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X chromosome dosage and the genetic impact across human tissues.

Genome medicine - 28 Mar 2023

Viuff Mette, Skakkebæk Anne, Johannsen Emma B, Chang Simon, Pedersen Steen Bønlykke, Lauritsen Katrine Meyer, Pedersen Mette Glavind Bülow, Trolle Christian, Just Jesper, Gravholt Claus H

Abstract excerpt

BACKGROUND: Sex chromosome aneuploidies (SCAs) give rise to a broad range of phenotypic traits and diseases. Previous studies based on peripheral blood samples have suggested the presence of ripple effects, caused by altered X chromosome number, affecting the methylome and transcriptome. Whether these alterations can be connected to disease-specific tissues, and thereby having clinical implication for the...

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Aneuploidy
GTP-Binding Proteins
Phenotype
Sex Chromosome Aberrations
Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36978128
DOI: 10.1186/s13073-023-01169-4
PMCID: PMC10053618

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