Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.
Micolonghi C et al.
International Journal of Molecular Sciences, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen J et al.
Orphanet Journal of Rare Diseases, 2022
Deficiency in nebulin repeats of sarcomeric nebulette is detrimental for cardiomyocyte tolerance to exercise and biomechanical stress.
Vejandla RM et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2021
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
Hernandez DA et al.
Molecular Biology of the Cell, 2016
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.
Nouhravesh N et al.
Molecular Genetics & Genomic Medicine, 2016
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.
Perrot A et al.
Archives of Medical Science : Ams, 2016
Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers.
Mastrototaro G et al.
Cardiovascular Research, 2015
Roles of Nebulin Family Members in the Heart.
Bang ML et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy.
Maiellaro-Rafferty K et al.
Journal of Molecular and Cellular Cardiology, 2013
Genetics of sudden cardiac death syndromes.
Chopra N et al.
Current Opinion in Cardiology, 2011
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.
Purevjav E et al.
Journal of the American College of Cardiology, 2010
Nebulette mutations in cardiac remodeling: big effects from a small mechanosensor.
Ram R et al.
Journal of the American College of Cardiology, 2010