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
Modeling the contribution of cardiac fibroblasts in dilated cardiomyopathy using induced pluripotent stem cells.
Mazarura GR et al.
Molecular Pharmacology, 2025
Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.
Chatzifrangkeskou M et al.
American Journal of Physiology. Cell Physiology, 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
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy.
Nguyen TV et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2021
PALB2 Variants: Protein Domains and Cancer Susceptibility.
Nepomuceno TC et al.
Trends in Cancer, 2021
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Yang J et al.
Frontiers in Physiology, 2021
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
31840275 (PubMed )
Supplement: MUS-61-436-s001.docx
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome.
Shilo A et al.
Nucleic Acids Research, 2019
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
Lombardi F et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
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