Identification and functional characterization of natural human melanocortin 1 receptor (MC1R) mutant alleles in Pakistani population

Melanocortin 1 receptor (MC1R), a Gs protein-coupled receptor of the melanocyte’s plasma membrane, is a major determinant of skin pigmentation and phototype. Upon activation by α-melanocyte stimulating hormone, MC1R triggers the cAMP cascade to stimulate eumelanogenesis. We used whole exome sequenci...

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Detalhes bibliográficos
Publicado no:Pigment Cell Melanoma Res
Main Authors: Shahzad, Mohsin, Sires Campos, Julia, Tariq, Nabeela, Herraiz Serrano, Cecilia, Yousaf, Rizwan, Jiménez-Cervantes, Celia, Yousaf, Sairah, Waryah, Yar M., Dad, Haseeb A., Blue, Elizabeth M., Sobreira, Nara, López-Giráldez, Francesc, Kausar, Tasleem, Ali, Muhammad, Waryah, Ali M., Riazuddin, Saima, Shaikh, Rehan S., García-Borrón, José Carlos, Ahmed, Zubair M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4609612/
https://ncbi.nlm.nih.gov/pubmed/26197705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pcmr.12400
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