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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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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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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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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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A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are both caused by mutations in DMD gene effecting the expression of...
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Replication dynamics identifies the folding principles of the inactive X chromosome
Chromosome-wide late replication is an enigmatic hallmark of the inactive X chromosome (**). How it is established and what it represents remains...
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Contribution of genetic and epigenetic changes to escape from X-chromosome inactivation
BackgroundX-chromosome inactivation (XCI) is the epigenetic inactivation of one of two X chromosomes in XX eutherian mammals. The inactive X...
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Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing
BackgroundX-chromosome inactivation (XCI) in eutherian mammals is the epigenetic inactivation of one of the two X chromosomes in XX females in order...
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Single-cell landscape of nuclear configuration and gene expression during stem cell differentiation and X inactivation
BackgroundMammalian development is associated with extensive changes in gene expression, chromatin accessibility, and nuclear structure. Here, we...
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A statistical measure for the skewness of X chromosome inactivation for quantitative traits and its application to the MCTFR data
BackgroundX chromosome inactivation (XCI) is that one of two chromosomes in mammalian females is silenced during early development of embryos. There...
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Role of sex in immune response and epigenetic mechanisms
The functioning of the human immune system is highly dependent on the sex of the individual, which comes by virtue of sex chromosomes and hormonal...
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Who’s afraid of the X? Incorporating the X and Y chromosomes into the analysis of DNA methylation array data
BackgroundMany human disease phenotypes manifest differently by sex, making the development of methods for incorporating X and Y-chromosome data into...
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Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients
Familial exudative vitreoretinopathy (FEVR) is a severe inherited disease characterized by defective retinal vascular development. With genetic and...
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Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24
AbstractDifferentiation of induced pluripotent stem cells (iPSCs) from patients and healthy donors allows in vitro study of genetic disorders. The...
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X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects
Studies have shown that many complex diseases are sex-determined. When conducting genetic association studies on X-chromosome, there are two...
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Chromosome-specific retention of cancer-associated DNA hypermethylation following pharmacological inhibition of DNMT1
The DNA methylation status of the X-chromosome in cancer cells is often overlooked because of computational difficulties. Most of the CpG islands on...
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Decap** enzyme 1A breaks X-chromosome symmetry by controlling Tsix elongation and RNA turnover
How allelic asymmetry is generated remains a major unsolved problem in epigenetics. Here we model the problem using X-chromosome inactivation by...
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Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations
BackgroundPatients with balanced X-autosome translocations and premature ovarian insufficiency (POI) constitute an interesting paradigm to study the...
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What microRNAs could tell us about the human X chromosome
MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus playing key roles not only in almost all physiological...
