ArticleFrontiers in genetics2020
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Systematic review of CMTX1 patients with episodic neurological dysfunction.Annals of clinical and translational neurology · 2021Pooled it
- Review
- Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study.BMC medical genomics · 2026Article
- Cytogenetic, genomic, and reproductive characterization of four Pura Raza Española Mares carrying a 64, X, del(X), t(X; Y) complex karyotype.Journal of animal science · 2026Article
- Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.Frontiers in pediatrics · 2026Article
- Genetic analysis of an asymptomatic female with a large Xp deletion revealed insights into the X chromosome inactivation pattern: a case report.Molecular cytogenetics · 2025Article
- Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.NPJ genomic medicine · 2025Article
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- 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
- Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.BMC genomics · 2024Article
- Article
- Emerging roles of long non-coding RNA FTX in human disorders.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Review
- Wild-type MECP2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome.Journal of neuroscience research · 2023Article
- 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
- Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements.Clinical epigenetics · 2021Article
- Review
- X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions.Frontiers in genetics · 2021Article
- Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.Molecular neurobiology · 2020Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In mammalian females, X-chromosome inactivation (XCI) acts as a dosage compensation mechanism that equalizes X-linked genes expression between homo- and heterogametic sexes. However, approximately 12-23% of X-linked genes escape from XCI, being bi-allelic expressed. Herein, we report on genetic and functional data from an asymptomatic female of a Fragile X syndrome family, who harbors a large deletion on the X-chromosome. Array-CGH uncovered that the
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