Varaico: Literature-Extracted Genetic Variants

Gene:LMOD2
Variant:p.W398*
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LMOD2

NM_207163.3:p.W398*

Associated Papers

Interaction of cardiac leiomodin with the native cardiac thin filament.

Little M et al.

Plos Biology, 2025

Leiomodin 2 neonatal dilated cardiomyopathy mutation results in altered actin gene signatures and cardiomyocyte dysfunction.

Iwanski JB et al.

Npj Regenerative Medicine, 2024

Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay.

Pappas CT et al.

Plos Genetics, 2024

Lmod2 is necessary for effective skeletal muscle contraction.

Larrinaga TM et al.

Science Advances, 2024

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.

Keisling J et al.

The Journal of Pediatrics, 2024

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.

Sono R et al.

Cells, 2023

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM1_ESM.pdf

LMOD2-related dilated cardiomyopathy presenting in late infancy.

Lay E et al.

American Journal of Medical Genetics. Part A, 2022

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.

Yuen M et al.

European Journal of Human Genetics : Ejhg, 2022

Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy.

Greenway SC et al.

Cjc Open, 2021

Redefining actin dynamics of the pointed-end complex in striated muscle.

Iwanski J et al.

Trends in Cell Biology, 2021

In vivo elongation of thin filaments results in heart failure.

Mi-Mi L et al.

Plos One, 2020

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.

Ahrens-Nicklas RC et al.

Science Advances, 2019

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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."