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
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1917
Abstract: BACKGROUND Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X-chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue differences in XCI, and skewing… read more here.
Keywords: rett syndrome; inactivation; xci; status ... See more keywords
Female Fabry disease patients and X-chromosome inactivation.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
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
Improved HUMARA for the Detection of X-Linked Agammaglobulinemia Carriers.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0139
Abstract: Background: Fragment analysis of exon 1 of the human androgen receptor, known as HUMARA, is a polymerase chain reaction (PCR)-based method for detecting X-linked agammaglobulinemia (XLA) carriers. This method takes advantage of X-chromosome inactivation (XCI)… read more here.
Keywords: improved humara; humara detection; xci; carrier ... See more keywords
Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans
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DOI: 10.1534/genetics.119.302600
Abstract: Structural maintenance of chromosomes flexible hinge domain-containing l (SMCHDl) is an architectural factor critical for X chromosome inactivation (XCI). In mice, loss of all Smchdl causes female-specific embryonic lethality due to an XCI defect. However...… read more here.
Keywords: gene; architectural factor; xci; chromosome inactivation ... See more keywords
X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.782629
Abstract: Prenatal risk assessment of carriers of heterozygous X-linked deletion is a big challenge due to the phenotypic modification induced by X chromosome inactivation (XCI). Herein, we described four Chinese pedigrees with maternal-inherited X-deletions above 1… read more here.
Keywords: carriers pathogenic; female carriers; chromosome inactivation; linked deletions ... See more keywords
Preferential X Chromosome Inactivation as a Mechanism to Explain Female Preponderance in Myasthenia Gravis
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13040696
Abstract: Myasthenia gravis (MG) is a neuromuscular autoimmune disease characterized by prevalence in young women (3:1). Several mechanisms proposed as explanations for gender bias, including skewed X chromosome inactivation (XCI) and dosage or sex hormones, are… read more here.
Keywords: myasthenia gravis; xci; xci pattern; chromosome inactivation ... See more keywords