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Article

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

American journal of human genetics - 12 Nov 2010

Wang Hu, Li Zhaohui, Wang Jizheng, Sun Kai, Cui Qiqiong, Song Lei, Zou Yubao, Wang Xiaojian, Liu Xuan, Hui Rutai, Fan Yuxin

Abstract excerpt

Hypertrophic cardiomyopathy (HCM), the most common inherited cardiac disorder, is characterized by increased ventricular wall thickness that cannot be explained by underlying conditions, cadiomyocyte hypertrophy and disarray, and increased myocardial fibrosis. In as many as 50% of HCM cases, the genetic cause remains unknown, suggesting that more genes may be involved. Nexilin, encoded by NEXN, is a cardiac...

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Identifiers

PMID: 20970104
DOI: 10.1016/j.ajhg.2010.10.002
PMCID: PMC2978958

Genes

NEXN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.PMID 20970104Read ↗

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.Semantic proximity Read ↗

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.Semantic proximity Read ↗

Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study.Semantic proximity Read ↗

Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.Semantic proximity Read ↗

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.Semantic proximity Read ↗

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosisSemantic proximity Read ↗

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.Semantic proximity Read ↗

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathiesSemantic proximity Read ↗

Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.Semantic proximity Read ↗

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.Semantic proximity Read ↗

NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.Semantic proximity Read ↗

CRISPR/Cas9-mediated nexilin deficiency interferes with cardiac contractile function in zebrafish in vivoSemantic proximity Read ↗

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