Evidence map›Paper›PMID 29730428›Full record

ReviewGene2018

The expression and function of PAX3 in development and disease.

Salah Boudjadi, Bishwanath Chatterjee, Wenyue Sun, Prasantha Vemu, Frederic G Barr

Abstract readReview
In one paragraph

Review in Gene, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 1 pooled it
7.0field-weighted citation impact, top 2% 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

63 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Genetic architecture of craniofacial morphogenesis: roles ofFrontiers in cell and developmental biology · 2026
    Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Review
  17. A novel frameshift variant ofFrontiers in genetics · 2025
    Article
  18. Article
  19. Article
  20. Review

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

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

5 authors at 1 institution in 1 country.

Salah BoudjadiLaboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.
Bishwanath ChatterjeeLaboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.
Wenyue SunLaboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.
Prasantha VemuLaboratory of Pathology, National Cancer Institute, Bethesda, MD, USA.
Frederic G BarrLaboratory of Pathology, National Cancer Institute, Bethesda, MD, USA. Electronic address: barrfg@mail.nih.gov.
National Cancer Institute · US

Funding

Studies of gene fusions in rhabdomyosarcomaZIABC011387 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI BARR, FREDERIC · 2011 to 2025
$9.1M
Epigenetic studies in rhabdomyosarcomaZIABC011423 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI BARR, FREDERIC · 2012 to 2025
$7.1M
The Gene Wiki: Community intelligence applied to gene annotationR01GM089820 · NIGMS · SCRIPPS RESEARCH INSTITUTE, THE · PI SU, ANDREW I · 2010 to 2021
$5.2M
Intramural NIH HHS Z99 CA999999NIGMS NIH HHS R01 GM089820
6 · The paper itself

Abstract

The PAX3 gene encodes a member of the PAX family of transcription factors that is characterized by a highly conserved paired box motif. The PAX3 protein is a transcription factor consisting of an N-terminal DNA binding domain (containing a paired box and homeodomain) and a C-terminal transcriptional activation domain. This protein is expressed during development of skeletal muscle, central nervous system and neural crest derivatives, and regulates expression of target genes that impact on proliferation, survival, differentiation and motility in these lineages. Germline mutations of the murine Pax3 and human PAX3 genes cause deficiencies in these developmental lineages and result in the Splotch phenotype and Waardenburg syndrome, respectively. Somatic genetic rearrangements that juxtapose the PAX3 DNA binding domain to the transcriptional activation domain of other transcription factors deregulate PAX3 function and contribute to the pathogenesis of the soft tissue cancers alveolar rhabdomyosarcoma and biphenotypic sinonasal sarcoma. The wild-type PAX3 protein is also expressed in other cancers related to developmental lineages that normally express this protein and exerts phenotypic effects related to its normal developmental role.

Indexed as

AnimalsGene ExpressionGene Expression Regulation, DevelopmentalGene Expression Regulation, NeoplasticHumansMutationPAX3 Transcription FactorSarcomaWaardenburg SyndromePAX3 protein, humanPAX3 Transcription FactorAlternative splicingCentral nervous system developmentFusion oncoproteinHomeodomainMelanocyteMelanomaNeural crestPaired boxRhabdomyosarcomaSkeletal muscle developmentSoft tissue sarcomaSplotchTarget geneTranscription factorWaardenburg syndrome

Identifiers

PMID29730428
PMCPMC6624083
OpenAlexW2800331334

What OpenQuestion 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 OpenQuestion graph.