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Journal of Cardiovascular Translational Research

17-04-2024 | Left Bundle Branch Block | Short Communication

LMNA p.Arg624His Variant Reduces Lamin Expression at mRNA Level: Elucidating Molecular Pathways toward Cardiac Involvement in Laminopathies

Authors: Isabel Jimenez-Alcantara, Estefania Lozano-Velasco, Sheila Caño-Carrillo, Juan Manuel Castillo-Casas, Ana Belen Garcia-Ruano, Jose Maria Segura-Aumente, Jose Angel Urbano-Moral, Diego Franco

Published in: Journal of Cardiovascular Translational Research

Graphical Abstract

Hershberger RE, Jordan E. LMNA-Related Dilated Cardiomyopathy. In: Gene Reviews [Internet]. University of Washington, Seattle; 2008 June 12 [updated 2022 March 17]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1674/#top. Accessed 2-9-24.

Zahr HC, Jaalouk DE. Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy. Front Genet. 2018;9. https://doi.org/10.3389/fgene.2018.00231.

Narula N, Favalli V, Tarantino P, Grasso M, Pilotto A, Bellazzi R, et al. Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy. J Am Coll Cardiol. 2012;60:1916–20. https://doi.org/10.1016/j.jacc.2012.05.059.CrossRefPubMed

Kato K, Ohno S, Sonoda K, Fukuyama M, Makiyama T, Ozawa T, et al. LMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy. Circ Genom Precis Med. 2020;13:435–43. https://doi.org/10.1161/CIRCGEN.119.002853.CrossRefPubMed

Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, et al. Variant interpretation for dilated cardiomyopathy: refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. Circulation: Genomic and Precision Medicine. 2020;13(4):e002480. https://doi.org/10.1161/CIRCGEN.119.002480.

Title: LMNA p.Arg624His Variant Reduces Lamin Expression at mRNA Level: Elucidating Molecular Pathways toward Cardiac Involvement in Laminopathies
Authors: Isabel Jimenez-Alcantara
Estefania Lozano-Velasco
Sheila Caño-Carrillo
Juan Manuel Castillo-Casas
Ana Belen Garcia-Ruano
Jose Maria Segura-Aumente
Jose Angel Urbano-Moral
Diego Franco
Publication date: 17-04-2024
Publisher: Springer US
Keywords: Left Bundle Branch Block
Cardiomyopathy
Published in: Journal of Cardiovascular Translational Research
Print ISSN: 1937-5387
Electronic ISSN: 1937-5395
DOI: https://doi.org/10.1007/s12265-024-10512-y

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LMNA p.Arg624His Variant Reduces Lamin Expression at mRNA Level: Elucidating Molecular Pathways toward Cardiac Involvement in Laminopathies

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ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

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