Varaico: Literature-Extracted Genetic Variants

Gene:NEBL
Variant:p.Q128R
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NEBL

NM_006393.3:p.Q128R

Associated Papers

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

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

Noureddine M et al.

Frontiers in Physiology, 2023

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

Intermediate filaments in cardiomyopathy.

Tsikitis M et al.

Biophysical Reviews, 2018

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

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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."