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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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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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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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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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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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TLR8 escapes X chromosome inactivation in human monocytes and CD4+ T cells
BackgroundHuman endosomal Toll-like receptors TLR7 and TLR8 recognize self and non-self RNA ligands, and are important mediators of innate immunity...
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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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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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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...
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The inactive X chromosome accumulates widespread epigenetic variability with age
BackgroundLoss of epigenetic control is a hallmark of aging. Among the most prominent roles of epigenetic mechanisms is the inactivation of one of...
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A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation
Yin and Yang 1 gene ( YY1 ; MIM#600,013) is recognized as a dual transcriptional activating and repressing factor, RNA-binding protein, and 3D...
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X chromosome dosage and the genetic impact across human tissues
BackgroundSex chromosome aneuploidies (SCAs) give rise to a broad range of phenotypic traits and diseases. Previous studies based on peripheral blood...
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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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A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity
Intellectual disabilities (ID) and autism spectrum disorders (ASD) are characterized by extreme genetic and phenotypic heterogeneity. However,...
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Robust association tests for quantitative traits on the X chromosome
The genome-wide association study is an elementary tool to assess the genetic contribution to complex human traits. However, such association tests...
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The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome?
BackgroundAssisted reproductive technologies (ART) may perturb DNA methylation (DNAm) in early embryonic development. Although a handful of...
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Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci
Sex influences the prevalence and symptoms of Lewy body dementia (LBD). However, genome-wide association studies typically focus on autosomal...
