Evidence map›Paper›PMID 38848986›Full record

ArticleThe Journal of investigative dermatology2025

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

Karoline A Lambert, Christopher M Clements, Nabanita Mukherjee, Theresa R Pacheco, Samantha X Shellman, Morkos A Henen, Beat Vögeli, Nathaniel B Goldstein, Stanca Birlea, Jennifer Hintzsche and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of investigative dermatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Karoline A LambertDepartment of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
Christopher M ClementsDepartment of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
Nabanita MukherjeeDepartment of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
Theresa R PachecoDepartment of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
Samantha X ShellmanDepartment of Computer Science, University of Colorado Boulder, Boulder, Colorado, USA.
Morkos A HenenDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
Beat VögeliDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
Nathaniel B GoldsteinDepartment of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
Stanca BirleaDepartment 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.
Jennifer HintzscheNext Level Bioinformatics LLC, Dixon, Illinois, USA.
Griffin CaryotakisDepartment 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.
Aik-Choon TanDepartment 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.
Rui ZhaoDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
David A NorrisDepartment of Dermatology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
William A RobinsonDivision of Medical Oncology, University of Colorado Anschutz Medical Campus, School of Medicine, Aurora, Colorado, USA.
Yizhou WangDepartment of Chemistry, College of Arts and Sciences, Emory University, Atlanta, Georgia, USA.
Jillian G VanTreeckCollege of Biological Sciences, University of Minnesota, Twin Cities, St. Paul, Minnesota, USA.
Yiqun G ShellmanDepartment 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.

Funding

University of Colorado Cancer Center Support Grant - Lung Cancer Patient-Derived Xenografts with Autologous Human Immune SystemsP30CA046934 · NCI · UNIVERSITY OF COLORADO DENVER · PI James V Degregori · 1988 to 2026
$117.0M
Transgenic and Gene Targeting CoreP30AR057212 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI HOGAN, CHRISTOPHER J · 2009 to 2018
$6.2M
The molecular mechanism of pre-mRNA splicingR35GM145289 · NIGMS · UNIVERSITY OF COLORADO DENVER · PI RUI ZHAO · 2022 to 2026
$4.3M
Study of melanocyte lineage through SASH1 and associated proteinsR01AR074420 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI SHELLMAN, YIQUN G · 2020 to 2024
$2.2M
Cancer Research Experiences for Undergraduates (CREU)R25CA240122 · NCI · UNIVERSITY OF COLORADO DENVER · PI SCHWEPPE, REBECCA ELIZABETH · 2019 to 2024
$1.6M
Dynein-adaptor interaction mechanisms and malfunction at atomic resolutionR01GM130694 · NIGMS · UNIVERSITY OF COLORADO DENVER · PI VOGELI, BEAT ROLF · 2019 to 2022
$1.3M
600 MHz NMR console and cold probeS10OD025020 · OD · UNIVERSITY OF COLORADO DENVER · PI JONES, DAVID NIGEL · 2018 to 2018
$501k
Small molecule inhibitors targeting the SARS-CoV-2 pathogenicity factor Nsp1R21AI171827 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HENEN, MORKOS, STECKELBERG, ANNA-LENA · 2022 to 2023
$458k
The role of SASH1 in skin pigmentationR03AR064555 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI SHELLMAN, YIQUN G · 2014 to 2016
$233k
NCI NIH HHS P30 CA046934NCI NIH HHS R25 CA240122NIAID NIH HHS R21 AI171827NIAMS NIH HHS P30 AR057212NIAMS NIH HHS R01 AR074420NIAMS NIH HHS R03 AR064555NIGMS NIH HHS R01 GM130694NIGMS NIH HHS R35 GM145289NIH HHS S10 OD025020
6 · The paper itself

Abstract

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 SASH1

Indexed as

Hair ColorHyperpigmentationMelanocytesAdultCell LineageFemaleHumansMalePedigreePhenotypeTumor Suppressor ProteinsSASH1 protein, humanTumor Suppressor ProteinsAgingHuman melanocyte stem cell maintenanceLentiginesTankyrase 2Tankyrase-binding motif

Identifiers

PMID38848986
PMCPMC11621233

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.