Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.G449V
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LMNA

NM_170707.4:p.G449V

Associated Papers

Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.

Zielińska A et al.

Cells, 2025

A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.

Mohar NP et al.

Science Advances, 2025

Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies.

Bhide S et al.

Genes, 2024

Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.

Anderson CL et al.

Journal of Proteome Research, 2024

Nuclear damage in LMNA mutant iPSC-derived cardiomyocytes is associated with impaired lamin localization to the nuclear envelope.

Wallace M et al.

Molecular Biology of the Cell, 2023

Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.

Kim HJ et al.

Frontiers in Cell and Developmental Biology, 2023

Slower diffusion and anomalous association of R453W lamin A protein alter nuclear architecture in AD-EDMD.

Mukherjee C et al.

Rsc Advances, 2022

Effects of mutant lamins on nucleo-cytoskeletal coupling in Drosophila models of LMNA muscular dystrophy.

Shaw NM et al.

Frontiers in Cell and Developmental Biology, 2022

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

Modulation of muscle redox and protein aggregation rescues lethality caused by mutant lamins.

Coombs GS et al.

Redox Biology, 2021

A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Anderson CL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.

Earle AJ et al.

Nature Materials, 2020

Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling.

Chandran S et al.

Human Molecular Genetics, 2019

Skeletal Muscle Dystrophy mutant of lamin A alters the structure and dynamics of the Ig fold domain.

Dutta S et al.

Scientific Reports, 2018

Increasing autophagy and blocking Nrf2 suppress laminopathy-induced age-dependent cardiac dysfunction and shortened lifespan.

Bhide S et al.

Aging Cell, 2018

Invertebrate models of lamin diseases.

Rzepecki R et al.

Nucleus (austin, Tex.), 2018

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.

Dialynas G et al.

Plos Genetics, 2015

Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

Scharner J et al.

Proteins, 2014

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.

Dialynas G et al.

Human Molecular Genetics, 2012

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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."