ReviewHuman molecular genetics2021
X-factors in human disease: impact of gene content and dosage regulation.
Review in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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.
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
22 citing papers in PubMed, 25 citations in OpenAlex.
- Escape from X-chromosome inactivation: from gene discovery to regulatory mechanisms.Biochemical Society transactions · 2026Review
- X-chromosomal genetic variants and haplotype analysis in male cerebral palsy patients: insights into genetic susceptibility and sex-specific risk.Journal of neurodevelopmental disorders · 2026Article
- Article
- First reported case of Turner syndrome with Krabbe disease in a child: a case report.Translational pediatrics · 2026Article
- Chromosomal and hormonal factors involved in human sexual dimorphism.Endocrine journal · 2026Review
- Escape from X inactivation is directly modulated by Xist noncoding RNA.Nature cell biology · 2026Article
- MRI patterns and clinical outcomes in cerebral palsy: insights from a large MRICS-based cohort.Journal of neurodevelopmental disorders · 2025Article
- Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype.Current issues in molecular biology · 2025Review
- Linking Genotype to Clinical Features inGenes · 2025Review
- X-linked competition - implications for human development and disease.Nature reviews. Genetics · 2025Review
- Sex chromosomes and gonads modify microglial-mediated pathology in a mouse model of Alzheimer's disease.Journal of neuroinflammation · 2025Article
- Population variability in X-chromosome inactivation across 10 mammalian species.Nature communications · 2024Article
- Stochasticity in genetics and gene regulation.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Review
- Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes.Thrombosis and haemostasis · 2024Article
- Minding the Gap: Exploring Neuroinflammatory and Microglial Sex Differences in Alzheimer's Disease.International journal of molecular sciences · 2023Review
- Population variability in X-chromosome inactivation across 9 mammalian species.bioRxiv : the preprint server for biology · 2023Article
- Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology.Nature reviews. Neurology · 2023Review
- Phenotypes and Genotypes in Patients withGenes · 2023Article
- Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review.Frontiers in genetics · 2023Article
- X chromosome agents of sexual differentiation.Nature reviews. Endocrinology · 2022Review
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 1 institution in 1 country.
Funding
Abstract
The gene content of the X and Y chromosomes has dramatically diverged during evolution. The ensuing dosage imbalance within the genome of males and females has led to unique chromosome-wide regulatory mechanisms with significant and sex-specific impacts on X-linked gene expression. X inactivation or silencing of most genes on one X chromosome chosen at random in females profoundly affects the manifestation of X-linked diseases, as males inherit a single maternal allele, while females express maternal and paternal alleles in a mosaic manner. An additional complication is the existence of genes that escape X inactivation and thus are ubiquitously expressed from both alleles in females. The mosaic nature of X-linked gene expression and the potential for escape can vary between individuals, tissues, cell types and stages of life. Our understanding of the specialized nature of X-linked genes and of the multilayer epigenetic regulation that influence their expression throughout the organism has been helped by molecular studies conducted by tissue-specific and single-cell-specific approaches. In turn, the definition of molecular events that control X silencing has helped develop new approaches for the treatment of some X-linked disorders. This review focuses on the peculiarities of the X chromosome genetic content and epigenetic regulation in shaping the manifestation of congenital and acquired X-linked disorders in a sex-specific manner.
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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.