-
1
-
-
79960295028
-
Epidemiologic risk factors of basal cell carcinoma development and age of onset in a Southern European population from Greece
-
Dessinioti, C., K. Tzannis, V. Sypsa, V. Nikolaou, K. Kypreou, C. Antoniou, A. Katsambas, and, A. J. Stratigos, (2011) Epidemiologic risk factors of basal cell carcinoma development and age of onset in a Southern European population from Greece. Exp. Dermatol. 20, 622-626.
-
(2011)
Exp. Dermatol
, vol.20
, pp. 622-626
-
-
Dessinioti, C.1
Tzannis, K.2
Sypsa, V.3
Nikolaou, V.4
Kypreou, K.5
Antoniou, C.6
Katsambas, A.7
Stratigos, A.J.8
-
2
-
-
20244369752
-
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans
-
Bonilla, C., L. A. Boxill, S. A. Donald, T. Williams, N. Sylvester, E. J. Parra, S. Dios, H. L. Norton, M. D. Shriver, and, R. A. Kittles, (2005) The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. Hum. Genet. 116, 402-406.
-
(2005)
Hum. Genet.
, vol.116
, pp. 402-406
-
-
Bonilla, C.1
Boxill, L.A.2
Donald, S.A.3
Williams, T.4
Sylvester, N.5
Parra, E.J.6
Dios, S.7
Norton, H.L.8
Shriver, M.D.9
Kittles, R.A.10
-
3
-
-
51549094379
-
SLC45A2: A novel malignant melanoma-associated gene
-
Fernandez, L. P., R. L. Milne, G. Pita, J. A. Avilés, P. Lázaro, J. Benítez, and, G. Ribas, (2008) SLC45A2: A novel malignant melanoma-associated gene. Hum. Mutat. 29, 1161-1167.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1161-1167
-
-
Fernandez, L.P.1
Milne, R.L.2
Pita, G.3
Avilés, J.A.4
Lázaro, P.5
Benítez, J.6
Ribas, G.7
-
4
-
-
14944367557
-
Single nucleotide polymorphisms in the MATP gene is associated with normal human pigmentation variation
-
Graf, J., R. Hodgson, and, A. van Daal, (2005) Single nucleotide polymorphisms in the MATP gene is associated with normal human pigmentation variation. Hum. Mutat. 25, 278-284.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 278-284
-
-
Graf, J.1
Hodgson, R.2
Van Daal, A.3
-
5
-
-
0036181358
-
A polymorphism in the agouti protein gene is associated with human pigmentation
-
Kanetsky, P. A., J. Swoyer, S. Panossian, R. Holmes, D. Guerry, and, T. R. Rebbeck, (2002) A polymorphism in the agouti protein gene is associated with human pigmentation. Am. J. Hum. Genet. 70, 770-775.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 770-775
-
-
Kanetsky, P.A.1
Swoyer, J.2
Panossian, S.3
Holmes, R.4
Guerry, D.5
Rebbeck, T.R.6
-
6
-
-
0036215886
-
Distinctive distribution of AIM1 polymorphism among major human populations with different skin color
-
Nakayama, K., S. Fukamachi, H. Kimura, Y. Koda, A. Soemantri, and, T. Ishida, (2002) Distinctive distribution of AIM1 polymorphism among major human populations with different skin color. J. Hum. Genet. 47, 92-94.
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 92-94
-
-
Nakayama, K.1
Fukamachi, S.2
Kimura, H.3
Koda, Y.4
Soemantri, A.5
Ishida, T.6
-
7
-
-
0036325172
-
P gene as an inherited biomarker of human eye color
-
Rebbeck, T. R., P. A. Kanetsky, A. H. Walker, R. Holmes, A. C. Halpern, L. M. Schuchter, D. E. Elder, and, D. Guerry, (2002) P gene as an inherited biomarker of human eye color. Cancer Epidemiol. Biomarkers Prev. 11, 782-784.
-
(2002)
Cancer Epidemiol. Biomarkers Prev.
, vol.11
, pp. 782-784
-
-
Rebbeck, T.R.1
Kanetsky, P.A.2
Walker, A.H.3
Holmes, R.4
Halpern, A.C.5
Schuchter, L.M.6
Elder, D.E.7
Guerry, D.8
-
8
-
-
33747184831
-
A golden age of human pigmentation genetics
-
Strum, R. A., (2006) A golden age of human pigmentation genetics. Trends Genet. 22, 464-468.
-
(2006)
Trends Genet.
, vol.22
, pp. 464-468
-
-
Strum, R.A.1
-
9
-
-
0034124462
-
The melanocortin 1 receptor (MC1R): More than just red hair
-
Rees, J. L., (2000) The melanocortin 1 receptor (MC1R): More than just red hair. Pigment Cell Res. 13, 135-140.
-
(2000)
Pigment Cell Res.
, vol.13
, pp. 135-140
-
-
Rees, J.L.1
-
10
-
-
6344290128
-
The genetics of sun sensitivity in humans
-
Rees, J. L., (2004) The genetics of sun sensitivity in humans. Am. J. Hum. Genet. 75, 739-751.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 739-751
-
-
Rees, J.L.1
-
11
-
-
77951772335
-
Basal cell carcinoma: What's new under the sun
-
Dessinioti, C., C. Antoniou, A. Katsambas, and, A. J. Stratigos, (2010) Basal cell carcinoma: What's new under the sun. Photochem. Photobiol. 86, 481-491.
-
(2010)
Photochem. Photobiol.
, vol.86
, pp. 481-491
-
-
Dessinioti, C.1
Antoniou, C.2
Katsambas, A.3
Stratigos, A.J.4
-
12
-
-
77956301673
-
Genome-wide association studies of pigmentation and skin cancer: A review and meta-analysis
-
Gerstenblith, M. R., J. Shi, and, M. T. Landi, (2010) Genome-wide association studies of pigmentation and skin cancer: A review and meta-analysis. Pigment Cell Melanoma Res. 23, 587-606.
-
(2010)
Pigment Cell Melanoma Res.
, vol.23
, pp. 587-606
-
-
Gerstenblith, M.R.1
Shi, J.2
Landi, M.T.3
-
13
-
-
63149157274
-
Molecular genetics of human pigmentation diversity
-
Sturm, R. A., (2009) Molecular genetics of human pigmentation diversity. Hum. Mol. Genet. 18 (R1), R9-R17.
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.R1
-
-
Sturm, R.A.1
-
14
-
-
33746121511
-
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk Southern European population
-
Stratigos, A. J., G. Dimisianos, V. Nikolaou, M. Poulou, V. Sypsa, I. Stefanaki, O. Papadopoulos, D. Polydorou, M. Plaka, E. Christofidou, H. Gogas, D. Tsoutsos, O. Kastana, C. Antoniou, A. Hatzakis, E. Kanavakis, and, A. D. Katsambas, (2006) Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk Southern European population. J. Invest. Dermatol. 126, 1842-1849.
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 1842-1849
-
-
Stratigos, A.J.1
Dimisianos, G.2
Nikolaou, V.3
Poulou, M.4
Sypsa, V.5
Stefanaki, I.6
Papadopoulos, O.7
Polydorou, D.8
Plaka, M.9
Christofidou, E.10
Gogas, H.11
Tsoutsos, D.12
Kastana, O.13
Antoniou, C.14
Hatzakis, A.15
Kanavakis, E.16
Katsambas, A.D.17
-
15
-
-
0035116287
-
Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma
-
Box, N. F., D. L. Duffy, R. E. Irving, A. Russell, W. Chen, L. R. Griffyths, P. G. Parsons, A. C. Green, and, R. A. Sturm, (2001) Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J. Invest. Dermatol. 116, 224-229.
-
(2001)
J. Invest. Dermatol.
, vol.116
, pp. 224-229
-
-
Box, N.F.1
Duffy, D.L.2
Irving, R.E.3
Russell, A.4
Chen, W.5
Griffyths, L.R.6
Parsons, P.G.7
Green, A.C.8
Sturm, R.A.9
-
16
-
-
66749100686
-
Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients
-
Perez Oliva, A. B., L. P. Femendez, C. De Torre, C. Herráiz, J. A. Martínez-Escribano, J. Benítez, J. A. Lozano Teruel, J. C. García-Borrón, C. Jiménez-Cervantes, and, G. Ribas, (2009) Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients. Hum. Mut. 30, 811-822.
-
(2009)
Hum. Mut.
, vol.30
, pp. 811-822
-
-
Perez Oliva, A.B.1
Femendez, L.P.2
De Torre, C.3
Herráiz, C.4
Martínez-Escribano, J.A.5
Benítez, J.6
Lozano Teruel, J.A.7
García-Borrón, J.C.8
Jiménez-Cervantes, C.9
Ribas, G.10
-
17
-
-
0035068231
-
Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair
-
Leiden Skin Cancer Study Team.
-
Bastiaens, M. T., J. A. ter Huurne, C. Kielich, N. A. Gruis, R. G. Westendorp, B. J. Vermeer, J. N. Bavinck,; Leiden Skin Cancer Study Team (2001) Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am. J. Hum. Genet. 6, 884-894.
-
(2001)
Am. J. Hum. Genet.
, vol.6
, pp. 884-894
-
-
Bastiaens, M.T.1
Ter Huurne, J.A.2
Kielich, C.3
Gruis, N.A.4
Westendorp, R.G.5
Vermeer, B.J.6
Bavinck, J.N.7
-
18
-
-
33645930947
-
Increasing our understanding of pigmentary disorders
-
Grimes, P., J. J. Nordlund, A. G. Pandya, S. Taylor, M. Rendon, and, J. P. Ortonne, (2006) Increasing our understanding of pigmentary disorders. J. Am. Acad. Dermatol. 54, s255-s261.
-
(2006)
J. Am. Acad. Dermatol.
, vol.54
-
-
Grimes, P.1
Nordlund, J.J.2
Pandya, A.G.3
Taylor, S.4
Rendon, M.5
Ortonne, J.P.6
-
20
-
-
69149091245
-
A review of genetic skin hypomelanoses: Lessons learned from the biology of melanocytes
-
Dessinioti, C., A. J. Stratigos, D. Rigopoulos, and, A. Katsambas, (2009) A review of genetic skin hypomelanoses: Lessons learned from the biology of melanocytes. Exp. Dermatol. 18, 741-749.
-
(2009)
Exp. Dermatol.
, vol.18
, pp. 741-749
-
-
Dessinioti, C.1
Stratigos, A.J.2
Rigopoulos, D.3
Katsambas, A.4
-
21
-
-
0026731363
-
Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA
-
Chhajlani, V., and, J. E. S. Wikberg, (1992) Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett. 309, 417-420.
-
(1992)
FEBS Lett.
, vol.309
, pp. 417-420
-
-
Chhajlani, V.1
Wikberg, J.E.S.2
-
22
-
-
0026800892
-
The cloning of a family of genes that encode the melanocortin receptors
-
Mountjoy, K. G., L. S. Robbins, M. T. Mortrud, and, R. D. Cone, (1992) The cloning of a family of genes that encode the melanocortin receptors. Science 257, 1248-1251.
-
(1992)
Science
, vol.257
, pp. 1248-1251
-
-
Mountjoy, K.G.1
Robbins, L.S.2
Mortrud, M.T.3
Cone, R.D.4
-
23
-
-
0029863304
-
Binding capacity and activation of the MC1 receptors by melanotropic hormones correlate directly with their mitogenic and melanogenic effects on human melanocytes
-
Suzuki, I., R. Cone, S. Im, J. Nordlund, and, Z. A. Abdel-Malek, (1996) Binding capacity and activation of the MC1 receptors by melanotropic hormones correlate directly with their mitogenic and melanogenic effects on human melanocytes. Endocrinology 137, 1627-1633.
-
(1996)
Endocrinology
, vol.137
, pp. 1627-1633
-
-
Suzuki, I.1
Cone, R.2
Im, S.3
Nordlund, J.4
Abdel-Malek, Z.A.5
-
24
-
-
25144477342
-
Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans
-
Makova, K., and, H. Norton, (2005) Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans. Peptides 26, 1901-1908.
-
(2005)
Peptides
, vol.26
, pp. 1901-1908
-
-
Makova, K.1
Norton, H.2
-
25
-
-
41949092429
-
Regulation of melanogenesis-controversies and new concepts
-
Schallreuter, K. U., S. Kothari, B. Chavan, and, J. D. Spencer, (2008) Regulation of melanogenesis-controversies and new concepts. Exp. Dermatol. 17, 395-404.
-
(2008)
Exp. Dermatol.
, vol.17
, pp. 395-404
-
-
Schallreuter, K.U.1
Kothari, S.2
Chavan, B.3
Spencer, J.D.4
-
26
-
-
33747331352
-
Melanocortin receptor ligands: New horizons for skin biology and clinical dermatology
-
Böhm, M., T. A. Luger, D. J. Tobin, and, J. C. García- Borrón, (2006) Melanocortin receptor ligands: New horizons for skin biology and clinical dermatology. J. Invest. Dermatol. 126, 1966-1975.
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 1966-1975
-
-
Böhm, M.1
Luger, T.A.2
Tobin, D.J.3
García-Borrón, J.C.4
-
27
-
-
0028786945
-
Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans
-
Valverde, P., E. Healy, I. Jackson, J. L. Rees, and, A. J. Thody, (1995) Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genet. 11, 328-330.
-
(1995)
Nature Genet.
, vol.11
, pp. 328-330
-
-
Valverde, P.1
Healy, E.2
Jackson, I.3
Rees, J.L.4
Thody, A.J.5
-
28
-
-
0031251817
-
Modeling of the three dimensional structure of the human melanocortin 1 receptor, using an automated method and docking of a rigid cyclic melanocyte-stimulating hormone core peptide
-
Prusis, P., H. B. Schioth, R. Moceniece, P. Herzyk, M. Afshar, R. E. Hubbard, and, J. E. Wikberg, (1997) Modeling of the three dimensional structure of the human melanocortin 1 receptor, using an automated method and docking of a rigid cyclic melanocyte-stimulating hormone core peptide. J. Mol. Graph Model 15, 307-317.
-
(1997)
J. Mol. Graph Model
, vol.15
, pp. 307-317
-
-
Prusis, P.1
Schioth, H.B.2
Moceniece, R.3
Herzyk, P.4
Afshar, M.5
Hubbard, R.E.6
Wikberg, J.E.7
-
29
-
-
0030782275
-
Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair
-
Box, N. E., J. R. Wyeth, L. E. O'Gorman, N. G. Martin, and, R. A. Sturm, (1997) Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. Hum. Mol. Genet. 6, 1891-1897.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1891-1897
-
-
Box, N.E.1
Wyeth, J.R.2
O'Gorman, L.E.3
Martin, N.G.4
Sturm, R.A.5
-
30
-
-
0031012096
-
Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects
-
Koppula, S. V., L. S. Robbins, D. Lu, E. Baack, C. R. White Jr, N. A. Swanson, and, R. D. Cone, (1997) Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects. Hum. Mut. 9, 30-36.
-
(1997)
Hum. Mut.
, vol.9
, pp. 30-36
-
-
Koppula, S.V.1
Robbins, L.S.2
Lu, D.3
Baack, E.4
White Jr., C.R.5
Swanson, N.A.6
Cone, R.D.7
-
31
-
-
0035904403
-
Human pigmentation genes identification, structure and consequences of polymorphic variation
-
Sturm, R. A., R. D. Teasdale, and, N. F. Box, (2001) Human pigmentation genes identification, structure and consequences of polymorphic variation. Gene 277, 49-62.
-
(2001)
Gene
, vol.277
, pp. 49-62
-
-
Sturm, R.A.1
Teasdale, R.D.2
Box, N.F.3
-
32
-
-
33644765872
-
Dimerization of the human melanocortin 1 receptor: Functional consequences and dominant-negative effects
-
Sanchez-Laorden, B. L., J. Sanchez-Mas, E. Martinez-Alonso, J. A. Martínez-Menárguez, J. C. García-Borrón, and, C. Jiménez-Cervantes, (2006) Dimerization of the human melanocortin 1 receptor: Functional consequences and dominant-negative effects. J. Invest. Dermatol. 126, 172-181.
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 172-181
-
-
Sanchez-Laorden, B.L.1
Sanchez-Mas, J.2
Martinez-Alonso, E.3
Martínez-Menárguez, J.A.4
García-Borrón, J.C.5
Jiménez-Cervantes, C.6
-
33
-
-
26444449038
-
Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk
-
Beaumont, K. A., R. A. Newton, D. J. Smith, J. H. Leonard, J. L. Stow, and, R. A. Sturm, (2005) Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum. Mol. Genet. 14, 145-154.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 145-154
-
-
Beaumont, K.A.1
Newton, R.A.2
Smith, D.J.3
Leonard, J.H.4
Stow, J.L.5
Sturm, R.A.6
-
34
-
-
0036591966
-
Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation
-
Scott, M. C., K. Wakamatsu, S. Ito, A. L. Kadekaro, N. Kobayashi, J. Groden, R. Kavanagh, T. Takakuwa, V. Virador, V. J. Hearing, and, Z. A. Abdel-Malek, (2002) Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation. J. Cell Sci. 115, 2349-2355.
-
(2002)
J. Cell Sci.
, vol.115
, pp. 2349-2355
-
-
Scott, M.C.1
Wakamatsu, K.2
Ito, S.3
Kadekaro, A.L.4
Kobayashi, N.5
Groden, J.6
Kavanagh, R.7
Takakuwa, T.8
Virador, V.9
Hearing, V.J.10
Abdel-Malek, Z.A.11
-
35
-
-
6344275551
-
Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair
-
Ringholm, A., J. Klovins, R. Rudzzish, S. Phillips, J. L. Rees, and, H. B. Schiöth, (2004) Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair. J. Invest. Dermatol. 123, 917-923.
-
(2004)
J. Invest. Dermatol.
, vol.123
, pp. 917-923
-
-
Ringholm, A.1
Klovins, J.2
Rudzzish, R.3
Phillips, S.4
Rees, J.L.5
Schiöth, H.B.6
-
36
-
-
0030340912
-
Val92Met variant of the melanocyte stimulating hormone receptor gene
-
Xu, X., M. Thornwall, L. G. Laudin, and, V. Chhajlani, (1996) Val92Met variant of the melanocyte stimulating hormone receptor gene. Nat. Genet. 14, 384.
-
(1996)
Nat. Genet.
, vol.14
, pp. 384
-
-
Xu, X.1
Thornwall, M.2
Laudin, L.G.3
Chhajlani, V.4
-
37
-
-
34047270236
-
Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alterations in variant alleles associated with red hair and skin cancer
-
Sanchez-Laorden, B. L., C. Jimenez-Cervantes, and, J. C. Garcia-Borron, (2007) Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alterations in variant alleles associated with red hair and skin cancer. J. Biol. Chem. 282, 3241-3251.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 3241-3251
-
-
Sanchez-Laorden, B.L.1
Jimenez-Cervantes, C.2
Garcia-Borron, J.C.3
-
38
-
-
36148947881
-
Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways
-
Newton, R. A., D. W. Roberts, J. H. Leonard, and, R. A. Sturm, (2007) Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways. Peptides 28, 2387-2396.
-
(2007)
Peptides
, vol.28
, pp. 2387-2396
-
-
Newton, R.A.1
Roberts, D.W.2
Leonard, J.H.3
Sturm, R.A.4
-
39
-
-
7144254441
-
Melanocortin 1 receptor variants in an Irish population
-
Smith, R., E. Healy, S. Siddiqui, N. Flanagan, P. M. Steijlen, I. Rosdahl, J. P. Jacques, S. Rogers, R. Turner, I. J. Jackson, M. A. Birch-Machin, and, J. L. Rees, (1998) Melanocortin 1 receptor variants in an Irish population. J. Invest. Dermatol. 111, 119-122.
-
(1998)
J. Invest. Dermatol.
, vol.111
, pp. 119-122
-
-
Smith, R.1
Healy, E.2
Siddiqui, S.3
Flanagan, N.4
Steijlen, P.M.5
Rosdahl, I.6
Jacques, J.P.7
Rogers, S.8
Turner, R.9
Jackson, I.J.10
Birch-Machin, M.A.11
Rees, J.L.12
-
40
-
-
0034712537
-
Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair
-
Healy, E., N. Flannagan, A. Ray, C. Todd, I. J. Jackson, J. N. Matthews, M. A. Birch-Machin, and, J. L. Rees, (2000) Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair. Lancet 355, 1072-1073.
-
(2000)
Lancet
, vol.355
, pp. 1072-1073
-
-
Healy, E.1
Flannagan, N.2
Ray, A.3
Todd, C.4
Jackson, I.J.5
Matthews, J.N.6
Birch-Machin, M.A.7
Rees, J.L.8
-
41
-
-
0038727493
-
Genetic association and cellular function of MC1R variant alleles in human pigmentation
-
Sturm, R. A., D. L. Duffy, N. F. Box, R. A. Newton, A. G. Shepherd, W. Chen, L. H. Marks, J. H. Leonard, and, N. G. Martin, (2003) Genetic association and cellular function of MC1R variant alleles in human pigmentation. Ann. N Y Acad. Sci. 994, 348-358.
-
(2003)
Ann. N y Acad. Sci.
, vol.994
, pp. 348-358
-
-
Sturm, R.A.1
Duffy, D.L.2
Box, N.F.3
Newton, R.A.4
Shepherd, A.G.5
Chen, W.6
Marks, L.H.7
Leonard, J.H.8
Martin, N.G.9
-
42
-
-
43049148341
-
MC1R variants, melanoma and red hair color phenotype: A meta-analysis
-
Raimondi, S., F. Sera, S. Gandini, S. Iodice, S. Caini, P. Maisonneuve, and, M. C. Fargnoli, (2008) MC1R variants, melanoma and red hair color phenotype: A meta-analysis. Int. J. Cancer 122, 1753-1760.
-
(2008)
Int. J. Cancer
, vol.122
, pp. 1753-1760
-
-
Raimondi, S.1
Sera, F.2
Gandini, S.3
Iodice, S.4
Caini, S.5
Maisonneuve, P.6
Fargnoli, M.C.7
-
43
-
-
34247647905
-
Comprehensive evaluation of allele frequency differences of MC1R variants across populations
-
Gerstenblith, M. R., A. M. Goldstein, M. C. Fargnoli, K. Peris, and, M. T. Landi, (2007) Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum. Mutat. 28, 495-505.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 495-505
-
-
Gerstenblith, M.R.1
Goldstein, A.M.2
Fargnoli, M.C.3
Peris, K.4
Landi, M.T.5
-
44
-
-
0034641860
-
Pleiotropic effects of melanocortin 1 receptor (MC1R) gene on human pigmentation
-
Flanagan, N., E. Healy, A. Ray, S. Philips, C. Todd, I. J. Jackson, M. A. Birch-Machin, and, J. L. Rees, (2000) Pleiotropic effects of melanocortin 1 receptor (MC1R) gene on human pigmentation. Human Mol. Genet. 9, 2531-2537.
-
(2000)
Human Mol. Genet.
, vol.9
, pp. 2531-2537
-
-
Flanagan, N.1
Healy, E.2
Ray, A.3
Philips, S.4
Todd, C.5
Jackson, I.J.6
Birch-Machin, M.A.7
Rees, J.L.8
-
45
-
-
1242307966
-
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes
-
Duffy, D. L., N. F. Box, W. Chen, J. S. Palmer, G. W. Montgomery, M. R. James, N. K. Hayward, A. Green, N. G. Martin, and, R. A. Strum, (2004) Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum. Mol. Gene 13, 447-461.
-
(2004)
Hum. Mol. Gene
, vol.13
, pp. 447-461
-
-
Duffy, D.L.1
Box, N.F.2
Chen, W.3
Palmer, J.S.4
Montgomery, G.W.5
James, M.R.6
Hayward, N.K.7
Green, A.8
Martin, N.G.9
Strum, R.A.10
-
46
-
-
1442332032
-
Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population
-
Fargnoli, M. C., S. Chimenti, G. Keller, H. Hofler, and, K. Peris, (2003) Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population. Hum. Mut. 21, 655.
-
(2003)
Hum. Mut.
, vol.21
, pp. 655
-
-
Fargnoli, M.C.1
Chimenti, S.2
Keller, G.3
Hofler, H.4
Peris, K.5
-
47
-
-
0037336295
-
Quality control in the endoplasmic reticulum
-
Ellgaard, L., and, A. Helenius, (2003) Quality control in the endoplasmic reticulum. Nat. Rev. Mol. Cell Biol. 4, 181-191.
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 181-191
-
-
Ellgaard, L.1
Helenius, A.2
-
48
-
-
0035504443
-
Functional variation of MC1R alleles from red-haired individuals
-
Healy, E., S. A. Jordan, P. S. Budd, R. Suffolk, J. L. Rees, and, I. J. Jackson, (2001) Functional variation of MC1R alleles from red-haired individuals. Hum. Mol. Genet. 10, 2397-2402.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2397-2402
-
-
Healy, E.1
Jordan, S.A.2
Budd, P.S.3
Suffolk, R.4
Rees, J.L.5
Jackson, I.J.6
-
49
-
-
34548385653
-
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles
-
Beaumont, K. A., S. N. Shekar, R. A. Newton, M. R. James, J. L. Stow, D. L. Duffy, and, R. A. Sturm, (2007) Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Hum. Mol. Genet. 16, 2249-2260.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2249-2260
-
-
Beaumont, K.A.1
Shekar, S.N.2
Newton, R.A.3
James, M.R.4
Stow, J.L.5
Duffy, D.L.6
Sturm, R.A.7
-
50
-
-
0027413475
-
Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function
-
Robbins, L. S., J. H. Nadeau, K. R. Johnson, M. A. Kelly, L. Roselli-Rehfuss, E. Baack, K. G. Mountjoy, and, R. D. Cone, (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72, 827-834.
-
(1993)
Cell
, vol.72
, pp. 827-834
-
-
Robbins, L.S.1
Nadeau, J.H.2
Johnson, K.R.3
Kelly, M.A.4
Roselli-Rehfuss, L.5
Baack, E.6
Mountjoy, K.G.7
Cone, R.D.8
-
51
-
-
77957856003
-
Melanocortin 1 receptor genotype: An important determinant of the damage response of melanocytes to ultraviolet radiation
-
Kadekaro, A. L., S. Leachman, R. J. Kavanagh, V. Swope, P. Cassidy, D. Supp, M. Sartor, S. Schwemberger, G. Babcock, K. Wakamatsu, S. Ito, A. Koshoffer, R. E. Boissy, P. Manga, R. A. Sturm, and, Z. A. Abdel-Malek, (2010) Melanocortin 1 receptor genotype: An important determinant of the damage response of melanocytes to ultraviolet radiation. FASEB 24, 3850-3860.
-
(2010)
FASEB
, vol.24
, pp. 3850-3860
-
-
Kadekaro, A.L.1
Leachman, S.2
Kavanagh, R.J.3
Swope, V.4
Cassidy, P.5
Supp, D.6
Sartor, M.7
Schwemberger, S.8
Babcock, G.9
Wakamatsu, K.10
Ito, S.11
Koshoffer, A.12
Boissy, R.E.13
Manga, P.14
Sturm, R.A.15
Abdel-Malek, Z.A.16
-
52
-
-
0344603629
-
Loss-of-function mutations of the human melanocortin 1 receptor are common and are associated with red hair
-
Schioth, H. B., S. R. Phillips, R. Rudzish, M. A. Birch-Machin, J. E. Wikberg, and, J. L. Rees, (1999) Loss-of-function mutations of the human melanocortin 1 receptor are common and are associated with red hair. Biochem. Biophys. Res. Commun. 260, 488-491.
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.260
, pp. 488-491
-
-
Schioth, H.B.1
Phillips, S.R.2
Rudzish, R.3
Birch-Machin, M.A.4
Wikberg, J.E.5
Rees, J.L.6
-
53
-
-
77953604445
-
Vexed by red-headed conundrums
-
Rees, J. L., (2010) Vexed by red-headed conundrums. J. Invest. Dermatol. 130, 1771-1773.
-
(2010)
J. Invest. Dermatol.
, vol.130
, pp. 1771-1773
-
-
Rees, J.L.1
-
54
-
-
77953596353
-
Protection against UVR involves MC1R-mediated nonpigmentary and pigmentary mechanisms in vivo
-
Robinson, S., S. Dixon, S. August, B. Diffey, K. Wakamatsu, S. Ito, P. S. Friedmann, and, E. Healy, (2010) Protection against UVR involves MC1R-mediated nonpigmentary and pigmentary mechanisms in vivo. J. Invest. Dermatol. 130, 1904-1913.
-
(2010)
J. Invest. Dermatol.
, vol.130
, pp. 1904-1913
-
-
Robinson, S.1
Dixon, S.2
August, S.3
Diffey, B.4
Wakamatsu, K.5
Ito, S.6
Friedmann, P.S.7
Healy, E.8
-
55
-
-
20144377250
-
α-melanocortin and endothelin1 activate antiapoptotic pathways and reduce DNA damage in human melanocytes
-
Kadekaro, A. I., R. Kavanagh, H. Kanto, S. Erzieva, J. Hauser, N. Kobayashi, S. Schwemberger, J. Cornelius, G. Babcock, H. G. Shertzer, G. Scott, and, Z. A. Abdel-Malek, (2005) α-melanocortin and endothelin1 activate antiapoptotic pathways and reduce DNA damage in human melanocytes. Cancer Res. 65, 4292-4299.
-
(2005)
Cancer Res.
, vol.65
, pp. 4292-4299
-
-
Kadekaro, A.I.1
Kavanagh, R.2
Kanto, H.3
Erzieva, S.4
Hauser, J.5
Kobayashi, N.6
Schwemberger, S.7
Cornelius, J.8
Babcock, G.9
Shertzer, H.G.10
Scott, G.11
Abdel-Malek, Z.A.12
-
56
-
-
33745757131
-
Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes
-
Hauser, J. E., A. I. Kadekaro, R. J. Kavanagh, K. Wakamatsu, S. Terzieva, S. Schwemberger, G. Babcock, M. B. Rao, S. Ito, and, Z. A. Abdel-Malek, (2006) Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes. Pigment Cell Res. 19, 303-314.
-
(2006)
Pigment Cell Res.
, vol.19
, pp. 303-314
-
-
Hauser, J.E.1
Kadekaro, A.I.2
Kavanagh, R.J.3
Wakamatsu, K.4
Terzieva, S.5
Schwemberger, S.6
Babcock, G.7
Rao, M.B.8
Ito, S.9
Abdel-Malek, Z.A.10
-
57
-
-
33748503917
-
Melanocortin 1 receptor variants and skin cancer risk
-
Han, J., P. Kraft, G. A. Colditz, J. Wong, and, D. J. Hunter, (2006) Melanocortin 1 receptor variants and skin cancer risk. Int. J. Cancer 119, 1976-1984.
-
(2006)
Int. J. Cancer
, vol.119
, pp. 1976-1984
-
-
Han, J.1
Kraft, P.2
Colditz, G.A.3
Wong, J.4
Hunter, D.J.5
-
58
-
-
0346786217
-
Genetics of hair and skin color
-
Rees, J. L., (2003) Genetics of hair and skin color. Annu. Rev. Genet. 37, 67-90.
-
(2003)
Annu. Rev. Genet.
, vol.37
, pp. 67-90
-
-
Rees, J.L.1
-
59
-
-
0033910271
-
Melanocortin-1 receptor polymorphism and risk of melanoma: Is the association explained solely by pigmentation phenotype?
-
Palmer, J. S., D. L. Duffy, N. F. Box, J. F. Aitken, L. E. O'Gorman, A. C. Green, N. K. Hayward, N. G. Martin, and, R. A. Sturm, (2000) Melanocortin-1 receptor polymorphism and risk of melanoma: Is the association explained solely by pigmentation phenotype? Am. J. Hum. Genet. 66, 176-186.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 176-186
-
-
Palmer, J.S.1
Duffy, D.L.2
Box, N.F.3
Aitken, J.F.4
O'Gorman, L.E.5
Green, A.C.6
Hayward, N.K.7
Martin, N.G.8
Sturm, R.A.9
-
60
-
-
0035722059
-
Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and color
-
Kennedy, C., J. ter Huurne, M. Berkhout, N. Gruis, M. Bastiaens, W. Bergman, R. Willemze, and, J. N. Bavinck, (2001) Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and color. J. Invest. Dermatol. 117, 294-300.
-
(2001)
J. Invest. Dermatol.
, vol.117
, pp. 294-300
-
-
Kennedy, C.1
Ter Huurne, J.2
Berkhout, M.3
Gruis, N.4
Bastiaens, M.5
Bergman, W.6
Willemze, R.7
Bavinck, J.N.8
-
61
-
-
1442274588
-
Quantitative measures of the effect of the melanocortin 1 receptor on human pigmentary status
-
Naysmith, L., K. Waterston, T. Ha, Y. Bisset, A. Ray, K. Wakamatsu, S. Ito, and, J. L. Rees, (2004) Quantitative measures of the effect of the melanocortin 1 receptor on human pigmentary status. J. Invest. Dermatol. 122, 423-428.
-
(2004)
J. Invest. Dermatol.
, vol.122
, pp. 423-428
-
-
Naysmith, L.1
Waterston, K.2
Ha, T.3
Bisset, Y.4
Ray, A.5
Wakamatsu, K.6
Ito, S.7
Rees, J.L.8
-
62
-
-
0033610058
-
Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene
-
Moro, O., R. Ideta, and, O. Ifuku, (1999) Characterization of the promoter region of the human melanocortin-1 receptor (MC1R) gene. Biochem. Biophys. Res. 262, 452-460.
-
(1999)
Biochem. Biophys. Res.
, vol.262
, pp. 452-460
-
-
Moro, O.1
Ideta, R.2
Ifuku, O.3
-
63
-
-
0035422250
-
The melanocortin-1 receptor gene is the major freckle gene
-
Bastiaens, M., J. ter Huume, N. Gruis, W. Bergman, R. Westendorp, B. J. Vermeer, and, J. N. Bouwes Bavinck, (2001) The melanocortin-1 receptor gene is the major freckle gene. Hum. Mol. Genet. 10, 1701-1708.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1701-1708
-
-
Bastiaens, M.1
Ter Huume, J.2
Gruis, N.3
Bergman, W.4
Westendorp, R.5
Vermeer, B.J.6
Bouwes Bavinck, J.N.7
-
64
-
-
33947302738
-
Effect of Val92Met and Arg163Glm variants of the MC1R gene on freckles and solar lentigines in Japanese
-
Motokawa, T., T. Kato, Y. Hashimoto, and, T. Katagiri, (2007) Effect of Val92Met and Arg163Glm variants of the MC1R gene on freckles and solar lentigines in Japanese. Pigment Cell Res. 20, 140-143.
-
(2007)
Pigment Cell Res.
, vol.20
, pp. 140-143
-
-
Motokawa, T.1
Kato, T.2
Hashimoto, Y.3
Katagiri, T.4
-
65
-
-
77949510059
-
Functional MC1R-gene variants are associated with increased risk for severe photoaging of facial skin
-
Elfakir, A., K. Ezzedine, J. Latreille, L. Ambroisine, R. Jdid, P. Galan, S. Hercberg, F. Gruber, D. Malvy, E. Tschachler, and, C. Guinot, (2010) Functional MC1R-gene variants are associated with increased risk for severe photoaging of facial skin. J. Invest. Dermatol. 130, 1107-1115.
-
(2010)
J. Invest. Dermatol.
, vol.130
, pp. 1107-1115
-
-
Elfakir, A.1
Ezzedine, K.2
Latreille, J.3
Ambroisine, L.4
Jdid, R.5
Galan, P.6
Hercberg, S.7
Gruber, F.8
Malvy, D.9
Tschachler, E.10
Guinot, C.11
-
66
-
-
36549071998
-
Genetic determinants of hair, eye and skin pigmentation in Europeans
-
Sulem, P., D. F. Gudbjartsson, S. N. Stacey, A. Helgason, T. Rafnar, K. P. Magnusson, A. Manolescu, A. Karason, A. Palsson, G. Thorleifsson, M. Jakobsdottir, S. Steinberg, S. Pálsson, F. Jonasson, B. Sigurgeirsson, K. Thorisdottir, R. Ragnarsson, K. R. Benediktsdottir, K. K. Aben, L. A. Kiemeney, J. H. Olafsson, J. Gulcher, A. Kong, U. Thorsteinsdottir, and, K. Stefansson, (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet. 39, 1443-1452.
-
(2007)
Nat. Genet.
, vol.39
, pp. 1443-1452
-
-
Sulem, P.1
Gudbjartsson, D.F.2
Stacey, S.N.3
Helgason, A.4
Rafnar, T.5
Magnusson, K.P.6
Manolescu, A.7
Karason, A.8
Palsson, A.9
Thorleifsson, G.10
Jakobsdottir, M.11
Steinberg, S.12
Pálsson, S.13
Jonasson, F.14
Sigurgeirsson, B.15
Thorisdottir, K.16
Ragnarsson, R.17
Benediktsdottir, K.R.18
Aben, K.K.19
Kiemeney, L.A.20
Olafsson, J.H.21
Gulcher, J.22
Kong, A.23
Thorsteinsdottir, U.24
Stefansson, K.25
more..
-
67
-
-
0037902558
-
The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes
-
Sturm, R. A., D. L. Duffy, N. F. Box, W. Chen, D. J. Smit, D. L. Brown, J. L. Stow, J. H. Leonard, and, N. G. Martin, (2003) The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res. 16, 266-272.
-
(2003)
Pigment Cell Res.
, vol.16
, pp. 266-272
-
-
Sturm, R.A.1
Duffy, D.L.2
Box, N.F.3
Chen, W.4
Smit, D.J.5
Brown, D.L.6
Stow, J.L.7
Leonard, J.H.8
Martin, N.G.9
-
68
-
-
0032918729
-
High polymorphism at the human melanocortin 1 receptor locus
-
Rana, B. K., D. Hewett-Emmett, L. Jin, B. H. Chang, N. Sambuughin, M. Lin, S. Watkins, M. Bamshad, L. B. Jorde, M. Ramsay, T. Jenkins, and, W. H. Li, (1999) High polymorphism at the human melanocortin 1 receptor locus. Genetics 151, 1547-1557.
-
(1999)
Genetics
, vol.151
, pp. 1547-1557
-
-
Rana, B.K.1
Hewett-Emmett, D.2
Jin, L.3
Chang, B.H.4
Sambuughin, N.5
Lin, M.6
Watkins, S.7
Bamshad, M.8
Jorde, L.B.9
Ramsay, M.10
Jenkins, T.11
Li, W.H.12
-
69
-
-
0033927855
-
Evidence for variable selective pressures at MC1R
-
Harding, R. M., E. Healy, A. J. Ray, N. S. Ellis, N. Flanagan, C. Todd, C. Dixon, A. Sajantila, I. J. Jackson, M. A. Birch-Machin, and, J. L. Rees, (2000) Evidence for variable selective pressures at MC1R. Am. J. Hum. Genet. 66, 1351-1361.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1351-1361
-
-
Harding, R.M.1
Healy, E.2
Ray, A.J.3
Ellis, N.S.4
Flanagan, N.5
Todd, C.6
Dixon, C.7
Sajantila, A.8
Jackson, I.J.9
Birch-Machin, M.A.10
Rees, J.L.11
-
70
-
-
70350503923
-
MC1R gene polymorphism affects skin color and phenotypic features related to sun sensitivity in a population of French adult women
-
Latreille, J., K. Ezzedine, A. Elfakir, L. Ambroisine, S. Gardinier, P. Galan, S. Hercberg, F. Gruber, J. Rees, E. Tschachler, and, C. Guinot, (2009) MC1R gene polymorphism affects skin color and phenotypic features related to sun sensitivity in a population of French adult women. Photochem. Photobiol. 85, 1451-1458.
-
(2009)
Photochem. Photobiol.
, vol.85
, pp. 1451-1458
-
-
Latreille, J.1
Ezzedine, K.2
Elfakir, A.3
Ambroisine, L.4
Gardinier, S.5
Galan, P.6
Hercberg, S.7
Gruber, F.8
Rees, J.9
Tschachler, E.10
Guinot, C.11
-
71
-
-
0032170736
-
Human pigmentation genetics: The difference is only skin deep
-
Sturm, R. A., N. F. Box, and, M. Ramsay, (1998) Human pigmentation genetics: The difference is only skin deep. Bioessays 20, 712-721.
-
(1998)
Bioessays
, vol.20
, pp. 712-721
-
-
Sturm, R.A.1
Box, N.F.2
Ramsay, M.3
|