Evidence map›Paper›PMID 12700669›Full record

ArticleOncogene2003

Screening for gene mutations in a 500 kb neuroblastoma tumor suppressor candidate region in chromosome 1p; mutation and stage-specific expression in UBE4B/UFD2.

Cecilia Krona, Katarina Ejeskär, Frida Abel, Per Kogner, Jill Bjelke, Elin Björk, Rose-Marie Sjöberg, Tommy Martinsson

Abstract readComparative Study
PubMed Publisher
In one paragraph

Article in Oncogene, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
3.3field-weighted citation impact, top 8% 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

25 citing papers in PubMed, 53 citations in OpenAlex.

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  13. The Cdc48 ATPase modulates the interaction between two proteolytic factors Ufd2 and Rad23.Proceedings of the National Academy of Sciences of the United States of America · 2011
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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

8 authors at 3 institutions in 2 countries.

Cecilia KronaDepartment of Clinical Genetics Institute for the Health of Women and Children, Göteborg University, Sahlgrenska University Hospital-East, Göteborg, Sweden.
Katarina Ejeskär
Frida Abel
Per Kogner
Jill Bjelke
Elin Björk
Rose-Marie Sjöberg
Tommy Martinsson
Sahlgrenska University Hospital · SEKarolinska Institutet · SERoyal Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Deletion of a part of the short arm of chromosome 1 is one of the most common chromosomal rearrangements observed in neuroblastoma (NBL) tumors and it is associated with a poor prognosis. No NBL tumor suppressor gene has yet been identified in the region. Our shortest region of overlap of deletions, ranging from marker D1S80 to D1S244, was shown to partly overlap a 500 kb region that was homozygously deleted in a NBL cell line. We have screened seven genes known to reside in or very close to this overlap consensus region, UBE4B/UFD2, KIF1B, DFFA, PGD, CORT, PEX14, and ICAT, for coding mutations in NBL tumor DNA. A few deviations from the reference sequences were identified; most interestingly being a splice site mutation that was detected in UBE4B/UFD2 in a stage 3 NBL with a fatal outcome. This mutation was neither present in the patients constitutional DNA nor in any of 192 control chromosomes analysed. Also, the expression of UBE4B/UFD2 was markedly diminished in the high-stage/poor-outcome tumors as compared to the low-stage/favorable-outcome tumors. Overall, the number of amino-acid changes in the genes of the region was low, which shows that mutations in these genes are rare events in NBL development. Given the data presented here, UBE4B/UFD2 stands out as the strongest candidate NBL tumor suppressor gene in the region at this stage.

Indexed as

Genes, Tumor SuppressorMutationAmino Acid SubstitutionChromosomes, Human, Pair 1Cysteine EndopeptidasesDNA Mutational AnalysisDNA, NeoplasmGene DeletionGene Expression ProfilingGene Expression Regulation, NeoplasticHumansLoss of HeterozygosityMultienzyme ComplexesNeoplasm ProteinsNeoplasm StagingNeuroblastomaCysteine EndopeptidasesDNA, NeoplasmMultienzyme ComplexesNeoplasm ProteinsProteasome Endopeptidase ComplexRNA Splice SitesTumor Suppressor ProteinsUBE4B protein, humanUbiquitinUbiquitin-Protein Ligase ComplexesUbiquitin-Protein Ligases

Identifiers

PMID12700669
OpenAlexW2092204339

What OpenQuestion holds

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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.