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X‐Chromosome Inactivation and Related Diseases


X-Chromosome Inactivation and Related Diseases - PMC

X-chromosome inactivation (XCI) is the form of dosage compensation in mammalian female cells to balance X-linked gene expression levels of the two sexes.

X‐Chromosome Inactivation and Related Diseases - Sun - 2022

X-chromosome aneuploidy results in disease phenotypes in human: TS (45, X), Klinefelter syndrome (47, XXY), and triple X syndrome (47, XXX). For ...

X-Chromosome Inactivation and Related Diseases - PubMed

X-chromosome inactivation (XCI) is the form of dosage compensation in mammalian female cells to balance X-linked gene expression levels of ...

Escape from X chromosome inactivation and female bias of ...

During embryogenesis, one of the X chromosomes in the females is transcriptionally inactivated, in a process called X chromosome inactivation ( ...

X-Chromosome Inactivation and Skin Disease - ScienceDirect.com

One of the best-studied examples of an X-linked disease with a blaschkolinear pattern is incontinentia pigmenti (OMIM 308300). This disease is caused by ...

X-chromosome inactivation: implications in human disease

XCI has a protective effect in human chromosome aneuploidies, such as Turner syndrome (X) and Klinefelter syndrome (XXY), because it balances ...

X Chromosome Inactivation | Learn Science at Scitable - Nature

These syndromes may be attributed to the fact that X-linked genes that normally escape XCI are not expressed at the correct dosage. X-Inactivation Research: ...

Distributed X chromosome inactivation in brain circuitry ... - Cell Press

Thus, our results define a model of X-linked disease penetrance in females whereby distributed XCI among single cells populating brain circuitries can regulate ...

Understanding the genetics of X chromosome inactivation

For instance, individuals affected by Rett syndrome, a severe neurological disorder, possess two copies of the MeCP2 gene (methyl CpG binding ...

X-Inactivation - an overview | ScienceDirect Topics

There are a few diseases in which mutations on one of the X chromosomes cause decreased fitness of that cell such as those carrying mutations in NEMO, which ...

X-chromosome inactivation and its implications for human disease

As many X-linked genes can contribute to human disease, this mosaicism is an important modifier of X-linked genetic disorders. Whereas male ...

X-linked diseases: susceptible females | Genetics in Medicine - Nature

Malfunctions of genes in many pathways can interfere with intellectual capabilities. Extreme skewing of X-inactivation is frequently seen with ...

X Inactivation in Females with X-Linked Disease

If one of the X chromosomes has a mutation in a gene that normally enhances the proliferation, maturation, or life span of certain cells, then ...

X-chromosome inactivation and its implications for human disease

Ohno S. Sex chromosomes and Sex-linked genes. Berlin: Springer; 1967. 2. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature.

X Chromosome Inactivation in Carriers of Fabry Disease - MDPI

XCI is an epigenetic mechanism that equalizes the dosage of X-linked genes between sexes through the inactivation of one X chromosome in females. At the end of ...

X-linked diseases: susceptible females - Genetics in Medicine

Cell selection and random skewing are the most frequent causes of nonrandom X-inactivation. Random skewing frequently occurs because of events surrounding ...

X-Chromosome Inactivation and Related Diseases - ResearchGate

Many diseases are related to XCI due to inactivation escape and skewing, and the symptoms and severity of these diseases also largely depend on ...

X Chromosome Inactivation | SickKids

However, skewed X inactivation may result in symptoms of an X-linked disease if the chromosome carrying the mutation is preferentially active. X inactivation is ...

X-Chromosome Inactivation and Related Diseases - ProQuest

X-chromosome inactivation (XCI) is the form of dosage compensation in mammalian female cells to balance X-linked gene expression levels of the two sexes.

X‐Chromosome Inactivation and Related Diseases - Sun - 2022

The authors declare that they have no conflicts of interest. References. 1 Brown C. J. ...


X-linked genetic disease

An X-linked genetic disease is a disease inherited through a genetic defect on the X chromosome. In human cells, there is a pair of non-matching sex chromosomes, labelled X and Y.