Novel loss-of-function variant in DENND5Aimpedes melanosomal cargo transport and predisposes to familial cutaneous melanoma

Autor: Yang, Muyi, Johnsson, Per, Bräutigam, Lars, Yang, Xiaohong R., Thrane, Kim, Gao, Jiwei, Tobin, Nicholas P., Zhou, Yitian, Yu, Rong, Nagy, Noemi, Engström, Pär G., Tuominen, Rainer, Eriksson, Hanna, Lundeberg, Joakim, Tucker, Margaret A., Goldstein, Alisa M., Egyhazi-Brage, Suzanne, Zhao, Jian, Cao, Yihai, Höiom, Veronica
Zdroj: Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p157-169, 13p
Abstrakt: More than half of the familial cutaneous melanomas have unknown genetic predisposition. This study aims at characterizing a novel melanoma susceptibility gene.
Databáze: Supplemental Index