Evidence map›Paper›PMID 24658000›Full record

ArticleNature genetics2014

GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.

Karolin H Nord, Henrik Lilljebjörn, Francesco Vezzi, Jenny Nilsson, Linda Magnusson, Johnbosco Tayebwa, Danielle de Jong, Judith V M G Bovée, Pancras C W Hogendoorn, Karoly Szuhai

Open access · greenAbstract read
PubMed Publisher
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
6.9field-weighted citation impact, top 3% 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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 97 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. H3F3B gene mutation in chondroblastomas: a multicenter study.Acta orthopaedica et traumatologica turcica · 2026
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Chondromyxoid Fibroma of Phalanges.Sultan Qaboos University medical journal · 2025
    Article
  12. International journal of surgical pathology · 2024
    Article
  13. Article
  14. Review
  15. Article
  16. ACell reports. Medicine · 2023
    Article
  17. Review
  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

10 authors at 4 institutions in 2 countries.

Karolin H NordDepartment of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
Henrik LilljebjörnDepartment of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
Francesco VezziScience for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, Solna, Sweden.
Jenny NilssonDepartment of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
Linda MagnussonDepartment of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
Johnbosco TayebwaDepartment of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
Danielle de JongDepartment of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands.
Judith V M G BovéeDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Pancras C W HogendoornDepartment of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Karoly SzuhaiDepartment of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands.
Leiden University Medical Center · NLSkåne University Hospital · SELund University · SEScience for Life Laboratory · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glutamate receptors are well-known actors in the central and peripheral nervous systems, and altered glutamate signaling is implicated in several neurological and psychiatric disorders. It is increasingly recognized that such receptors may also have a role in tumor growth. Here we provide direct evidence of aberrant glutamate signaling in the development of a locally aggressive bone tumor, chondromyxoid fibroma (CMF). We subjected a series of CMFs to whole-genome mate-pair sequencing and RNA sequencing and found that the glutamate receptor gene GRM1 recombines with several partner genes through promoter swapping and gene fusion events. The GRM1 coding region remains intact, and 18 of 20 CMFs (90%) showed a more than 100-fold and up to 1,400-fold increase in GRM1 expression levels compared to control tissues. Our findings unequivocally demonstrate that direct targeting of GRM1 is a necessary and highly specific driver event for CMF development.

Indexed as

Base SequenceBone NeoplasmsChromosome BandingDNA Copy Number VariationsFibromaGene Expression Regulation, NeoplasticGene FusionHumansIn Situ Hybridization, FluorescenceMolecular Sequence DataNetherlandsPromoter Regions, GeneticReal-Time Polymerase Chain ReactionReceptors, Metabotropic GlutamateReverse Transcriptase Polymerase Chain ReactionSequence Analysis, RNAReceptors, Metabotropic Glutamate

Identifiers

PMID24658000
OpenAlexW2019845973

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.