Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
41509423 (PubMed )
Supplement: media-2.xlsx › mRNA_expression
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
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Ghosh DK et al.
Aging Cell, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
31840275 (PubMed )
Supplement: MUS-61-436-s001.docx
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells.
Piekarowicz K et al.
Chromosoma, 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
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study.
Banerjee A et al.
International Journal of Cardiology. Heart & Vasculature, 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
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
Vytopil M et al.
Journal of Medical Genetics, 2003
Select a paper to view details