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Bibliografia

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Natkunam, Y., Hsi, E. D., Aoun, P., Zhao, S., Elson, P., Pohlman, B., Naushad, H., Bast, M., Levy, R.,
& Lossos, I. S. (2007). Expression of the human germinal center-associated lymphoma (HGAL)
protein identifies a subset of classic Hodgkin lymphoma of germinal center derivation and
improved survival. Blood, 109(1), 298-305.

Sundram, U., Harvell, J. D., Rouse, R. V., & Natkunam, Y. (2003). Expression of the B-cell
proliferation marker MUM1 by melanocytic lesions and comparison with S100, gp100 (HMB45),
and MelanA. Mod Pathol, 16(8), 802-810.

Sulem, P., Gudbjartsson, D.F., Stacey, S.N., Helgason, A., Rafnar, T., Magnusson, K.P., Manolescu,
A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007). Genetic determinants of hair, eye and
skin pigmentation in Europeans. Nat Genet 39, 1443- 1452.

1 Eriksson N, Macpherson JM, Tung JY et al. Web-based, participant-driven studies yield novel
genetic associations for common traits. PLoS Genet 2010; 6: e1000993.

5 Zhang M, Song F, Liang L et al. Genome-wide association studies identify several new loci
associated with pigmentation traits and skin cancer risk in European Americans. Hum Mol Genet
2013; 22: 2948-59.

10 Nan H, Kraft P, Qureshi AA et al. Genome-wide association study of tanning phenotype in a


population of European ancestry. J Invest Dermatol 2009; 129: 2250-7. (b)

11 Liu F, Visser M, Duffy DL et al. Genetics of skin color variation in Europeans: genome-wide
association studies with functional follow-up. Hum Genet 2015.

40 Liu F, Wollstein A, Hysi PG et al. Digital quantification of human eye color highlights genetic
association of three new loci. PLoS Genet 2010; 6: e1000934.

17 Nan H, Xu M, Kraft P et al. Genome-wide association study identifies novel alleles associated
with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum Mol Genet 2011;
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18 Jacobs LC, Liu F, Pardo LM et al. IRF4, MC1R, and TYR genes are risk factors for actinic keratosis
independent of skin color. Hum Mol Genet 2015; 24: 3296-303. (b)

41 Denny JC, Bastarache L, Ritchie MD et al. Systematic comparison of phenome-wide association


study of electronic medical record data and genome-wide association study data. Nat Biotechnol
2013; 31: 1102-10.

42 Han J, Qureshi AA, Nan H et al. A germline variant in the interferon regulatory factor 4 gene as a
novel skin cancer risk locus. Cancer Res 2011; 71: 1533-9
3 Sulem P, Gudbjartsson DF, Stacey SN et al. Two newly identified genetic determinants of
pigmentation in Europeans. Nat Genet 2008; 40: 835-7.

4 Sulem P, Gudbjartsson DF, Stacey SN et al. Genetic determinants of hair, eye and skin
pigmentation in Europeans. Nat Genet 2007; 39: 1443-52.

19 Jacobs LC, Hamer MA, Gunn DA et al. A Genome-Wide Association Study Identifies the Skin
Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots. J Invest Dermatol
2015; 135: 1732-42. (a)

43 Duffy DL, Iles MM, Glass D et al. IRF4 variants have age-specific effects on nevus count and
predispose to melanoma. Am J Hum Genet 2010; 87: 6-16. (a)

44 Gualco G, Weiss LM, Bacchi CE. MUM1/IRF4: A Review. Appl Immunohistochem Mol Morphol
2010; 18: 301-10.

45 Shah PP, Donahue G, Otte GL et al. Lamin B1 depletion in senescent cells triggers large-scale
changes in gene expression and the chromatin landscape. Genes Dev 2013; 27: 1787-99.

46 Do TN, Ucisik-Akkaya E, Davis CF et al. An intronic polymorphism of IRF4 gene


influences gene transcription in vitro and shows a risk association with childhood acute
lymphoblastic leukemia in males. Biochim Biophys Acta 2010; 1802: 292-300

6 Park HY, Kosmadaki M, Yaar M et al. Cellular mechanisms regulating human


melanogenesis. Cell Mol Life Sci 2009; 66: 1493-506.

7 Sturm RA. A golden age of human pigmentation genetics. Trends Genet 2006; 22: 464-8.

8 Praetorius C, Grill C, Stacey SN et al. A Polymorphism in IRF4 Affects Human


Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway. Cell 2013; 155:
1022-33.

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