Article
In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells.
Proceedings of the National Academy of Sciences of the United States of America - 21 Jul 2015
Allouche Jennifer, Bellon Nathalia, Saidani Manoubia, Stanchina-Chatrousse Laure, Masson Yolande, Patwardhan Anand, Gilles-Marsens Floriane, Delevoye Cédric, Domingues Sophie, Nissan Xavier, Martinat Cécile, Lemaitre Gilles, Peschanski Marc, Baldeschi Christine
Abstract excerpt
"Café-au-lait" macules (CALMs) and overall skin hyperpigmentation are early hallmarks of neurofibromatosis type 1 (NF1). One of the most frequent monogenic diseases, NF1 has subsequently been characterized with numerous benign Schwann cell-derived tumors. It is well established that neurofibromin, the NF1 gene product, is an antioncogene that down-regulates the RAS oncogene. In contrast, the molecular mechanisms...
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