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Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia,...
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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease
BackgroundX-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing...
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Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We...
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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after...
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Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
Chronic granulomatous disease (CGD) is a prototypical inborn error of immunity affecting phagocytes, in which these cells are unable to produce...
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Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the...
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A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing
X-chromosome inactivation (XCI) analyses often assist in diagnostics of X-linked traits, however accurate assessment remains challenging with current...
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A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family
ObjectiveTo analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random...
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X-chromosome inactivation patterns depend on age and tissue but not conception method in humans
Female somatic X-chromosome inactivation (XCI) balances the X-linked transcriptional dosages between the sexes, randomly silencing the maternal or...
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Ring Chromosome X
Cases with ring chromosome X (RCX) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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X chromosome inactivation skewing is common in advanced carotid atherosclerotic lesions in females and predicts secondary peripheral artery events
Background and aimSex differences in atherosclerosis have been described with female plaques being mostly perceived as stable and fibrous....
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Unraveling the role of **st in X chromosome inactivation: insights from rabbit model and deletion analysis of exons and repeat A
X chromosome inactivation (XCI) is a process that equalizes the expression of X-linked genes between males and females. It relies on **st ,...
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X-chromosome inactivation: implications in human disease
X-chromosome inactivation (XCI) is a process involved in the pathogenesis of several diseases. In this mini review, we discuss the known mechanisms...
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Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case–control study
BackgroundPrevious research has revealed that skewed X chromosome inactivation (SXCI) and androgen receptor (AR) CAG polymorphisms are associated...
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Sex differences in number of X chromosomes and X-chromosome inactivation in females promote greater variability in hearing among males
BackgroundFor more than 150 years, research studies have documented greater variability across males than across females (“greater male...
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Characteristics and clinical evaluation of X chromosome translocations
BackgroundIndividuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific...
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Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability...
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BEXCIS: Bayesian methods for estimating the degree of the skewness of X chromosome inactivation
BackgroundX chromosome inactivation (XCI) is an epigenetic phenomenon that one of two X chromosomes in females is transcriptionally silenced during...
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BAF complex-mediated chromatin relaxation is required for establishment of X chromosome inactivation
The process of epigenetic silencing, while fundamentally important, is not yet completely understood. Here we report a replenishable female mouse...
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Methylation status of genes esca** from X-chromosome inactivation in patients with X-chromosome rearrangements
BackgroundX-chromosome inactivation (XCI) is a mechanism in which one of two X chromosomes in females is randomly inactivated in order to compensate...
