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
Precise gene editing of pathogenic Lamin A mutations corrects cardiac disease.
Caravia XM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Optimized simple culture protocol for inducing mature myotubes from MYOD1-overexpressed human iPS cells.
Wada E et al.
Scientific Reports, 2024
Characteristics of nuclear architectural abnormalities of myotubes differentiated from LmnaH222P/H222P skeletal muscle cells.
Wada E et al.
In Vitro Cellular & Developmental Biology. Animal, 2024
Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.
Pan SW et al.
Scientific Reports, 2024
Nuclear damage in LMNA mutant iPSC-derived cardiomyocytes is associated with impaired lamin localization to the nuclear envelope.
Wallace M et al.
Molecular Biology of the Cell, 2023
3D human induced pluripotent stem cell-derived bioengineered skeletal muscles for tissue, disease and therapy modeling.
Pinton L et al.
Nature Protocols, 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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies.
Vignier N et al.
Cell Reports, 2021
Functional characterization of 84 PALB2 variants of uncertain significance.
Wiltshire T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.
Baban A et al.
Frontiers in Pediatrics, 2020
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2019
Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering.
Maffioletti SM et al.
Cell Reports, 2018
Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations.
Steele-Stallard HB et al.
Frontiers in Physiology, 2018
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
Heller F et al.
Cardiology in the Young, 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
Two children with "dropped head" syndrome due to lamin A/C mutations.
Chemla JC et al.
Muscle & Nerve, 2010
Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation.
Conceição I et al.
Muscle & Nerve, 2010