ReviewJournal of genetics2021
X-chromosome inactivation: implications in human disease.
Review in Journal of genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled 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.
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
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.Nature communications · 2024Pooled it
- Sexually Dimorphic RNA Helicase DDX3Y, But Not DDX3X, Plays a Potential Tumor-Suppressive Role in Colorectal Carcinogenesis in Males.Biochemical genetics · 2026Article
- Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.Journal of inherited metabolic disease · 2026Article
- The Recycling Endosomal (NaActa physiologica (Oxford, England) · 2026Article
- Identification of end-stage renal disease-associated loci in X chromosome: an X chromosome-wide association study.MedScience · 2026Article
- Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study.BMC medical genomics · 2026Article
- Epigenetic modifications of immune cells in rheumatoid arthritis.Annals of medicine · 2025Review
- Leveraging research into sex differences and steroid hormones to improve brain health.Nature reviews. Endocrinology · 2025Review
- Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.Journal of child neurology · 2025Article
- Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22.Scientific reports · 2024Article
- Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.Molecular genetics and genomics : MGG · 2024Article
- Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.Journal of clinical immunology · 2024Article
- Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.Journal of clinical immunology · 2023Article
- Why does the X chromosome lag behind autosomes in GWAS findings?PLoS genetics · 2023Article
- Generation of blastoids from human parthenogenetic stem cells.Life medicine · 2023Article
- Relationship between Glucose-6-Phosphate Dehydrogenase Deficiency, X-Chromosome Inactivation and Inflammatory Markers.Antioxidants (Basel, Switzerland) · 2023Article
- Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus.Frontiers in neurology · 2023Article
- Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated withDiagnostics (Basel, Switzerland) · 2022Article
- X-linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation.Experimental and therapeutic medicine · 2022Article
- Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review.Molecular cytogenetics · 2022Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-chromosome inactivation (XCI) is a process involved in the pathogenesis of several diseases. In this mini review, we discuss the known mechanisms associated with XCI, when and how does it initiate, spreads and maintain, as well as the mechanisms that allow some genes to escape from it. We address the skewed XCI, condition in which the process are not fully randomized and its consequences to the phenotype of some pathologies. We debate about the known pathologies implicated, including X unbalanced rearrangements, X-autosomal balanced translocations, Turner and Klinefelter syndromes and also for X-linked diseases and its consequences in males and females. Some pathologies are discussed more in detail such as intellectual disability with a recognized relationship with XCI. Finally, possible future implications of genomic therapy and treatment of patients and list of areas that need further research on this topic are addressed.
Indexed as
Identifiers
34553695What OpenQuestion holds
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.