Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.G650del1
Back to variants list

NEXN

NM_144573.4:p.G650del1

Associated Papers

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

Perotto M et al.

Jacc. Heart Failure, 2025

Nexilin mutations, a cause of chronic heart failure: A state-of-the-art review starting from a clinical case.

Năstasie OC et al.

World Journal of Cardiology, 2025

Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.

Rahimzadeh M et al.

Heart Failure Reviews, 2024

Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.

Picciolli I et al.

Italian Journal of Pediatrics, 2024

In vivo rescue of genetic dilated cardiomyopathy by systemic delivery of nexilin.

Shao Y et al.

Genome Biology, 2024

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

Hermida A et al.

Circulation. Genomic and Precision Medicine, 2024

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

Johansson J et al.

American Journal of Medical Genetics. Part A, 2022

Titin M-line insertion sequence 7 is required for proper cardiac function in mice.

Biquand A et al.

Journal of Cell Science, 2021

Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case.

Bruyndonckx L et al.

American Journal of Medical Genetics. Part A, 2021

A unique case of left ventricle apical hypoplasia presenting with a type 1 Brugada ECG pattern and NEXN mutation. Are they related?

Marinelli A et al.

Heartrhythm Case Reports, 2021

Homozygous G650del nexilin variant causes cardiomyopathy in mice.

Liu C et al.

Jci Insight, 2020

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

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

Wang H et al.

American Journal of Human Genetics, 2010

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.

Hassel D et al.

Nature Medicine, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."