Back to search

Article

<i>LMNA</i> Haploinsufficiency in Human iPSC-Derived Cardiac Organoids Reveals Early Fibrotic Signaling as a Therapeutically Targetable Process

2026-03-27

Abstract excerpt

<h4>ABSTRACT</h4> LMNA mutations are a major cause of dilated cardiomyopathy (DCM), with haploinsufficiency representing a common pathogenic mechanism. Yet the earliest disease-initiating events remain poorly defined. Here, we identify a novel intronic splice-site variant, c.937-1G>A, that disrupts pre-mRNA processing and induces nonsense-mediated mRNA decay, resulting in LMNA haploinsufficiency. Using induced p...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
e51a3165-63b0-566a-99d0-63e8cb319aa5
DOI
10.64898/2026.03.25.714182
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
<i>LMNA</i> Haploinsufficiency in Human iPSC-Derived Cardiac Organoids Reveals Early Fibrotic Signaling as a Therapeutically Targetable ProcessDOI 10.64898/2026.03.25.714182
<i>LMNA</i> -Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-derived iPSC Differentiation Support Cell type and Lineage-specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C HaploinsufficiencySemantic proximity
LMNA-Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-Derived iPSC Differentiation Support Cell Type and Lineage-Specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency.Semantic proximity
A highly penetrant <i>LMNA</i> R541C variant associated with dilated cardiomyopathy leads to dysregulation in metabolism and proliferation pathways in stem cell-derived cardiomyocytesSemantic proximity
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathiesSemantic proximity
Transcriptional Atlas of Cardiac DiseaseSemantic proximity
Integrated single-cell and spatial multiomic analysis reveals widespread reactivation of developmental programs in diseased human heartsSemantic proximity
Sequential defects in cardiac lineage commitment and maturation cause hypoplastic left heart syndromeSemantic proximity
Hypomorphic NOTCH1 Expression Alters Cardiomyocyte Cellular Architecture in Hypoplastic Left Heart SyndromeSemantic proximity
Cellular and Transcriptional Landscape of Human Hypoplastic Left Heart SyndromeSemantic proximity
Modeling structural and functional deficiencies of<i>RBM20</i>familial dilated cardiomyopathy using human induced pluripotent stem cellsSemantic proximity
HeartMap: An Integrated Cell Atlas of 2.4 million cells across 209 Individuals in Health and DiseaseSemantic proximity
Functional High Throughput Drug Screening Reveals Cyproheptadine as a Novel Treatment for <i>LMNA</i> -related CardiomyopathySemantic proximity
Select a neighboring publication to make it the new centre.