
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| Biochem Biophys Res Commun 262(2):452-60 1999
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| 48 | MC1R
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| Human pigmentation phenotype : a point mutation generates nonfunctional MSH receptor.
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| Frandberg PA, et al.
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| Biochem Biophys Res Commun 245 : 490-492. 1998
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| 49 | RPL13, CDK10, SPG7, DPEP1, FANCA, MC1R, CHMP1A
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| Construction of a high-resolution physical and transcription map of chromosome 16q24.3 : a region of frequent loss of heterozygosity in sporadic breast cancer.
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| Whitmore SA, et al.
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| Genomics 50 : 1-8. 1998
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| 50 | HCL4, MC1R
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| Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects.
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| Koppula SV, et al.
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| Hum Mutat 9 : 30-36. 1997
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| 51 | MC1R
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| Characterisation of D117A and H260A mutations in the melanocortin 1 receptor.
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| Schišth HB, et al.
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| Mol Cell Endocrinol 126 : 213-219. 1997
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| 52 | MC1R, HADC, MC3R, MC4R
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| Deletions of the N-terminal regions of the human melanocortin receptors.
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| Schioth HB, Petersson S, Muceniece R, Szardenings M, Wikberg JE.
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| FEBS Lett 410(2-3):223-8. 1997
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| 53 | HCL4, MC1R
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| Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.
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| Box NF, Wyeth JR, O'Gorman LE, Martin NG, Sturm RA.
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| Hum Mol Genet 6(11):1891-7. 1997
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| 54 | MC1R
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| The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.
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| Valverde P, et al.
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| Hum Mol Genet 5 : 1663-1666. 1996
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| 55 | MC1R, HCL4
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| Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.
|
| Valverde P, et al.
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| Nat Genet 11 : 328-330. 1995
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| 56 | MC1R
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| Mapping of the gene encoding the melanocortin-1 (alpha-melanocyte stimulating hormone) receptor (MC1R) to human chromosome 16q24.3 by fluorescence in situ hybridization.
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| Gantz I, et al.
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| Genomics 19 : 394-395. 1994
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| 57 | MC1R, HADC, MC3R, MC4R, MC1RH1, MC1RH2
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| Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.
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| Magenis RE, et al.
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| Mamm Genome 5 : 503-508. 1994
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| 58 | MC1R, MC3R, MC4R
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| Molecular cloning of a novel melanocortin receptor.
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| Gantz I, et al.
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| J Biol Chem 268 : 8246-8250. 1993
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| 59 | MC1R
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| Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.
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| Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L, Baack E, Mountjoy KG, Cone RD.
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| Cell 72(6):827-34. 1993
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| 60 | MC1R
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| The cloning of a family of genes that encode the melanocortin receptors.
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| Mountjoy KG, Robbins LS, Mortrud MT, Cone RD.
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| Science 257(5074):1248-51. 1992
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| 61 | MC1R
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| Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA.
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| Chhajlani V, Wikberg JE.
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| FEBS Lett 309(3):417-20. 1992
|