Article

Quantification of X-chromosome inactivation in fibroblast and iPSC models of UBQLN2 ALS/FTD using allele-selective qPCR

2026-08-17

Abstract excerpt

Pathogenic missense variants in the X chromosome gene UBQLN2 cause amyotrophic lateral sclerosis (ALS), often accompanied by frontotemporal dementia (FTD). As an X-linked gene, UBQLN2 is subject to X chromosome inactivation (XCI), a process wherein one X chromosome in each cell is randomly inactivated to a Barr body throughout the body in females, creating a mosaic of allelic expression in the tissues of heterozyg...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 51c2836c-c227-59cf-b183-273b6904c3f6
DOI: 10.64898/2026.08.14.744950

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Quantification of X-chromosome inactivation in fibroblast and iPSC models of UBQLN2 ALS/FTD using allele-selective qPCRDOI 10.64898/2026.08.14.744950Read

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.Semantic proximity Read

A whole-organism landscape of X-inactivation in humansSemantic proximity Read

A meta-analysis of genetic variant pathogenicity and sex differences in<i>UBQLN2</i>-linked amyotrophic lateral sclerosis and frontotemporal dementiaSemantic proximity Read

Genetic drivers and cellular selection of female mosaic X chromosome loss.Semantic proximity Read

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selectionSemantic proximity Read

A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read

Landscape of X chromosome inactivation across human tissues.Semantic proximity Read

Landscape of X chromosome inactivation across human tissuesSemantic proximity Read

Intra-individual changes in the frequency of mosaic loss of chromosome Y over time estimated with a new methodSemantic proximity Read

ASXL3 truncating patient variants mediate transcriptional gain-of-function and are antisense oligonucleotide-responsiveSemantic proximity Read

Bayesian Estimation of Mosaic Loss of Chromosome Y from Bulk RNA Sequencing DataSemantic proximity Read

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.Semantic proximity Read