Evidence map›Paper›PMID 23133399›Full record

ArticlePLoS genetics2012

Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis.

Katherine A Fantauzzo, Mazen Kurban, Brynn Levy, Angela M Christiano

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
4.8field-weighted citation impact, top 5% 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

42 citing papers in PubMed, 69 citations in OpenAlex.

  1. Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.Developmental dynamics : an official publication of the American Association of Anatomists · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Cis-regulatory control of mammalian Trps1 gene expression.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2024
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. TRPS1: A Marker of Follicular Differentiation.Dermatopathology (Basel, Switzerland) · 2023
    Article
  12. Article
  13. A Missense Mutation inAnnals of dermatology · 2022
    Article
  14. Article
  15. Review
  16. Article
  17. Genetic Signatures of Selection for Cashmere Traits in Chinese Goats.Animals : an open access journal from MDPI · 2020
    Article
  18. Article
  19. Article
  20. Article
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

4 authors at 1 institution in 1 country.

Katherine A FantauzzoDepartment of Dermatology, Columbia University, New York, NY, USA.
Mazen Kurban
Brynn Levy
Angela M Christiano
Columbia University · US

Funding

MOLECULAR GENETICS OF THE KERATODERMASR01AR044924 · NIAMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHRISTIANO, ANGELA M · 1998 to 2008
$2.4M
Stem Cells and Cell Lineage SpecificationT32HD055165 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HOBERT, OLIVER · 2007 to 2011
$1.3M
GENETIC MECHANISMS IN SKIN DISEASEST32AR007605 · NIAMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BICKERS, DAVID RINSEY · 1997 to 2010
$1.2M
NIAMS NIH HHS R01 AR044924NIAMS NIH HHS R01AR44924NIAMS NIH HHS T32 AR007605NIAMS NIH HHS T32AR007605NICHD NIH HHS T32 HD055165NICHD NIH HHS T32HD055165
6 · The paper itself

Abstract

Hereditary hypertrichoses are a group of hair overgrowth syndromes that are extremely rare in humans. We have previously demonstrated that a position effect on TRPS1 is associated with hypertrichosis in humans and mice. To gain insight into the functional role of Trps1, we analyzed the late morphogenesis vibrissae phenotype of Trps1(Δgt) mutant mice, which is characterized by follicle degeneration after peg downgrowth has been initiated. We found that Trps1 directly represses expression of the hair follicle stem cell regulator Sox9 to control proliferation of the follicle epithelium. Furthermore, we identified a copy number variation upstream of SOX9 in a family with hypertrichosis that significantly decreases expression of the gene in the hair follicle, providing new insights into the long-range regulation of SOX9. Our findings uncover a novel transcriptional hierarchy that regulates epithelial proliferation in the developing hair follicle and contributes to the pathology of hypertrichosis.

Indexed as

DNA-Binding ProteinsHair FollicleHypertrichosisSOX9 Transcription FactorTranscription FactorsAnimalsCell ProliferationDNA Copy Number VariationsEpithelial CellsGene Expression Regulation, DevelopmentalHumansMiceMorphogenesisMutationRepressor ProteinsDNA-Binding ProteinsRepressor ProteinsSox9 protein, mouseSOX9 Transcription FactorTranscription FactorsTRPS1 protein, human

Identifiers

PMID23133399
PMCPMC3486859
OpenAlexW2087834037

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.