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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 ...

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 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 ...

Understanding the genetics of X chromosome inactivation

In some cases, X chromosome inactivation (Xi) can lead to diseases. ... DNA methylation was also positively associated with the level of X-linked ...

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 | Learn Science at Scitable - Nature

The sex chromosomes raise an interesting dilemma: females (XX) carry twice as many X-linked genes as males (XY), and this double dose is lethal to the early ...

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 ...

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 ...

X Inactivation in Females with X-Linked Disease

Kindreds have been identified in which several females have significantly unbalanced X-inactivation ratios, apparently inherited as an X-linked ...

X-Inactivation - an overview | ScienceDirect Topics

X-inactivation (or lyonization) refers to the inactivation of one of the X chromosomes in females to achieve dosage compensation of X-linked genes with males.

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

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

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 ...

The Role of X Inactivation and Cellular Mosaicism in Women's ...

As a consequence, most X-linked mutations produce male-only diseases. Yet, in some cases the dynamic interactions between cells in mosaic females lead to female ...

X-Chromosome Inactivation Analysis | Test Fact Sheet - ARUP Consult

Diagnostic Issues · Female carriers may be symptomatic in X-linked recessive disorders if the affected X chromosome is preferentially activated.

Altered X-chromosome inactivation in T cells may promote sex ...

Notably, X-chromosome inactivation (XCI) maintenance is altered in T cells of SLE patients and late-stage–disease NZB/W F1 female mice, and we ...

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 | 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-inactivation (article) | Khan Academy

How XX human females (and other female mammals) shut down one of their X chromosomes in each cell. Disorders of sex chromosome number: Klinefelter, triple X, ...

X-inactivation - Wikipedia

X-inactivation is a process by which one of the copies of the X chromosome is inactivated in therian female mammals. The inactive X chromosome is silenced ...


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.