Cargando…

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis

X-chromosome inactivation (XCI) is a developmental process to compensate the imbalance in the dosage of X-chromosomal genes in females. A skewing of the XCI pattern may suggest a carrier status for an X-linked disease or explain the presence of a severe phenotype. In these cases, it is important to...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rodrigues, Bárbara, Gonçalves, Ana, Sousa, Vanessa, Maia, Nuno, Marques, Isabel, Vale-Fernandes, Emídio, Santos, Rosário, Nogueira, António J. A., Jorge, Paula
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8951761/ https://www.ncbi.nlm.nih.gov/pubmed/35327973 http://dx.doi.org/10.3390/genes13030419

Ejemplares similares

Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations
por: Rodrigues, Bárbara, et al.
Publicado: (2020)

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
por: Nobile, Veronica, et al.
Publicado: (2021)

Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study
por: Barad, David H., et al.
Publicado: (2017)

Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements
por: Kawashima, Sayaka, et al.
Publicado: (2021)

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
por: Alvarez-Mora, Maria Isabel, et al.
Publicado: (2022)

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation
por: Cotton, Allison M., et al.
Publicado: (2015)

X‐chromosomal inactivation patterns in women with Fabry disease
por: Wagenhäuser, Laura, et al.
Publicado: (2022)

A Chromosomal Memory Triggered by Xist Regulates Histone Methylation in X Inactivation
por: Kohlmaier, Alexander, et al.
Publicado: (2004)

Testing the FMR1 Promoter for Mosaicism in DNA Methylation among CpG Sites, Strands, and Cells in FMR1-Expressing Males with Fragile X Syndrome
por: Stöger, Reinhard, et al.
Publicado: (2011)

Selection of X-chromosome Inactivation Model
por: Wang, Jian, et al.
Publicado: (2017)

Polycomb complexes in X chromosome inactivation
por: Brockdorff, Neil
Publicado: (2017)

Mechanisms of Choice in X-Chromosome Inactivation
por: Furlan, Giulia, et al.
Publicado: (2022)

X-Chromosome Inactivation and Related Diseases
por: Sun, Zhuo, et al.
Publicado: (2022)

Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels
por: Brendel, Cornelia, et al.
Publicado: (2013)

Mechanics and Dynamics of X-Chromosome Pairing at X Inactivation
por: Scialdone, Antonio, et al.
Publicado: (2008)

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome
por: Xie, Nina, et al.
Publicado: (2016)

Zebrafish Chromosome 14 Gene Differential Expression in the fmr1(hu2787) Model of Fragile X Syndrome
por: Barthelson, Karissa, et al.
Publicado: (2021)

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes
por: Seixas, Ana I, et al.
Publicado: (2011)

Synergism of Xist Rna, DNA Methylation, and Histone Hypoacetylation in Maintaining X Chromosome Inactivation
por: Csankovszki, Györgyi, et al.
Publicado: (2001)

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation
por: Cotton, Allison M., et al.
Publicado: (2011)

Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
por: Alisch, Reid S, et al.
Publicado: (2013)

X Chromosome Inactivation during Drosophila Spermatogenesis
por: Hense, Winfried, et al.
Publicado: (2007)

X-chromosome inactivation: the molecular basis of silencing
por: Panning, Barbara
Publicado: (2008)

The Evolutionary Pathway of X Chromosome Inactivation in Mammals
por: Shevchenko, A.I., et al.
Publicado: (2013)

X Chromosome Inactivation in Opioid Addicted Women
por: Vousooghi, Nasim, et al.
Publicado: (2015)

X Chromosome Inactivation during Grasshopper Spermatogenesis
por: Viera, Alberto, et al.
Publicado: (2021)

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome
por: Machiela, Mitchell J., et al.
Publicado: (2016)

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation
por: Luijk, René, et al.
Publicado: (2018)

Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome
por: Mor-Shaked, Hagar, et al.
Publicado: (2018)

A robust test for X-chromosome genetic association accounting for X-chromosome inactivation and imprinting
por: Zhang, Yu, et al.
Publicado: (2020)

The role of Xist‐mediated Polycomb recruitment in the initiation of X‐chromosome inactivation
por: Bousard, Aurélie, et al.
Publicado: (2019)

The Probability to Initiate X Chromosome Inactivation Is Determined by the X to Autosomal Ratio and X Chromosome Specific Allelic Properties
por: Monkhorst, Kim, et al.
Publicado: (2009)

Inferring the three-dimensional structures of the X-chromosome during X-inactivation
por: Zhu, Hao, et al.
Publicado: (2019)

X Chromosomes' Shape-Shifting Foreshadows Random Inactivation
por: Chanut, Françoise
Publicado: (2006)

Evolutionary diversity and developmental regulation of X-chromosome inactivation
por: Escamilla-Del-Arenal, Martin, et al.
Publicado: (2011)

The role of X-chromosome inactivation in female predisposition to autoimmunity
por: Chitnis, Smita, et al.
Publicado: (2000)

The role of X-chromosome inactivation in female predispositionto autoimmunity
por: Chitnis, Smita, et al.
Publicado: (2001)

Skewed X-chromosome inactivation in patients with esophageal carcinoma
por: Li, Gang, et al.
Publicado: (2013)

Long Noncoding RNAs in Imprinting and X Chromosome Inactivation
por: Autuoro, Joseph M., et al.
Publicado: (2014)

Landscape of X chromosome inactivation across human tissues
por: Tukiainen, Taru, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_pnanut6qsvv0fh2llmmsobh2t7