Associated Papers
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Transposition of the Great Arteries With Intact Ventricular Septum and Fetal-Onset Dilated Cardiomyopathy in a Neonate With a Homozygous NEXN Variant.
Geer D et al.
Case Reports in Pediatrics, 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
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
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
Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus.
Peng Y et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B et al.
Plos One, 2017
Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis.
Aherrahrou Z et al.
Basic Research in Cardiology, 2016
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
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