Associated Papers
Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.
Zielińska A et al.
Cells, 2025
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.
Politano L
International Journal of Molecular Sciences, 2024
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
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
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2019
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 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
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy.
Hong G et al.
Journal of Genetics, 2014
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
Scharner J et al.
Proteins, 2014
A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females.
Chen W et al.
Molecular and Cellular Biochemistry, 2013
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
Zwerger M et al.
Human Molecular Genetics, 2013
Role of A-type lamins in signaling, transcription, and chromatin organization.
Andrés V et al.
The Journal of Cell Biology, 2009
A comparative study of Drosophila and human A-type lamins.
Schulze SR et al.
Plos One, 2009
Does satellite cell dysfunction contribute to disease progression in Emery-Dreifuss muscular dystrophy?
Gnocchi VF et al.
Biochemical Society Transactions, 2008
Proteins that associate with lamins: many faces, many functions.
Schirmer EC et al.
Experimental Cell Research, 2007
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.
Liang WC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007
Laminopathies: multiple disorders arising from defects in nuclear architecture.
Parnaik VK et al.
Journal of Biosciences, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.
Boguslavsky RL et al.
Human Molecular Genetics, 2006
Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.
Frock RL et al.
Genes & Development, 2006
Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.
Otomo J et al.
Journal of Cardiovascular Electrophysiology, 2005
Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro.
Markiewicz E et al.
Journal of Cell Science, 2005
Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.
Holt I et al.
Journal of Cell Science, 2003
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
Taylor MR et al.
Journal of the American College of Cardiology, 2003
[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
Hanisch F et al.
Der Nervenarzt, 2002
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.
Krimm I et al.
Structure (london, England : 1993), 2002
Structure of the globular tail of nuclear lamin.
Dhe-Paganon S et al.
The Journal of Biological Chemistry, 2002
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A et al.
European Journal of Human Genetics : Ejhg, 2002
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
Ostlund C et al.
Journal of Cell Science, 2001
Mutations in the LMNA gene encoding lamin A/C.
Genschel J et al.
Human Mutation, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G et al.
Annals of Neurology, 2000