Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.D300E
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LMNA

NM_170707.4:p.D300E

Associated Papers

Deletion of the Lmna gene in fibroblasts causes senescence-associated dilated cardiomyopathy by activating the double-stranded DNA damage response and induction of senescence-associated secretory phenotype.

Rouhi L et al.

The Journal of Cardiovascular Aging, 2022

Haploinsufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a late-onset senescence-associated pro-fibrotic cardiomyopathy.

Rouhi L et al.

Cardiovascular Research, 2021

Clinical Interpretation and Management of Genetic Variants.

Marian AJ

Jacc. Basic to Translational Science, 2020

BET bromodomain inhibition attenuates cardiac phenotype in myocyte-specific lamin A/C-deficient mice.

Auguste G et al.

The Journal of Clinical Investigation, 2020

Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies.

Marian AJ et al.

Cardiovascular Research, 2020

Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene.

Marian AJ

Bmc Medical Genetics, 2017

The enigma of genetics etiology of atherosclerosis in the post-GWAS era.

Marian AJ

Current Atherosclerosis Reports, 2012

Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

Rodriguez G et al.

Circulation. Cardiovascular Genetics, 2011

Strategic approaches to unraveling genetic causes of cardiovascular diseases.

Marian AJ et al.

Circulation Research, 2011

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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."