Výsledky vyhledávání - "Emma Koehorst"

Akademický článek

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

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

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Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1

Autor: Emma Koehorst, Jakub Chojnacki, Judit Núñez-Manchón, Mònica Suelves, Ana Pilar Gómez-Escribano, Rafael P. Vázquez-Manrique, Jaume Coll-Cantí, Andrea Arbex, Alicia Martínez-Piñeiro, Alba Ramos-Fransi, Guillem Pintos-Morell, Miriam Almendrote, Gisela Nogales-Gadea, Giuseppe Lucente, Alfonsina Ballester-Lopez

Publikováno v: Journal of Clinical Medicine; Volume 10; Issue 23; Pages: 5520
Journal of Clinical Medicine
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Journal of Clinical Medicine, Vol 10, Iss 5520, p 5520 (2021)
Scientia

Traducció RAN; Transcripció antisentit; Moduladors fenotípics Traducción RAN; Transcripción antisentido; Moduladores fenotípicos RAN translation; Antisense transcription; Phenotypic modulators Myotonic Dystrophy type 1 (DM1) is a muscular dystr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::338ec6d37a6b41031e99d72cb50b0a41

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The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

Autor: Gisela Nogales-Gadea, Emma Koehorst, Alicia Martínez-Piñeiro, Alfonsina Ballester-Lopez, Virginia Arechavala-Gomeza

Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 9, Iss 3939, p 3939 (2020)

MicroRNAs (miRNAs) are mostly known for their gene regulation properties, but they also play an important role in intercellular signaling. This means that they can be found in bodily fluids, giving them excellent biomarker potential. Myotonic Dystrop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b010d3bc62114df65cbe2a225193b691
http://europepmc.org/articles/PMC7762003

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Muscle single-cell analysis reveals that RNA foci accumulation is linked to muscle dysfunction in patients with myotonic dystrophy type I

Autor: Jaume Col-Cantí, Emma Koehorst, Adolfo López de Munain, Darren G. Monckton, Jonathan J. Magaña, Judit Núñez-Manchón, Sarah A. Cumming, Alba Ramos-Fransi, Laura Palomo, Miriam Almendrote, Guillem Pintos-Morell, Giuseppe Lucente, Alejandro Lucia, Gisela Nogales-Gadea, Alicia Martínez-Piñeiro, Francesc Solé, Ian Linares-Pardo, Ana Maria Cobo, Alfonsina Ballester-Lopez

Single cell analysis has numerous potential applications, for instance in the context of myotonic dystrophy type I (DM1). This disease is caused by a CTG expansion in the dystrophia myotonica-protein kinase (DMPK) gene, with CTG expansion length bein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4b5ca38f75c9c8812059a7bc8fd0630d
https://doi.org/10.22541/au.159602544.49698039

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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

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Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype

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

Publikováno v: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Neurology-Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Neurology: Genetics

ObjectiveWe aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1).MethodsWe obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f61c190fcd0ae06fcd171295ac2ab1
https://hdl.handle.net/11268/9157

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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

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Manifesting heterozygotes in McArdle disease

Publikováno v: Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Journal of Inherited Metabolic Disease, 41(6), 1027-1035. Wiley

McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of “manifesting” heterozygotes or carriers (i.e., patients who show some McArdle-like symptoms

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8da98cd3d23a3807e4f579b7c7a2ee
https://cris.maastrichtuniversity.nl/en/publications/52723cfd-81a3-4149-873c-faf67343d401

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

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

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