Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project

Tagliabue, E; Gandini, S; Maisonneuve, P; Raimondi, S; Garcia-Borron, Jc; Newton-Bishop, J; Polsky, D; Lazovich, D; Kumar, R; Ghiorzo, P; Ferrucci, L; Gruis, Na; Puig, S; Kanetsky, Pa; Motokawa, T; Ribas, G; Landi, Mt; Fargnoli, Mc; Wong, Th; Stratigos, A; Helsing, P; Guida, G; Autier, P; Han, J; Little, J; Sera, F; Raimondi, S; Autier, P; Fargnoli, Mc; Garcia-Borron, Jc; Han, J; Kanetsky, Pa; Landi, Mt; Little, J; Newton-Bishop, J; Sera, S; Caini, S; Gandini, S; Maisonneuve, P; Hofman, A; Kayser, M; Liu, F; Nijsten, T; Uitterlinden, Ag; Kumar, R; Scherer, D; Bishop, T; Newton-Bishop, J; Elliott, F; Nagore, E; Lazovich, D; Polsky, D; Hansson, J; Hoiom, V; Ghiorzo, P; Pastorino, L; Gruis, Na; Bouwes Bavinck JN,; Aguilera, P; Badenas, C; Carrera, C; Gimenez-Xavier, P; Malvehy, J; Potrony, M; Puig, S; Puig-Butille J., A; Tell-Marti, G; Dwyer, T; Blizzard, L; Cochrane, J; Fernandez-de-Misa, R; Branicki, W; Debniak, T; Morling, N; Johansen, P; Mayne, S; Bale, A; Cartmel, B; Ferrucci, L; Pfeiffer, R; Palmieri, G; Ribas, G; Menin, C; Stratigos, A; Kypreou, K; Bowcock, A; Cornelius, L; Council, Ml; Motokawa, T; Anno, S; Helsing, P; Andresen, Pa; Guida, G; Guida, S; Wong, Th

doi:10.1016/j.jid.2016.05.099

Skin pigmentation is due to the accu-mulation of eumelanin, which is brown-black pigment and photo- protective, and pheomelanin, which is yellow-red pigment and may promote carcinogenesis (Valverde et al., 1995). The melanocortin-1 receptor (MC1R) gene regulates the amount and type of pigment production and is a major determinant of skin prototype. Binding of a-melanocyte stimulating hormone to MC1R stimulates the enzymatic activity of adenylate cyclase enzyme, thereby elevating intracellular cyclic adenosine monophosphate (cAMP) levels. MC1R is highly polymorphic, especially in Caucasians: more than 200 coding region variants have been described to date

Scheda prodotto non validato

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Titolo:	Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project
Autori:	Tagliabue E Gandini S Maisonneuve P Raimondi S Garcia-Borron JC Newton-Bishop J Polsky D Lazovich D Kumar R Ghiorzo P Ferrucci L Gruis NA Puig S Kanetsky PA Motokawa T Ribas G Landi MT Fargnoli MC Wong TH Stratigos A Helsing P Guida G Autier P Han J Little J Sera F Raimondi S Autier P Fargnoli MC Garcia-Borron JC Han J Kanetsky PA Landi MT Little J Newton-Bishop J Sera S Caini S Gandini S Maisonneuve P Hofman A Kayser M Liu F Nijsten T Uitterlinden AG Kumar R Scherer D Bishop T Newton-Bishop J Elliott F Nagore E Lazovich D Polsky D Hansson J Hoiom V Ghiorzo P Pastorino L Gruis NA Bouwes Bavinck JN Aguilera P Badenas C Carrera C Gimenez-Xavier P Malvehy J Potrony M Puig S Puig-Butille J.A Tell-Marti G Dwyer T Blizzard L Cochrane J Fernandez-de-Misa R Branicki W Debniak T Morling N Johansen P Mayne S Bale A Cartmel B Ferrucci L Pfeiffer R PALMIERI, Giuseppe [Investigation] Ribas G Menin C Stratigos A Kypreou K Bowcock A Cornelius L Council ML Motokawa T Anno S Helsing P Andresen PA Guida G Guida S Wong TH mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2016
Rivista:	JOURNAL OF INVESTIGATIVE DERMATOLOGY
Handle:	http://hdl.handle.net/11388/244813
Appare nelle tipologie:	1.1 Articolo in rivista

File in questo prodotto:

Non ci sono file associati a questo prodotto.

Utilizza questo identificativo per citare o creare un link a questo documento:
http://hdl.handle.net/11388/244813

Citazioni

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

CINECA IRIS Institutional Research Information System

Scheda prodotto non validato

File in questo prodotto: