Associated Papers
Oxidative stress-driven transcriptomic remodeling in human astrocytes reveals network signatures associated with neurodegenerative and cardiovascular processes.
Bota PM et al.
Computational and Structural Biotechnology Journal, 2026
Optimized simple culture protocol for inducing mature myotubes from MYOD1-overexpressed human iPS cells.
Wada E et al.
Scientific Reports, 2024
Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.
Storey EC et al.
Neuromuscular Disorders : Nmd, 2024
An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.
Chang L et al.
Bmc Medical Genomics, 2023
SUMO protease SENP6 protects the nucleus from hyperSUMOylation-induced laminopathy-like alterations.
Liczmanska M et al.
Cell Reports, 2023
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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Owens DJ et al.
International Journal of Molecular Sciences, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Lamin Mutations Cause Increased YAP Nuclear Entry in Muscle Stem Cells.
Owens DJ et al.
Cells, 2020
Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.
Baban A et al.
Frontiers in Pediatrics, 2020
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells.
Janin A et al.
Scientific Reports, 2018
Deregulation of focal adhesion formation and cytoskeletal tension due to loss of A-type lamins.
Corne TDJ et al.
Cell Adhesion & Migration, 2017
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
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.
Ziat E et al.
Journal of Neuromuscular Diseases, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
Bertrand AT et al.
Journal of Cell Science, 2014
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Quijano-Roy S et al.
Annals of Neurology, 2008