Cargando…
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. We...
Autores principales: | Ballester-Lopez, Alfonsina, Koehorst, Emma, Linares-Pardo, Ian, Núñez-Manchón, Judit, Almendrote, Miriam, Lucente, Giuseppe, Arbex, Andrea, Alonso, Carles Puente, Lucia, Alejandro, Monckton, Darren G., Cumming, Sarah A., Pintos-Morell, Guillem, Coll-Cantí, Jaume, Ramos-Fransi, Alba, Martínez-Piñeiro, Alicia, Nogales-Gadea, Gisela |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695006/ https://www.ncbi.nlm.nih.gov/pubmed/33171734 http://dx.doi.org/10.3390/genes11111321 |
Ejemplares similares
-
The Need for Establishing a Universal CTG Sizing Method in 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)