Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery.

Disease models & mechanisms - 18 Jul 2018

Mondragon-Gonzalez Ricardo, Perlingeiro Rita C R

Abstract excerpt

Myotonic dystrophy 1 (DM1) is a multisystem disorder primarily affecting the central nervous system, heart and skeletal muscle. It is caused by an expansion of the CTG trinucleotide repeats in the 3' untranslated region of the DMPK gene. Although patient myoblasts have been used for studying the disease in vitro, the invasiveness as well as the low accessibility to muscle biopsies motivate the development of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cellular Reprogramming
Share to Drug Discovery

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Inbred NOD

Share to Mice, SCID

Share to Muscle Development

Share to Muscle Fibers, Skeletal

Share to Myotonic Dystrophy

Share to Oligonucleotides, Antisense

Source

Open in PubMed Open full text

Identifiers

PMID: 29898953
DOI: 10.1242/dmm.034728
PMCID: PMC6078411

Genes

BIN1
DMPK
MBNL1
PAX7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery.PMID 29898953Read ↗

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes.Semantic proximity Read ↗

Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1Semantic proximity Read ↗

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1.Semantic proximity Read ↗

Characterisation of <i>DMPK</i> and MBNL1 expression in cell models of Myotonic Dystrophy: A platform for drug screeningSemantic proximity Read ↗

Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cellsSemantic proximity Read ↗

Patient-derived 3D engineered human muscle model recapitulates <i>CLCN1</i> mis-splicing and myotonia in myotonic dystrophy type 1Semantic proximity Read ↗

Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse ModelSemantic proximity Read ↗

Aberrant neuronal differentiation and splicing defects in Congenital Myotonic Dystrophy (DM1) iPSC modelsSemantic proximity Read ↗

Human iPSC-derived muscle cells as a new model for investigation of EDMD1 pathogenesisSemantic proximity Read ↗

Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screeningSemantic proximity Read ↗

Myogenic Differentiation of Muscular Dystrophy-Specific Induced Pluripotent Stem Cells for Use in Drug DiscoverySemantic proximity Read ↗

Therapeutics development in myotonic dystrophy type 1Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.