Evidence map›Paper›PMID 17475918›Full record

ArticleJournal of medical genetics2007

FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.

Kim Debacker, Birgitta Winnepenninckx, Neta Ben-Porat, David FitzPatrick, Rob Van Luijk, Stefaan Scheers, Batsheva Kerem, R Frank Kooy

Abstract readLetter
In one paragraph

Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.1field-weighted citation impact, top 20% 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

10 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites.Advances in experimental medicine and biology · 2017
    Review
  5. Article
  6. Review
  7. Review
  8. Review
  9. Article
  10. 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

8 authors at 3 institutions in 3 countries.

Kim Debacker
Birgitta Winnepenninckx
Neta Ben-Porat
David FitzPatrick
Rob Van Luijk
Stefaan Scheers
Batsheva Kerem
R Frank Kooy
University of Antwerp · BEHebrew University of Jerusalem · ILEdinburgh Cancer Research · GB

Funding

Medical Research Council MC_U127561093
6 · The paper itself

Abstract

Fragile sites are specific genomic loci that form gaps, constrictions and breaks on chromosomes exposed to replication stress conditions. In the father of a patient with Beckwith-Wiedemann syndrome and a pure truncation of 18q22-qter, a new aphidicolin-sensitive fragile site on chromosome 18q22.2 (FRA18C) is described. The region in 18q22 appears highly enriched in flexibility islands previously found to be the characteristic of common fragile site regions. The breakpoint was cloned in this patient. The break disrupts the DOK6 gene and was immediately followed by a repetitive telomere motif, (TTAGGG)(n). Using fluorescent in situ hybridisation, the breakpoint in the daughter was found to coincide with the fragile site in the father. The breakpoint region was highly enriched in AT-rich sequences. It is the first report of an aphidicolin-sensitive fragile site that coincides with an in vivo chromosome truncation in the progeny.

Indexed as

AphidicolinBase SequenceChildChromosome BreakageChromosome DeletionChromosome Fragile SitesChromosomes, Human, Pair 18Cloning, MolecularDNA Mutational AnalysisFathersFemaleHumansMolecular Sequence DataPedigreeRepetitive Sequences, Nucleic AcidAphidicolin

Identifiers

PMID17475918
PMCPMC2597991
OpenAlexW2104430224

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.