ArticleFrontiers in cardiovascular medicine2023
A novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy.
Article in Frontiers in cardiovascular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 9 citations in OpenAlex.
- Article
- Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Transcriptomic profiling of cardiac development in Bama Xiang pigs across key developmental stages.Zoological research · 2025Article
- Integrated Phenotypic and Transcriptomic Analyses of Osteoporosis in Type 2 Diabetic Mice.International journal of medical sciences · 2025Article
- Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.Nature cardiovascular research · 2023Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
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Abstract
Background: The nebulin-related-anchoring protein ( Methods: The clinical data of the rare case of left ventricular non-compaction (LVNC) were collected and analyzed. Whole-exome sequencing (WES) was performed on related family members. Western blot was used to detect the effect of mutation on the Results: A novel homozygous frameshift mutation c.259delC of Conclusion: We identified a rare case of LVNC associated with a novel homozygous NRAP frameshift variant. This study further strengthened the evidence linking mutations in the NRAP gene with LVNC, providing a new clue for further study of LVNC. NRAP may be one of the pathogenic genes of cardiomyopathy.
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