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

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Title: SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage.
Authors: 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.
Source: The Journal of investigative dermatology [J Invest Dermatol] 2025 Jan; Vol. 145 (1), pp. 144-154.e3. Date of Electronic Publication: 2024 Jun 06.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1747 (Electronic) Linking ISSN: 0022202X NLM ISO Abbreviation: J Invest Dermatol Subsets: MEDLINE
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  Data: SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage.
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  Data: <searchLink fieldCode="AU" term="%22Lambert+KA%22">Lambert KA</searchLink>; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Clements+CM%22">Clements CM</searchLink>; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Mukherjee+N%22">Mukherjee N</searchLink>; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Pacheco+TR%22">Pacheco TR</searchLink>; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Shellman+SX%22">Shellman SX</searchLink>; Department of Computer Science, University of Colorado Boulder, Boulder, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Henen+MA%22">Henen MA</searchLink>; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Vögeli+B%22">Vögeli B</searchLink>; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Goldstein+NB%22">Goldstein NB</searchLink>; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Birlea+S%22">Birlea S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hintzsche+J%22">Hintzsche J</searchLink>; Next Level Bioinformatics LLC, Dixon, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Caryotakis+G%22">Caryotakis G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tan+AC%22">Tan AC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zhao+R%22">Zhao R</searchLink>; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Norris+DA%22">Norris DA</searchLink>; Department of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Robinson+WA%22">Robinson WA</searchLink>; Division of Medical Oncology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Department of Chemistry, College of Arts and Sciences, Emory University, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22VanTreeck+JG%22">VanTreeck JG</searchLink>; College of Biological Sciences, University of Minnesota, Twin Cities, St. Paul, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Shellman+YG%22">Shellman YG</searchLink>; 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.
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