ReviewAmerican journal of human genetics2022
Consequences of chromosome gain: A new view on trisomy syndromes.
Review in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06943170 (Effects of Aerobic Exercise With and Without Low Calorie Diet on Adiposity and BMI of Overweight and Obese Children With Down Syndrome), which is not on this map. Cited by 19 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.
Effects of Aerobic Exercise With and Without Low Calorie Diet on Adiposity and BMI of Overweight and Obese Children With Down Syndrome
Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- Trisomy 8 alters chromatin conformations and activates Y chromosome genes in stem cells to drive a pre-leukemic state.Oncogene · 2026Article
- Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation.Genome research · 2026Article
- Proteome Signature of Alzheimer-Like Phenotypes in Frontal Cortices From Young and Old Individuals With Down Syndrome.Molecular neurobiology · 2025Article
- Role of cystathionine-β-synthase and hydrogen sulfide in down syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Review
- Depletion of aneuploid cells is shaped by cell-to-cell interactions.Cell genomics · 2025Article
- Genetic analysis of partial duplication of the long arm of chromosome 16.BMC medical genomics · 2024Article
- Article
- Mosaic variegated aneuploidy in development, ageing and cancer.Nature reviews. Genetics · 2024Review
- Comparative Analysis of Fluorescence In Situ Hybridization and Next-Generation Sequencing in Sperm Evaluation: Implications for Preimplantation Genetic Testing and Male Infertility.International journal of molecular sciences · 2024Review
- Down Syndrome in Children: A Primary Immunodeficiency with Immune Dysregulation.Children (Basel, Switzerland) · 2024Article
- Patterns of Aneuploidy and Signaling Consequences in Cancer.Cancer research · 2024Review
- Chromosome Division in Early Embryos-Is Everything under Control? And Is the Cell Size Important?International journal of molecular sciences · 2024Review
- Low androgen signaling rescues genome integrity with innate immune response by reducing fertility in humans.Cell death & disease · 2024Article
- Characterizing primary transcriptional responses to short term heat shock in Down syndrome.PloS one · 2024Article
- Chromosome analysis of foetal tissue from 1903 spontaneous abortion patients in 5 regions of China: a retrospective multicentre study.BMC pregnancy and childbirth · 2023Article
- Trisomies Reorganize Human 3D Genome.International journal of molecular sciences · 2023Article
- Chromosome instability and aneuploidy in the mammalian brain.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023Review
- Diverse microtubule-targeted anticancer agents kill cells by inducing chromosome missegregation on multipolar spindles.PLoS biology · 2023Article
- Genomic instability in individuals with sex determination defects and germ cell cancer.Cell death discovery · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome gains are detrimental for the development of the human embryo. As such, autosomal trisomies almost always result in spontaneous abortion, and the rare embryos surviving until live birth suffer from a plethora of pathological defects. There is no treatment currently available to ameliorate the consequences of trisomies, such as Down syndrome (trisomy of chromosome 21). Identifying the source of the phenotypes observed in cells with extra chromosomes is crucial for understanding the underlying molecular causes of trisomy syndromes. Although increased expression of the genes localized on the extra chromosome triggers several pathological phenotypes, an alternative model suggests that global, aneuploidy-associated changes in cellular physiology also contribute to the pathology. Here, we compare the molecular consequences of trisomy syndromes in vivo against engineered cell lines carrying various chromosome gains in vitro. We point out several phenotypes that are shared by variable trisomies and, therefore, might be caused by the presence of an extra chromosome per se, independent of its identity. This alternative view may provide useful insights for understanding Down syndrome pathology and open additional opportunities for diagnostics and treatments.
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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.