SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage

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 mecha...

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Veröffentlicht in:	Journal of investigative dermatology 2025-01, Vol.145 (1), p.144-154.e3
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aging Cell Lineage Female Hair Color - genetics Human melanocyte stem cell maintenance Humans Hyperpigmentation - genetics Hyperpigmentation - metabolism Hyperpigmentation - pathology Lentigines Male Melanocytes - metabolism Melanocytes - pathology Pedigree Phenotype Tankyrase 2 Tankyrase-binding motif Tumor Suppressor Proteins - genetics Tumor Suppressor Proteins - metabolism
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