ReviewPLoS genetics2021
The good, the bad, and the ugly: Evolutionary and pathological aspects of gene dosage alterations.
Review in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Systematic characterization of existing and novel inducible transgenic systems in human pluripotent stem cells after prolonged differentiation.bioRxiv : the preprint server for biology · 2025Article
- HJ Muller and the Relationship Between Sex Chromosome Degeneration and the Evolution of Dosage Compensation.Genome biology and evolution · 2025Review
- Convergent evolution of H4K16ac-mediated dosage compensation in the ZW species Artemia franciscana.PLoS genetics · 2025Article
- Control of striatal circuit development by the chromatin regulatorScience advances · 2025Article
- Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation.Frontiers in genetics · 2025Article
- Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.Frontiers in medicine · 2025Article
- Quantitative perturbation-phenotype maps reveal nonlinear responses underlying robustness of PAR-dependent asymmetric cell division.PLoS biology · 2024Article
- Compensation of gene dosage on the mammalian X.Development (Cambridge, England) · 2024Review
- Harderian Gland Development and Degeneration in theJournal of developmental biology · 2024Article
- Article
- RNA stability controlled by mNature structural & molecular biology · 2023Article
- T cell receptor gene repertoire profiles in subgroups of patients with chronic lymphocytic leukemia bearing distinct genomic aberrations.Frontiers in oncology · 2023Article
- Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Diploid organisms contain a maternal and a paternal genome complement that is thought to provide robustness and allow developmental progression despite genetic perturbations that occur in heterozygosity. However, changes affecting gene dosage from the chromosome down to the individual gene level possess a significant pathological potential and can lead to developmental disorders (DDs). This indicates that expression from a balanced gene complement is highly relevant for proper cellular and organismal function in eukaryotes. Paradoxically, gene and whole chromosome duplications are a principal driver of evolution, while heteromorphic sex chromosomes (XY and ZW) are naturally occurring aneuploidies important for sex determination. Here, we provide an overview of the biology of gene dosage at the crossroads between evolutionary benefit and pathogenicity during disease. We describe the buffering mechanisms and cellular responses to alterations, which could provide a common ground for the understanding of DDs caused by copy number alterations.
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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.