Cargando…

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

The number of cytosine-thymine-guanine (CTG) repeats (‘CTG expansion size’) in the 3′untranslated region (UTR) region of the dystrophia myotonica-protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. However...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ballester-Lopez, Alfonsina, Linares-Pardo, Ian, Koehorst, Emma, Núñez-Manchón, Judit, Pintos-Morell, Guillem, Coll-Cantí, Jaume, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Magaña, Jonathan J., Murillo-Melo, Nadia M., Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales-Gadea, Gisela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397178/ https://www.ncbi.nlm.nih.gov/pubmed/32645888 http://dx.doi.org/10.3390/genes11070757

Ejemplares similares

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

Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1
por: Koehorst, Emma, et al.
Publicado: (2021)

Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype
por: Ballester-Lopez, Alfonsina, et al.
Publicado: (2020)

The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I
por: Koehorst, Emma, et al.
Publicado: (2020)

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation
por: Koehorst, Emma, 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)

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

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
por: Santalla, Alfredo, 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)

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

CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1
por: Hintze, Stefan, 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)

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

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

Disease burden of myotonic dystrophy type 1
por: Landfeldt, Erik, et al.
Publicado: (2019)

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)

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)

Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR
por: Gomes-Pereira, Mário, et al.
Publicado: (2017)

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)

Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
por: van der Plas, Ellen, et al.
Publicado: (2021)

Correlation of Inter-Locus Polyglutamine Toxicity with CAG•CTG Triplet Repeat Expandability and Flanking Genomic DNA GC Content
por: Nestor, Colm E., et al.
Publicado: (2011)

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)

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I
por: López-Martínez, Andrea, et al.
Publicado: (2020)

Fabry disease in children and the effects of enzyme replacement treatment
por: Pintos-Morell, Guillem, et al.
Publicado: (2009)

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)

Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA
por: Gomes-Pereira, Mário, et al.
Publicado: (2021)

Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey
por: Barba-Romero, Miguel-Ángel, et al.
Publicado: (2016)

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1
por: Landfeldt, Erik, et al.
Publicado: (2020)

Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI
por: Heskamp, Linda, et al.
Publicado: (2019)

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)

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)

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1
por: Flower, Michael, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_7qi61k7h7u5cv109gbfv52pqjv