Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Tirzepatide for Lipodystrophy.
Meral R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models.
Wu XY et al.
Pharmaceuticals (basel, Switzerland), 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
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
Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations.
Le Dour C et al.
Nature Communications, 2022
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
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Vasandani C et al.
Journal of the Endocrine Society, 2022
Regulation of Lipid Metabolism by Lamin in Mutation-Related Diseases.
Peng Y et al.
Frontiers in Pharmacology, 2022
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Campos JTAM et al.
Genetics and Molecular 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
Cardiac phenotype in familial partial lipodystrophy.
Eldin AJ et al.
Clinical Endocrinology, 2021
A very long-term observation of a family with dilated cardiomyopathy and overlapping phenotype from lamin A/C mutation.
Porcu M et al.
Journal of Cardiovascular Medicine (hagerstown, Md.), 2021
Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies.
Liu SY et al.
Nucleus (austin, Tex.), 2020
Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation.
Lin EW et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Mosbah H et al.
Cells, 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
Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation.
Vignier N et al.
Human Molecular Genetics, 2018
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.
Chatzifrangkeskou M et al.
Human Molecular Genetics, 2018
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
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
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort.
Ajluni N et al.
Clinical Endocrinology, 2017
Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene.
Le Dour C et al.
Human Molecular Genetics, 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
Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).
Finsterer J et al.
International Journal of Cardiology, 2016
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.
Zhao Y et al.
Biomed Research International, 2015
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.
Weterings AA et al.
Atherosclerosis, 2013
Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.
Türk M et al.
Neuromuscular Disorders : Nmd, 2013
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
Carboni N et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.
Muchir A et al.
Human Molecular Genetics, 2012
MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy.
Sylvius N et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
LOVD v.2.0: the next generation in gene variant databases.
Fokkema IF et al.
Human Mutation, 2011
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.
Saha B et al.
Molecular Syndromology, 2010
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
Subramanyam L et al.
Clinical Genetics, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genotype-phenotype correlations in laminopathies: how does fate translate?
Scharner J et al.
Biochemical Society Transactions, 2010
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
Carboni N et al.
Muscle & Nerve, 2010
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.
Méjat A et al.
The Journal of Cell Biology, 2009
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
Araújo-Vilar D et al.
Clinical Endocrinology, 2008
Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.
Song K et al.
Experimental & Molecular Medicine, 2007
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.
Morel CF et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Nuclear lamins: laminopathies and their role in premature ageing.
Broers JL et al.
Physiological Reviews, 2006