Associated Papers
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Elevated SUN1 promotes migratory cell polarity defects through mechanically coupling microtubules to the nuclear lamina.
Li Y et al.
Communications 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
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 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
Natural history of skeletal muscle laminopathies: a 2-year prospective study.
Santovito LS et al.
Neuromuscular Disorders : Nmd, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Changes in Chromatin Organisation and Mechanotransduction Mediated by Mutant Lamins in Laminopathies.
Nath S et al.
Sub-cellular Biochemistry, 2025
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
Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.
Besci O et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.
Cenni V et al.
Cells, 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
Drosophila Models Reveal Properties of Mutant Lamins That Give Rise to Distinct Diseases.
Walker SG et al.
Cells, 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
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Vasandani C et al.
Journal of the Endocrine Society, 2022
Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.
Boen HM et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2022
Matrix remodeling controls a nuclear lamin A/C-emerin network that directs Wnt-regulated stem cell fate.
Tang Y et al.
Developmental Cell, 2022
Effects of mutant lamins on nucleo-cytoskeletal coupling in Drosophila models of LMNA muscular dystrophy.
Shaw NM et al.
Frontiers in Cell and Developmental Biology, 2022
Gene-editing, immunological and iPSCs based therapeutics for muscular dystrophy.
Singh S et al.
European Journal of Pharmacology, 2021
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2020
PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation.
Santi S et al.
Cells, 2020
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.
Perepelina K et al.
Stem Cell Research, 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
Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.
Piekarowicz K et al.
Cells, 2019
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 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
Inflammatory myopathy in the context of an unusual overlapping laminopathy.
Guillín-Amarelle C et al.
Archives of Endocrinology and Metabolism, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C et al.
Nucleus (austin, Tex.), 2018
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress.
Angori S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 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
Genetic Variations Leading to Familial Dilated Cardiomyopathy.
Cho KW et al.
Molecules and Cells, 2016
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
Seong MW et al.
Clinical Genetics, 2016
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.
Depreux FF et al.
Human Molecular Genetics, 2015
Nuclear lamina remodelling and its implications for human disease.
Chojnowski A et al.
Cell and Tissue Research, 2015
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.
Tan D et al.
Plos One, 2015
First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy.
Hong G et al.
Journal of Genetics, 2014
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
Luo DQ et al.
Bmc Pediatrics, 2014
Laminopathy-inducing mutations reduce nuclear import of expressed prelamin A.
Kiel T et al.
The International Journal of Biochemistry & Cell Biology, 2014