Evidence map›Paper›PMID 16773576›Full record

ArticleAmerican journal of human genetics2006

Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly.

N A Oates, J van Vliet, D L Duffy, H Y Kroes, N G Martin, D I Boomsma, M Campbell, M G Coulthard, E Whitelaw, S Chong

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
10.5field-weighted citation impact, top 1% 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

46 citing papers in PubMed, 135 citations in OpenAlex.

  1. Article
  2. Review
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  5. Article
  6. Article
  7. Association betweenDisease markers · 2019
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  9. Wnt signaling in cervical cancer?Journal of Cancer · 2018
    Review
  10. Review
  11. Article
  12. An extremely rare case of classic complete caudal duplication: Dipygus.Journal of Indian Association of Pediatric Surgeons · 2014
    Article
  13. Article
  14. Review
  15. The use of mouse models to study epigenetics.Cold Spring Harbor perspectives in biology · 2013
    Review
  16. Article
  17. Abnormal hypermethylation and clinicopathological significance of Axin gene in lung cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2013
    Article
  18. Review
  19. Article
  20. Review
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 5 institutions in 2 countries.

N A OatesSchool of Molecular and Microbial Biosciences, University of Sydney, Australia.
J van Vliet
D L Duffy
H Y Kroes
N G Martin
D I Boomsma
M Campbell
M G Coulthard
E Whitelaw
S Chong
QIMR Berghofer Medical Research Institute · AUThe University of Sydney · AURoyal Children's Hospital · AUUniversity Medical Center Utrecht · NLUniversity of Amsterdam · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The AXIN1 gene has been implicated in caudal duplication anomalies. Its coding region was sequenced in both members of a monozygotic (MZ) twin pair discordant for a caudal duplication anomaly, but no mutation was found. Using bisulfite sequencing, we examined methylation at the promoter region of the AXIN1 gene in these twins and in twin and age-matched singleton controls. Methylation of the promoter region in peripheral blood mononucleated cells was variable among individuals, including MZ pairs. In the MZ pair discordant for the caudal duplication, this region of the affected twin was significantly more methylated than that of the unaffected twin (P < .0001), which was significantly more methylated than those of the controls (P = .02). We have confirmed that this CpG island does function as a promoter in vitro and that its activity is inversely proportional to the extent of methylation. This finding raises the possibility that hypermethylation of the AXIN1 promoter, by mechanisms as yet undetermined, is associated with the malformation. This case may be paradigmatic for some cases of MZ discordance.

Indexed as

DNA MethylationTwins, MonozygoticAxin ProteinBase SequenceCauda EquinaCell LineCpG IslandsDNA PrimersHumansPromoter Regions, GeneticRepressor ProteinsAXIN1 protein, humanAxin ProteinDNA PrimersRepressor Proteins

Identifiers

PMID16773576
PMCPMC1474116
OpenAlexW2099907183

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.