Cargando…

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

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease caused by a CTG repeat expansion in the 3′-untranslated region (UTR) of DMPK gene. DM1 alleles containing non-CTG variant repeats (VRs) have been described, with uncertain molecular and clinical consequences. The expanded...

Descripción completa

Detalles Bibliográficos
Autores principales:	Visconti, Virginia Veronica, Macrì, Elisa, D’Apice, Maria Rosaria, Centofanti, Federica, Massa, Roberto, Novelli, Giuseppe, Botta, Annalisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10299395/ https://www.ncbi.nlm.nih.gov/pubmed/37373276 http://dx.doi.org/10.3390/ijms241210129

Ejemplares similares

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing
por: Alfano, Massimiliano, et al.
Publicado: (2022)

Epigenetics of Myotonic Dystrophies: A Minireview
por: Visconti, Virginia Veronica, et al.
Publicado: (2021)

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)

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family
por: Fontana, Luana, et al.
Publicado: (2020)

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)

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

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

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)

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

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)

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)

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)

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

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)

Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2
por: Cardani, Rosanna, et al.
Publicado: (2013)

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

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles
por: Botta, Annalisa, et al.
Publicado: (2021)

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)

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)

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)

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

Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2
por: Spitalieri, Paola, et al.
Publicado: (2018)

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)

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)

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)

TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2
por: Bosè, Francesca, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_7k39l9maulp9ldusotpcoef0el