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

Autor: Lambert KA; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Clements CM; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Mukherjee N; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Pacheco TR; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Shellman SX; Department of Computer Science, University of Colorado Boulder, Boulder, Colorado, USA., Henen MA; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Vögeli B; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Goldstein NB; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Birlea S; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA; Gates Institute, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Hintzsche J; Next Level Bioinformatics LLC, Dixon, Illinois, USA., Caryotakis G; Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA; Department of Biomedical Informatics, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA., Tan AC; Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA; Department of Biomedical Informatics, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA., Zhao R; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Norris DA; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Robinson WA; Division of Medical Oncology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA., Wang Y; Department of Chemistry, College of Arts and Sciences, Emory University, Atlanta, Georgia, USA., VanTreeck JG; College of Biological Sciences, University of Minnesota, Twin Cities, St. Paul, Minnesota, USA., Shellman YG; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA; Gates Institute, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA. Electronic address: Yiqun.Shellman@cuanschutz.edu.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2025 Jan; Vol. 145 (1), pp. 144-154.e3. Date of Electronic Publication: 2024 Jun 06.