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Articles, 4 records found
Articles 4 records found  
1.
19 p, 4.3 MB Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1 / Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Vázquez-Manrique, Rafael P. (Instituto de Salud Carlos III) ; Gómez-Escribano, Ana Pilar (Instituto de Salud Carlos III) ; Pintos-Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Suelves Esteban, Mònica (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
Myotonic Dystrophy type 1 (DM1) is a muscular dystrophy with a multi-systemic nature. It was one of the first diseases in which repeat associated non-ATG (RAN) translation was described in 2011, but has not been further explored since. [...]
2021 - 10.3390/jcm10235520
Journal of clinical medicine, Vol. 10 (november 2021)  
Detailed record - Creative Commons
2.
21 p, 3.0 MB 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 / Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Odria, Renato (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Capó, Júlia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Natera de Benito, Daniel. (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ; Saez, Verónica (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ; Nascimento, Andrés (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ; Ortez González, Carlos Ignacio (Institut de Recerca Pediàtrica Hospital Sant Joan de Déu. Neuromuscular Unit. Neuropediatric Department) ; Rubio, Miguel Ángel (Hospital del Mar (Barcelona, Catalunya)) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ; Lucente, Giuseppe (Institut Germans Trias i Pujol) ; Rodriguez-Palmero, Agustín (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol) ; Nogales-Gadea, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Suelves, Mònica (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
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 methy-lation profiles of four annotated CpG islands (CpGis) in the DMPK locus and neighbouring genes, in distinct DM1 tissues and derived cells, representing six DM1 subtypes, by bisulphite sequencing. [...]
2022 - 10.3390/biomedicines10061372
Biomedicines, Vol. 10 Núm. 6 (june 2022) , p. 1372  
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3.
8 p, 946.1 KB Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Puente-Alonso, Carles (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Monckton, Darren G. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK) ; Cumming, Sarah A. (Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona. Departament de Medicina
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. [...]
2020 - 10.3390/genes11111321
Genes, Vol. 11 (november 2020)  
Detailed record - Creative Commons
4.
9 p, 816.6 KB The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1 / Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Linares-Pardo, Ian (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Koehorst, Emma (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Núñez-Manchón, Judit (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pintos-Morell, Guillem (Hospital Universitari Vall d'Hebron) ; Coll-Cantí, Jaume (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Lucente, Giuseppe (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Arbex, Andrea (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Magaña, Jonathan J. (National Rehabilitation Institute (Mèxic)) ; Murillo-Melo, Nadia M. (National Rehabilitation Institute (Mèxic)) ; Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ; Monckton, Darren G. (University of Glasgow) ; Cumming, Sarah A. (University of Glasgow) ; Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
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. [...]
2020 - 10.3390/genes11070757
Genes, Vol. 11 (july 2020)  
Detailed record - Creative Commons

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