Cargando…

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

CTG repeat expansion in DMPK, the cause of myotonic dystrophy type 1 (DM1), frequently results in hypermethylation and reduced SIX5 expression. The contribution of hypermethylation to disease pathogenesis and the precise mechanism by which SIX5 expression is reduced are unknown. Using 14 different D...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yanovsky-Dagan, Shira, Avitzour, Michal, Altarescu, Gheona, Renbaum, Paul, Eldar-Geva, Talia, Schonberger, Oshrat, Mitrani-Rosenbaum, Stella, Levy-Lahad, Ephrat, Birnbaum, Ramon Y., Gepstein, Lior, Epsztejn-Litman, Silvina, Eiges, Rachel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618658/ https://www.ncbi.nlm.nih.gov/pubmed/26190529 http://dx.doi.org/10.1016/j.stemcr.2015.06.003

Ejemplares similares

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
por: Yanovsky-Dagan, Shira, et al.
Publicado: (2021)

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells
por: Avitzour, Michal, et al.
Publicado: (2014)

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis
por: Epsztejn-Litman, Silvina, et al.
Publicado: (2015)

Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis
por: Altarescu, Gheona, et al.
Publicado: (2012)

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells
por: Cohen-Hadad, Yaara, et al.
Publicado: (2016)

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader‐Willi male
por: Eldar‐Geva, Talia, et al.
Publicado: (2018)

Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation
por: Zeevi, David A., et al.
Publicado: (2018)

Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways
por: Vinograd-Byk, Hadar, et al.
Publicado: (2018)

Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis
por: Ioscovich, Alexander, et al.
Publicado: (2013)

Impact of prematurity and the CTG repeat length on outcomes in congenital myotonic dystrophy
por: Saito, Yu, et al.
Publicado: (2020)

Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats
por: van der Plas, Ellen, et al.
Publicado: (2019)

CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1
por: Hintze, Stefan, et al.
Publicado: (2021)

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1
por: Hogrel, Jean‐Yves, et al.
Publicado: (2017)

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1
por: Ballester-Lopez, Alfonsina, et al.
Publicado: (2020)

Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability
por: Ueki, Junko, et al.
Publicado: (2017)

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1
por: Miller, Jacob N., et al.
Publicado: (2020)

VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle
por: Cantarero, Lara, et al.
Publicado: (2015)

Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
por: Winblad, Stefan, et al.
Publicado: (2006)

Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
por: Mohan, Vasavi, et al.
Publicado: (2012)

Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I
por: Yoo, Woo-Kyoung, et al.
Publicado: (2017)

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
por: Ballester-Lopez, Alfonsina, et al.
Publicado: (2020)

Recovery in the Myogenic Program of Congenital Myotonic Dystrophy Myoblasts after Excision of the Expanded (CTG)n Repeat
por: André, Laurène M., et al.
Publicado: (2019)

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair
por: Gazy, Inbal, et al.
Publicado: (2015)

Neuropathology does not Correlate with Regional Differences in the Extent of Expansion of CTG Repeats in the Brain with Myotonic Dystrophy Type 1
por: Itoh, Kyoko, et al.
Publicado: (2010)

High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis
por: Butterfield, Russell J., et al.
Publicado: (2021)

Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1
por: de Pontual, Laure, et al.
Publicado: (2022)

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

Unexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach
por: Ikeda, Miki, et al.
Publicado: (2020)

SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing
por: Backenroth, Daniel, et al.
Publicado: (2023)

Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia
por: Ambrose, Kathlin K, et al.
Publicado: (2017)

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
por: Hildonen, Mathis, et al.
Publicado: (2020)

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
por: Moore, David F, et al.
Publicado: (2002)

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
por: Rasmussen, Astrid, et al.
Publicado: (2022)

Somatic CTG•CAG repeat instability in a mouse model for myotonic dystrophy type 1 is associated with changes in cell nuclearity and DNA ploidy
por: van den Broek, Walther JAA, et al.
Publicado: (2007)

CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients
por: Provenzano, Claudia, et al.
Publicado: (2017)

CRISPR/Cas9-Induced (CTG⋅CAG)(n) Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing
por: van Agtmaal, Ellen L., et al.
Publicado: (2017)

In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array
por: Visconti, Virginia Veronica, et al.
Publicado: (2023)

Myotonic Dystrophy-1 and Parkinson's Disease: Clarify the Role of CTG-repeat Size and Variants in VPS13C, SYNJ1, and DNAJC6
por: Finsterer, Josef, et al.
Publicado: (2023)

Predicting the CTG Repeat Size from a Single Spirometry Test Performed at Any Time during the Disease Course of Myotonic Dystrophy Type 1
por: Katsuse, Kazuto, et al.
Publicado: (2022)

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing
por: Nowak, Albina, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_srjqfqefgfiroaciu0irue76tu