Cargando…

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing

X-chromosome inactivation (XCI) analyses often assist in diagnostics of X-linked traits, however accurate assessment remains challenging with current methods. We developed a novel strategy using amplification-free Cas9 enrichment and Oxford nanopore technologies sequencing called XCI-ONT, to investi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Johansson, Josefin, Lidéus, Sarah, Höijer, Ida, Ameur, Adam, Gudmundsson, Sanna, Annerén, Göran, Bondeson, Marie-Louise, Wilbe, Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10409790/ https://www.ncbi.nlm.nih.gov/pubmed/37553382 http://dx.doi.org/10.1038/s41598-023-34413-3

Ejemplares similares

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
por: Wilbe, Maria, et al.
Publicado: (2017)

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
por: Johansson, Josefin, et al.
Publicado: (2022)

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
por: Höijer, Ida, et al.
Publicado: (2020)

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
por: Gudmundsson, Sanna, et al.
Publicado: (2019)

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI
por: Sun, Yixi, et al.
Publicado: (2019)

Mutation in NRAS in familial Noonan syndrome – case report and review of the literature
por: Ekvall, Sara, et al.
Publicado: (2015)

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
por: Gudmundsson, Sanna, et al.
Publicado: (2017)

XCI in preimplantation mouse and human embryos: first there is remodelling…
por: van den Berg, I. M., et al.
Publicado: (2011)

Artificial escape from XCI by DNA methylation editing of the CDKL5 gene
por: Halmai, Julian A N M, et al.
Publicado: (2020)

Isolation and characterization of vB_XciM_LucasX, a new jumbo phage that infects Xanthomonas citri and Xanthomonas fuscans
por: Marquioni, Vinícius, et al.
Publicado: (2022)

Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing
por: Höijer, Ida, et al.
Publicado: (2018)

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation
por: Thuresson, A.-C., et al.
Publicado: (2007)

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis
por: Godler, David E., et al.
Publicado: (2015)

Tissue of Origin, but Not XCI State, Influences Germ Cell Differentiation from Human Pluripotent Stem Cells
por: Chang, Yolanda W., et al.
Publicado: (2021)

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)

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

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

Observational Study of IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm (XCiDaBLE): Interim Results for the First 170 Subjects with Blepharospasm
por: Fernandez, Hubert H., et al.
Publicado: (2014)

Xist exerts gene-specific silencing during XCI maintenance and impacts lineage-specific cell differentiation and proliferation during hematopoiesis
por: Yang, Tianqi, et al.
Publicado: (2022)

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)

A statistical measure for the skewness of X chromosome inactivation for quantitative traits and its application to the MCTFR data
por: Li, Bao-Hui, et al.
Publicado: (2021)

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

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

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)

The Implication of Early Chromatin Changes in X Chromosome Inactivation
por: Żylicz, Jan Jakub, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_3eildosilga4d6b3dba2pfuh4r