Evidence map›Paper›PMID 15322542›Full record

ArticleNature genetics2004

Effects of G-protein mutations on skin color.

Catherine D Van Raamsdonk, Karen R Fitch, Helmut Fuchs, Martin Hrabé de Angelis, Gregory S Barsh

Open access · bronzeAbstract read
In one paragraph

Article in Nature genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed
2.4field-weighted citation impact, top 13% of its field
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

75 citing papers in PubMed, 182 citations in OpenAlex.

  1. Article
  2. Article
  3. GαCell communication and signaling : CCS · 2025
    Article
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  5. Transcriptomic Profiling Unveils EDN3Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Article
  6. A Dominant Mutation in GPigment cell & melanoma research · 2025
    Article
  7. Review
  8. Article
  9. Capillary malformations.The Journal of clinical investigation · 2024
    Review
  10. Identification of SNPs inFrontiers in genetics · 2023
    Article
  11. Article
  12. Cancers · 2022
    Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi.Investigative ophthalmology & visual science · 2018
    Article
  20. Article

15 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 2 countries.

Catherine D Van RaamsdonkDepartment of Genetics, Stanford University School of Medicine, Stanford, California 94305-5323, USA.
Karen R Fitch
Helmut Fuchs
Martin Hrabé de Angelis
Gregory S Barsh
Stanford University · USInstitute of Groundwater Ecology · DE

Funding

Genetics of Dark Skin in MiceR01GM068882 · NIGMS · STANFORD UNIVERSITY · PI BARSH, GREGORY STEFAN · 2003 to 2006
$1.2M
NIGMS NIH HHS R01 GM068882
6 · The paper itself

Abstract

A new class of dominant dark skin (Dsk) mutations discovered in a screen of approximately 30,000 mice is caused by increased dermal melanin. We identified three of four such mutations as hypermorphic alleles of Gnaq and Gna11, which encode widely expressed Galphaq subunits, act in an additive and quantitative manner, and require Ednrb. Interactions between Gq and Kit receptor tyrosine kinase signaling can mediate coordinate or independent control of skin and hair color. Our results provide a mechanism that can explain several aspects of human pigmentary variation and show how polymorphism of essential proteins and signaling pathways can affect a single physiologic system.

Indexed as

Mutation, MissenseAnimalsEmbryonic and Fetal DevelopmentGTP-Binding Protein alpha Subunits, Gq-G11MelanocytesMiceMice, Mutant StrainsMolecular Sequence DataSignal TransductionSkin PigmentationGTP-Binding Protein alpha Subunits, Gq-G11

Identifiers

PMID15322542
PMCPMC7341985
OpenAlexW2140514427

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.