Evidence map›Paper›PMID 31109140›Full record

ReviewGenes2019

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism.

Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov, Sergei I Kutsev

Abstract readReview
In one paragraph

Review in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
–field-weighted citation impact
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

30 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Quantitative FISHing: Implications for Chromosomal Analysis.Methods in molecular biology (Clifton, N.J.) · 2024
    Article
  5. Review
  6. Article
  7. Cytogenomic epileptology.Molecular cytogenetics · 2023
    Review
  8. Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022
    Review
  9. Svetlana G. Vorsanova (1945-2021).Molecular cytogenetics · 2022
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Review
  19. Article
  20. Mosaicism in Human Health and Disease.Annual review of genetics · 2020
    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

4 authors.

Ivan Y IourovYurov's Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center, 117152 Moscow, Russia. ivan.iourov@gmail.com.ORCID 0000-0002-4134-8367
Svetlana G VorsanovaYurov's Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center, 117152 Moscow, Russia. svorsanova@mail.ru.ORCID 0000-0002-4869-5361
Yuri B YurovYurov's Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center, 117152 Moscow, Russia. y_yurov@yahoo.com.ORCID 0000-0002-9251-2286
Sergei I KutsevResearch Centre for Medical Genetics, 115522 Moscow, Russia. kutsev@mail.ru.ORCID 0000-0002-3133-8018

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intercellular karyotypic variability has been a focus of genetic research for more than 50 years. It has been repeatedly shown that chromosome heterogeneity manifesting as chromosomal mosaicism is associated with a variety of human diseases. Due to the ability of changing dynamically throughout the ontogeny, chromosomal mosaicism may mediate genome/chromosome instability and intercellular diversity in health and disease in a bottleneck fashion. However, the ubiquity of negligibly small populations of cells with abnormal karyotypes results in difficulties of the interpretation and detection, which may be nonetheless solved by post-genomic cytogenomic technologies. In the post-genomic era, it has become possible to uncover molecular and cellular pathways to genome/chromosome instability (chromosomal mosaicism or heterogeneity) using advanced whole-genome scanning technologies and bioinformatic tools. Furthermore, the opportunities to determine the effect of chromosomal abnormalities on the cellular phenotype seem to be useful for uncovering the intrinsic consequences of chromosomal mosaicism. Accordingly, a post-genomic review of chromosomal mosaicism in the ontogenetic and pathogenetic contexts appears to be required. Here, we review chromosomal mosaicism in its widest sense and discuss further directions of cyto(post)genomic research dedicated to chromosomal heterogeneity.

Indexed as

AneuploidyChromosomal InstabilityChromosomesDiploidyGenomeGenomic InstabilityGenomicsHumansKaryotypeKaryotypingMosaicismNondisjunction, Geneticaneuploidychromosomal instabilitychromosomechromosome heterogeneitygenome instabilitygenomic variationssomatic mosaicism

Identifiers

PMID31109140
PMCPMC6562967

What OpenQuestion holds

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Registered trials

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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.