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19 p, 4.3 MB |
Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1
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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)
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2.
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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
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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.
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8 p, 946.1 KB |
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1
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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)
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4.
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9 p, 816.6 KB |
The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1
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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)
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5.
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9 p, 439.8 KB |
Three-dimensional imaging in myotonic dystrophy type 1
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Ballester-Lopez, Alfonsina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Núñez-Manchón, Judit (Institut Germans Trias i Pujol) ;
Koehorst, Emma (Institut Germans Trias i Pujol) ;
Linares-Pardo, Ian (Institut 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) ;
Guanyabens i Giral, Nicolau (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lopez-Osias, Marta (Institut Germans Trias i Pujol) ;
Suárez-Mesa, Adrián (Institut Germans Trias i Pujol) ;
Hanick, Shaliza Ann (Institut Germans Trias i Pujol) ;
Chojnacki, Jakub (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Pintos-Morell, Guillem (Institut Germans Trias i Pujol) ;
Coll-Cantí, Jaume (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) ;
Ramos-Fransi, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Nogales, Gisela (Institut Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona
We aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1). We obtained myoblasts from 6 patients with DM1 and 6 controls. [...]
2020 - 10.1212/NXG.0000000000000484
Neurology: Genetics, Vol. 6 (july 2020)
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