Cargando…

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder mainly characterized by gradual muscle loss, weakness, and delayed relaxation after muscle contraction. It is caused by an expanded CTG repeat in the 3′ UTR of DMPK, which is transcribed into a toxic gain-of-function mRNA...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hildonen, Mathis, Knak, Kirsten Lykke, Dunø, Morten, Vissing, John, Tümer, Zeynep
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465187/ https://www.ncbi.nlm.nih.gov/pubmed/32823742 http://dx.doi.org/10.3390/genes11080936

Ejemplares similares

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

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

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

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)

Responsiveness of outcome measures in myotonic dystrophy type 1
por: Knak, Kirsten L., et al.
Publicado: (2020)

Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood
por: Buckley, Lauren, et al.
Publicado: (2016)

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)

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

Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing
por: Franck, Silvie, et al.
Publicado: (2022)

Analysis of mutational dynamics at the DMPK (CTG)(n) locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1
por: Corrales, Eyleen, et al.
Publicado: (2019)

Role of Myotonic Dystrophy Protein Kinase (DMPK) in Glucose Homeostasis and Muscle Insulin Action
por: Llagostera, Esther, et al.
Publicado: (2007)

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

Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis
por: Bhardwaj, Rishi R., et al.
Publicado: (2010)

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice
por: Jauvin, Dominic, et al.
Publicado: (2017)

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)

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells
por: Pešović, Jovan, et al.
Publicado: (2018)

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

Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells
por: Porquet, Florent, et al.
Publicado: (2023)

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
por: Barbé, Lise, et al.
Publicado: (2017)

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

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)

Muscleblind1, but Not Dmpk or Six5, Contributes to a Complex Phenotype of Muscular and Motivational Deficits in Mouse Models of Myotonic Dystrophy
por: Matynia, Anna, et al.
Publicado: (2010)

AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1
por: Stepniak-Konieczna, Ewa, et al.
Publicado: (2020)

Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in the DMPK gene
por: Cardinali, Beatrice, et al.
Publicado: (2021)

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)

Retrotransposition creates sloping shores: a graded influence of hypomethylated CpG islands on flanking CpG sites
por: Grandi, Fiorella C., et al.
Publicado: (2015)

Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype
por: Witting, Nanna, et al.
Publicado: (2011)

Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface
por: Pantic, B, et al.
Publicado: (2013)

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells
por: Yanovsky-Dagan, Shira, et al.
Publicado: (2015)

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)

Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus
por: Brouwer, Judith Rixt, et al.
Publicado: (2013)

Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice
por: Lo Scrudato, Mirella, et al.
Publicado: (2019)

Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences
por: van Cruchten, Remco T.P., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_9dfgu4ag0o1nqqvgbct25heq13