Stefania Guida, Susana Puig, Chiara DI Resta, Fabio Sallustio, Eleonora Mangano, Giorgio Stabile, Caterina Longo, Giovanni Pellacani, Gabriella Guida, Franco Rongioletti
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引用次数: 0
摘要
黑色素皮质素-1 受体(MC1R)及其变体在黑色素合成中起着关键作用。不过,MC1R 也与 DNA 修复活动和炎症相关的非色素途径有关。本综述旨在提供有关 MC1R 在皮肤中作用的最新概述。具体来说,在总结了目前有关 MC1R 结构和多态性的知识后,我们报告了有关 MC1R、表型特征、皮肤老化、其他疾病和皮肤癌之间的相关性数据,以及通过基因检测对其进行风险评估的数据。
Melanocortin-1 receptor (MC1R): a review for dermatologists.
Melanocortin-1 receptor (MC1R) and its variants have a pivotal role in melanin synthesis. However, MC1R has been associated to non-pigmentary pathways related to DNA-repair activities and inflammation. The aim of this review is to provide an up-to-date overview about the role of MC1R in the skin. Specifically, after summarizing the current knowledge about MC1R structure and polymorphisms, we report data concerning the correlation between MC1R, phenotypic traits, skin aging, other diseases and skin cancers and their risk assessment through genetic testing.