Article
SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage.
The Journal of investigative dermatology - 1 Jan 2025
Lambert Karoline A, Clements Christopher M, Mukherjee Nabanita, Pacheco Theresa R, Shellman Samantha X, Henen Morkos A, Vögeli Beat, Goldstein Nathaniel B, Birlea Stanca, Hintzsche Jennifer, Caryotakis Griffin, Tan Aik-Choon, Zhao Rui, Norris David A, Robinson William A, Wang Yizhou, VanTreeck Jillian G, Shellman Yiqun G
Abstract excerpt
A better understanding of human melanocyte (MC) and MC stem cell biology is essential for treating MC-related diseases. This study employed an inherited pigmentation disorder carrying the SASH1S519N variant in a Hispanic family to investigate SASH1 function in the MC lineage and the underlying mechanism for this disorder. We used a multidisciplinary approach, including clinical examinations, human cell assays,...
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