Associated Papers
Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy.
Dzianisava V et al.
Molecular Therapy. Nucleic Acids, 2025
Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies.
Bhide S et al.
Genes, 2024
Somatic and germinal mosaicism in a Han Chinese family with laminopathies.
Wang G et al.
European Journal of Human Genetics : Ejhg, 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
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
Consequences of Lmna Exon 4 Mutations in Myoblast Function.
Gómez-Domínguez D et al.
Cells, 2020
An Emerin LEM-Domain Mutation Impairs Cell Response to Mechanical Stress.
Essawy N et al.
Cells, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
van Tienen FHJ et al.
European Journal of Human Genetics : Ejhg, 2019
Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decrease DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts.
Bikkul MU et al.
Biogerontology, 2018
Lamin missense mutations-the spectrum of phenotype variability is increasing.
Captur G et al.
European Journal of Heart Failure, 2018
Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes.
Perovanovic J et al.
Physiological Genomics, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Clinical aspects of Emery-Dreifuss muscular dystrophy.
Madej-Pilarczyk A
Nucleus (austin, Tex.), 2018
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET et al.
Circulation. Cardiovascular Genetics, 2017
Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features.
Maggi L et al.
Cells, 2016
Tying up loose ends: telomeres, genomic instability and lamins.
Gonzalo S et al.
Current Opinion in Genetics & Development, 2016
Altering lamina assembly reveals lamina-dependent and -independent functions for A-type lamins.
Zwerger M et al.
Journal of Cell Science, 2015
Lamin A/C-dependent interaction with 53BP1 promotes cellular responses to DNA damage.
Gibbs-Seymour I et al.
Aging Cell, 2015
Sustained accumulation of prelamin A and depletion of lamin A/C both cause oxidative stress and mitochondrial dysfunction but induce different cell fates.
Sieprath T et al.
Nucleus (austin, Tex.), 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
The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.
Al-Saaidi R et al.
Experimental Cell Research, 2013
Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.
Carboni N et al.
Muscle & Nerve, 2013
Defective skeletal muscle growth in lamin A/C-deficient mice is rescued by loss of Lap2α.
Cohen TV et al.
Human Molecular Genetics, 2013
Cytoplasmic localization of PML particles in laminopathies.
Houben F et al.
Histochemistry and Cell Biology, 2013
Lamin A/C haploinsufficiency modulates the differentiation potential of mouse embryonic stem cells.
Sehgal P et al.
Plos One, 2013
Ubiquitin ligase RNF123 mediates degradation of heterochromatin protein 1α and β in lamin A/C knock-down cells.
Chaturvedi P et al.
Plos One, 2012
Conserved cysteine residues in the mammalian lamin A tail are essential for cellular responses to ROS generation.
Pekovic V et al.
Aging Cell, 2011
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.
De Vos WH et al.
Human Molecular Genetics, 2011
LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.
Lu JT et al.
Disease Models & Mechanisms, 2011
Lamins, laminopathies and disease mechanisms: possible role for proteasomal degradation of key regulatory proteins.
Parnaik VK et al.
Journal of Biosciences, 2011
[Laminopathies: one gene, several diseases].
Bertrand AT et al.
Biologie Aujourd'hui, 2011
Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10.
Chaturvedi P et al.
Plos One, 2010
Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.
Gupta P et al.
Basic Research in Cardiology, 2010
Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins.
De Vos WH et al.
Biochimica Et Biophysica Acta, 2010
Genotype-phenotype correlations in laminopathies: how does fate translate?
Scharner J et al.
Biochemical Society Transactions, 2010
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.
Emerson LJ et al.
Biochimica Et Biophysica Acta, 2009
Disturbed nuclear orientation and cellular migration in A-type lamin deficient cells.
Houben F et al.
Biochimica Et Biophysica Acta, 2009
Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.
Geiger SK et al.
Journal of Molecular Medicine (berlin, Germany), 2008
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
Kandert S et al.
Human Molecular Genetics, 2007
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
van Tintelen JP et al.
American Heart Journal, 2007
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins.
Muchir A et al.
Biochemical and Biophysical Research Communications, 2006
Workshop on the nuclear envelope and Emery-Dreifuss muscular dystrophy 29th March 2006, Oswestry, UK.
Natalie Randles K et al.
Neuromuscular Disorders : Nmd, 2006
Laminopathies: multiple disorders arising from defects in nuclear architecture.
Parnaik VK et al.
Journal of Biosciences, 2006