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
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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
34862408 (PubMed )
Supplement: 41525_2021_265_MOESM1_ESM.pdf
The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype.
Crasto S et al.
Frontiers in Physiology, 2020
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 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
Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).
Finsterer J et al.
International Journal of Cardiology, 2016
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.
Saga A et al.
The Tohoku Journal of Experimental Medicine, 2009
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
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