ArticleHuman mutation2016
MESP1 Mutations in Patients with Congenital Heart Defects.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 33 citations in OpenAlex.
- Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.Circulation. Genomic and precision medicine · 2021Trial
- Uric Acid Disrupts Heart Development in Zebrafish by Inhibiting the Wnt Signaling Pathway.Cardiovascular toxicology · 2025Article
- Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024Article
- Insights into the genetic architecture of congenital heart disease from animal modeling.Zoological research · 2023Review
- High levels ofTranslational cancer research · 2020Article
- MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation.Journal of molecular medicine (Berlin, Germany) · 2020Article
- Associations between IL-6 Variations and Congenital Heart Disease Incidence among Chinese Han People.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Development and evolution of the metazoan heart.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Review
- Prediction of putative small molecules for manipulation of enriched signalling pathways in hESC-derived early cardiovascular progenitors by bioinformatics analysis.IET systems biology · 2019Article
- Establishment of A Protocol for In Vitro Culture of Cardiogenic Mesodermal Cells Derived from Human Embryonic Stem Cells.Cell journal · 2019Article
- A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.Journal of translational medicine · 2018Article
- A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle.Pediatric cardiology · 2018Article
- TBX1 loss-of-function mutation contributes to congenital conotruncal defects.Experimental and therapeutic medicine · 2018Article
- Earlier and broader roles of Mesp1 in cardiovascular development.Cellular and molecular life sciences : CMLS · 2017Review
- HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.Pediatric cardiology · 2017Article
- MEF2C loss-of-function mutation contributes to congenital heart defects.International journal of medical sciences · 2017Article
- TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.International journal of medical sciences · 2017Article
- Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.PLoS biology · 2016Article
- How Mesp1 makes a move.The Journal of cell biology · 2016Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Identifying the genetic etiology of congenital heart disease (CHD) has been challenging despite being one of the most common congenital malformations in humans. We previously identified a microdeletion in a patient with a ventricular septal defect containing over 40 genes including MESP1 (mesoderm posterior basic helix-loop-helix transcription factor 1). Because of the importance of MESP1 as an early regulator of cardiac development in both in vivo and in vitro studies, we tested for MESP1 mutations in 647 patients with congenital conotruncal and related heart defects. We identified six rare, nonsynonymous variants not seen in ethnically matched controls and one likely race-specific nonsynonymous variant. Functional analyses revealed that three of these variants altered activation of transcription by MESP1. Two of the deleterious variants are located within the conserved HLH domain and thus impair the protein-protein interaction of MESP1 and E47. The third deleterious variant was a loss-of-function frameshift mutation. Our results suggest that pathologic variants in MESP1 may contribute to the development of CHD and that additional protein partners and downstream targets could likewise contribute to the wide range of causes for CHD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.