Article
In vitro behavior and UV response of melanocytes derived from carriers of CDKN2A mutations and MC1R variants.
Pigment cell & melanoma research - 1 Mar 2019
Hernando Barbara, Swope Viki B, Guard Steven, Starner Renny J, Choi Kevin, Anwar Ayesha, Cassidy Pamela, Leachman Sancy, Kadekaro Ana Luisa, Bennett Dorothy C, Abdel-Malek Zalfa A
Abstract excerpt
Coinheritance of germline mutation in cyclin-dependent kinase inhibitor 2A (CDKN2A) and loss-of-function (LOF) melanocortin 1 receptor (MC1R) variants is clinically associated with exaggerated risk for melanoma. To understand the combined impact of these mutations, we established and tested primary human melanocyte cultures from different CDKN2A mutation carriers, expressing either wild-type MC1R or MC1RLOF...
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