ArticleHuman genetics1996
The enigma of common fragile sites.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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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.
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.
Who cites it
8 citing papers in PubMed, 39 citations in OpenAlex.
- A Unifying Hypothesis for the Genome Dynamics Proposed to Underlie Neuropsychiatric Phenotypes.Genes · 2024Review
- First molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease.Molecular cytogenetics · 2016Article
- Common fragile sites are conserved features of human and mouse chromosomes and relate to large active genes.Genome research · 2006Article
- Molecular basis for expression of common and rare fragile sites.Molecular and cellular biology · 2003Article
- Chromosome 2 (2p16) abnormalities in Carney complex tumours.Journal of medical genetics · 2003Article
- Article
- Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.Journal of medical genetics · 2000Article
- Identification of three distinct regions of allelic deletions on the short arm of chromosome 8 in hepatocellular carcinoma.Oncogene · 1999Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
One hundred and fifty breakpoint sites were recorded during an analysis of aphidicolin-ethanol inducible fragile sites (FS) in 56 blood samples and 13 amniocyte cultures and were classified according to the criteria formulated by the Chromosome Coordinating Meeting. The finding of previously unlisted FS in this sample, the altered expression of FS in conditions not usually associated with chromosomal abnormalities and the apparent lack of tissue specificity indicate the importance of one or more fundamental mechanisms operating to produce the diverse associated clinical phenotypes, with the chromosomal fragility representing an intermediate phenotype. Several lines of evidence converge towards the conclusion that FS are a manifestation of an altered state of genetic activity at areas associated with transcriptional regulation, because of their concordance with CpG islands, nuclease sensitive sites, replication origins, zinc finger protein domains and viral integration sites. An investigation is required whether this phenomenon could contribute both to evolutionary diversity through increased recombination, the formation of unstable repeat sequences and variable methylation, and to the expression of multigene disease processes resulting in the production of variable and complex phenotypes, even within families.
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Registered trials
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.