Associated Papers
Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.
Zielińska A et al.
Cells, 2025
Evaluation of lamin A/C mechanotransduction under different surface topography in LMNA related muscular dystrophy.
Dutta S et al.
Cytoskeleton (hoboken, N.j.), 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
Investigating the differential structural organization and gene expression regulatory networks of lamin A Ig fold domain mutants of muscular dystrophy.
Dutta S et al.
The Biochemical Journal, 2024
Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.
Kim HJ et al.
Frontiers in Cell and Developmental Biology, 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
Slower diffusion and anomalous association of R453W lamin A protein alter nuclear architecture in AD-EDMD.
Mukherjee C et al.
Rsc Advances, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 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
Recent insight into intermediate filament structure.
Eldirany SA et al.
Current Opinion in Cell Biology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.
Anderson CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.
Earle AJ et al.
Nature Materials, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Skeletal Muscle Dystrophy mutant of lamin A alters the structure and dynamics of the Ig fold domain.
Dutta S et al.
Scientific Reports, 2018
Invertebrate models of lamin diseases.
Rzepecki R et al.
Nucleus (austin, Tex.), 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
Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.
Dialynas G et al.
Plos Genetics, 2015
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.
Tan D et al.
Plos One, 2015
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
Dialynas G et al.
Human Molecular Genetics, 2012
Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
Mitsuhashi H et al.
Journal of Cell Science, 2010