Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24262
Abstract: Xq28 duplication syndrome (MIM# 300815) is a severe neurodevelopmental disorder in males due to MeCP2 overexpression. Most females with MECP2 duplication are asymptomatic carriers, but there are phenotypic heterogeneities. Skewed X‐chromosome inactivation (XCI) can protect… read more here.
Keywords: xci; duplication; asymptomatic females; xq28 duplication ... See more keywords
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay
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DOI: 10.1007/s10157-021-02099-4
Abstract: Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A. Males are usually severely affected, while females have a wide range of disease severity. This variability has… read more here.
Keywords: methylation dependent; chromosome inactivation; fabry disease; disease ... See more keywords
Clonal analysis of early-stage bilateral papillary thyroid cancer identifies field cancerization
Sign Up to like & getrecommendations! Published in 2019 at "Endocrine"
DOI: 10.1007/s12020-019-01877-1
Abstract: IntroductionBilaterality is a newly identified indicator for aggressive tumor behavior and poor outcome in papillary thyroid cancer. However, the clonal origin of these bilateral tumors remains unclear.MethodsHere we analyzed 28 pairs of early-stage papillary thyroid… read more here.
Keywords: papillary thyroid; chromosome inactivation; thyroid; early stage ... See more keywords
Female Fabry disease patients and X-chromosome inactivation.
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DOI: 10.1016/j.gene.2017.10.064
Abstract: Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has… read more here.
Keywords: disease patients; xci; fabry disease; disease ... See more keywords
Live-Cell Imaging and Functional Dissection of Xist RNA Reveal Mechanisms of X Chromosome Inactivation and Reactivation
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DOI: 10.1016/j.isci.2018.09.007
Abstract: Summary We double-tagged Xist (inactivated X chromosome-specific transcript), a prototype long non-coding RNA pivotal for X chromosome inactivation (XCI), using the programmable RNA sequence binding domain of Pumilio protein, one tag for live-cell imaging and… read more here.
Keywords: cell imaging; live cell; xist; rna ... See more keywords
Straight to the X: Modeling Human X Chromosome Inactivation in hESCs by FGF Signal Blockade.
Sign Up to like & getrecommendations! Published in 2020 at "Cell stem cell"
DOI: 10.1016/j.stem.2020.08.008
Abstract: In this issue of Cell Stem Cell, An et al. (2020) provide a model to study human X chromosome inactivation. They followed X chromosome activity and traced cellular heterogeneity in naive hESCS, showed that it is… read more here.
Keywords: blockade; chromosome inactivation; hescs; human chromosome ... See more keywords
Attrition of X Chromosome Inactivation in Aged Hematopoietic Stem Cells
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DOI: 10.1016/j.stemcr.2021.03.007
Abstract: Summary During X chromosome inactivation (XCI), the inactive X chromosome (Xi) is recruited to the nuclear lamina at the nuclear periphery. Beside X chromosome reactivation resulting in a highly penetrant aging-like hematopoietic malignancy, little is… read more here.
Keywords: aged hematopoietic; hematopoietic stem; stem; chromosome inactivation ... See more keywords
Corrigendum: Landscape of X chromosome inactivation across human tissues
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DOI: 10.1038/nature25993
Abstract: This corrects the article DOI: 10.1038/nature24265 read more here.
Keywords: landscape chromosome; human tissues; inactivation across; corrigendum landscape ... See more keywords
SPEN is required for Xist upregulation during initiation of X chromosome inactivation
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DOI: 10.1038/s41467-021-27294-5
Abstract: At initiation of X chromosome inactivation (XCI), Xist is monoallelically upregulated from the future inactive X (Xi) chromosome, overcoming repression by its antisense transcript Tsix. Xist recruits various chromatin remodelers, amongst them SPEN, which are… read more here.
Keywords: xist upregulation; initiation; initiation chromosome; chromosome inactivation ... See more keywords
A single-cell transcriptome atlas of marsupial embryogenesis and X inactivation
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DOI: 10.1038/s41586-020-2629-6
Abstract: Single-cell RNA sequencing of embryos can resolve the transcriptional landscape of development at unprecedented resolution. To date, single-cell RNA-sequencing studies of mammalian embryos have focused exclusively on eutherian species. Analysis of mammalian outgroups has the… read more here.
Keywords: single cell; inactivation; embryogenesis; chromosome inactivation ... See more keywords
A novel approach to differentiate rat embryonic stem cells in vitro reveals a role for RNF12 in activation of X chromosome inactivation
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-42246-2
Abstract: X chromosome inactivation (XCI) is a mammalian specific, developmentally regulated process relying on several mechanisms including antisense transcription, non-coding RNA-mediated silencing, and recruitment of chromatin remodeling complexes. In vitro modeling of XCI, through differentiation of… read more here.
Keywords: embryonic stem; chromosome inactivation; stem cells; rat ... See more keywords