Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L387V
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LMNA

NM_170707.4:p.L387V

Associated Papers

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

Besci O et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

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

Kim HJ et al.

Frontiers in Cell and Developmental Biology, 2023

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.

Campos JTAM et al.

Genetics and Molecular Biology, 2022

Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.

Araújo de Melo Campos JT et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Fan Y et al.

Journal of Medical Genetics, 2021

Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy.

Le Dour C et al.

Journal of Lipid Research, 2017

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.

Barateau A et al.

Plos One, 2017

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

LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.

Tu Y et al.

Nucleus (austin, Tex.), 2016

Nuclear lamins and oxidative stress in cell proliferation and longevity.

Shimi T et al.

Advances in Experimental Medicine and Biology, 2014

Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence.

Caron M et al.

Cell Death and Differentiation, 2007

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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."