Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.H506D
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LMNA

NM_170707.4:p.H506D

Associated Papers

Cryo-EM structures of the BAF-Lamin A/C complex bound to nucleosomes.

Horikoshi N et al.

Nature Communications, 2025

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

Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.

Pande S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental 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

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

Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.

Teboul-Coré S et al.

Skeletal Radiology, 2016

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

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

Nuclear lamins and oxidative stress in cell proliferation and longevity.

Shimi T et al.

Advances in Experimental Medicine and Biology, 2014

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Carboni N et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013

LMNA mutations induce a non-inflammatory fibrosis and a brown fat-like dystrophy of enlarged cervical adipose tissue.

Béréziat V et al.

The American Journal of Pathology, 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."