ArticleScientific reports2017
Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Current Update on Categorization of Migraine Subtypes on the Basis of Genetic Variation: a Systematic Review.Molecular neurobiology · 2024Pooled it
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- Transcriptomic profiling of cardiac development in Bama Xiang pigs across key developmental stages.Zoological research · 2025Article
- Uncovering genomic diversity and signatures of selection in red Angus × Chinese red steppe crossbred cattle population.Scientific reports · 2025Article
- Exploring the importance of predicted camel NRAP exon 4 for environmental adaptation using a mouse model.Animal genetics · 2025Article
- Revisiting the role of ischaemia in familial cardiomyopathy: insights from an NRAP gene-related cardiomyopathy.BMJ case reports · 2023Article
- NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.Human molecular genetics · 2023Article
- Global dispersal and adaptive evolution of domestic cattle: a genomic perspective.Stress biology · 2023Review
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- Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.Nature cardiovascular research · 2023Article
- Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes.Computational and structural biotechnology journal · 2023Article
- A novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy.Frontiers in cardiovascular medicine · 2023Article
- Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy.BMC medical genomics · 2022Article
- Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.NPJ genomic medicine · 2022Article
- Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.Heart failure reviews · 2022Review
- Identifying genetic variants for age of migraine onset in a Han Chinese population in Taiwan.The journal of headache and pain · 2021Article
- Demographic History, Adaptation, and NRAP Convergent Evolution at Amino Acid Residue 100 in the World Northernmost Cattle from Siberia.Molecular biology and evolution · 2021Article
- Article
- The intercalated disc: a mechanosensing signalling node in cardiomyopathy.Biophysical reviews · 2020Review
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11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic background of dilated cardiomyopathy is highly heterogeneous, with close to 100 known genes and a number of candidates described to date. Nebulin-related-anchoring protein (NRAP) is an actin-binding cytoskeletal protein expressed predominantly in striated and cardiac muscles, and is involved in myofibrillar assembly in the foetal heart and in force transmission in the adult heart. The homozygous NRAP truncating variant (rs201084642), which is predicted to introduce premature stop codon into all NRAP isoforms, was revealed in the dilated cardiomyopathy patient using whole exome sequencing. The same genotype was detected in the asymptomatic proband's brother. The expression of the NRAP protein was undetectable in the patient's heart muscle by the Western blot. Genotyping for rs201084642 in the ethnically matched cohort of 231 dilated cardiomyopathy patients did not reveal any additional subjects with this variant. Our findings suggest that the biallelic loss-of-function mutation in NRAP could constitute a relatively rare, low-penetrance genetic risk factor for dilated cardiomyopathy.
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