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

Autor: Emma Koehorst, Renato Odria, Júlia Capó, Judit Núñez-Manchón, Andrea Arbex, Miriam Almendrote, Ian Linares-Pardo, Daniel Natera-de Benito, Verónica Saez, Andrés Nascimento, Carlos Ortez, Miguel Ángel Rubio, Jordi Díaz-Manera, Jorge Alonso-Pérez, Giuseppe Lucente, Agustín Rodriguez-Palmero, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea, Mònica Suelves

Publikováno v: Biomedicines, Vol 10, Iss 6, p 1372 (2022)

Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to the complexity of DM1, we compared DNA methylation profiles of four annotated CpG islands (CpGis) in the DMPK

Externí odkaz: https://doaj.org/article/b576b232a7bf4442838513ca2c248aa2

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

Autor: Gisela Nogales-Gadea, Ian Linares-Pardo, Emma Koehorst, Alba Ramos-Fransi, Jaume Coll-Cantí, Guillem Pintos-Morell, Jonathan J. Magaña, Andrea Arbex, Sarah A. Cumming, Alejandro Lucia, Alfonsina Ballester-Lopez, Darren G. Monckton, Alicia Martínez-Piñeiro, Miriam Almendrote, Giuseppe Lucente, Nadia M Murillo-Melo, Judit Núñez-Manchón

Publikováno v: Genes
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Genes, Vol 11, Iss 757, p 757 (2020)

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 relate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce5ec8b1b6e85823aa165e4a9c33853
https://pubmed.ncbi.nlm.nih.gov/32645888

Three-dimensional imaging in myotonic dystrophy type 1

Autor: Alfonsina Ballester-Lopez, Judit Núñez-Manchón, Emma Koehorst, Ian Linares-Pardo, Miriam Almendrote, Giuseppe Lucente, Nicolau Guanyabens, Marta Lopez-Osias, Adrián Suárez-Mesa, Shaliza Ann Hanick, Jakub Chojnacki, Alejandro Lucia, Guillem Pintos-Morell, Jaume Coll-Cantí, Alicia Martínez-Piñeiro, Alba Ramos-Fransi, Gisela Nogales-Gadea

Publikováno v: Neurology Genetics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::61f61c190fcd0ae06fcd171295ac2ab1

Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

Autor: Ignacio Ara, Alejandro Santos-Lozano, Gisela Nogales-Gadea, Alba Ramos-Fransi, Joaquín Arenas, Carlos Rodriguez-Lopez, Guillem Pintos-Morell, Mauricio de Castro, Daniëlle Coenen, Giuseppe Lucente, Miguel A. Martín, Emma Koehorst, Judit Núñez-Manchón, Jaume Coll-Cantí, Ian Linares-Pardo, Miriam Almendrote, Alicia Martínez-Piñeiro, Alfonsina Ballester-Lopez, Alfredo Santalla, Alejandro Lucia

Publikováno v: Journal of Inherited Metabolic Disease. 41:1295-1295

Unfortunately the name of one of the authors was spelled incorrectly in the published original article. The correct name is Alejandro Santos-Lozano. The original article got updated.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fdc4eda31c88df15718135fe68e68244
https://doi.org/10.1007/s10545-018-0236-6

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.

Autor: Ballester‐Lopez, Alfonsina, Koehorst, Emma, Almendrote, Miriam, Martínez‐Piñeiro, Alicia, Lucente, Giuseppe, Linares‐Pardo, Ian, Núñez‐Manchón, Judit, Guanyabens, Nicolau, Cano, Antoni, Lucia, Alejandro, Overend, Gayle, Cumming, Sarah A., Monckton, Darren G., Casadevall, Teresa, Isern, Irina, Sánchez‐Ojanguren, Josep, Planas, Albert, Rodríguez‐Palmero, Agustí, Monlleó‐Neila, Laura, Pintos‐Morell, Guillem

Publikováno v: Human Mutation; Feb2020, Vol. 41 Issue 2, p420-431, 12p