Associated Papers
An integrative approach to identify novel miRNA-mRNA interaction networks in LMNA-cardiomyopathy.
Córdoba-Caballero J et al.
Scientific Reports, 2026
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
Extensive cardiac involvement in laminopathies diagnosed in pediatric-aged patients: A single-center study.
Hayes EA et al.
Heart Rhythm, 2025
Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.
Zielińska A et al.
Cells, 2025
A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Mohar NP et al.
Science Advances, 2025
Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.
Petrini S et al.
International Journal of Molecular Sciences, 2024
Optimized simple culture protocol for inducing mature myotubes from MYOD1-overexpressed human iPS cells.
Wada E et al.
Scientific Reports, 2024
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 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
Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.
Storey EC et al.
Neuromuscular Disorders : Nmd, 2024
[Developmental of a Support System for the Genetic Diagnosis and Counseling of Rare Disease].
Kim GH et al.
Jugan Geon-gang Gwa Jilbyeong, 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
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
Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.
Chatzifrangkeskou M et al.
American Journal of Physiology. Cell Physiology, 2023
3D human induced pluripotent stem cell-derived bioengineered skeletal muscles for tissue, disease and therapy modeling.
Pinton L et al.
Nature Protocols, 2023
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.
Cesar S et al.
Frontiers in Cell and Developmental Biology, 2023
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar S et al.
Frontiers in Genetics, 2023
Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.
Kim HJ et al.
Frontiers in Cell and Developmental Biology, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 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
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
Modulation of muscle redox and protein aggregation rescues lethality caused by mutant lamins.
Coombs GS et al.
Redox Biology, 2021
In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies.
Hinz BE et al.
International Journal of Molecular Sciences, 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
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R et al.
Brain Communications, 2021
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.
Fan Y et al.
Journal of Medical Genetics, 2021
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Owens DJ et al.
International Journal of Molecular Sciences, 2020
Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2020
Consequences of Lmna Exon 4 Mutations in Myoblast Function.
Gómez-Domínguez D et al.
Cells, 2020
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.
Earle AJ et al.
Nature Materials, 2020
Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.
Bertrand AT et al.
Cells, 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
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
Choi SA et al.
Muscle & Nerve, 2019
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 2019
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2019
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.
Lin HT et al.
Chinese Medical Journal, 2018
Lamins and bone disorders: current understanding and perspectives.
Gargiuli C et al.
Oncotarget, 2018