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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient.
Perepelina K et al.
Frontiers in Cardiovascular Medicine, 2022
Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.
Ignatieva E et al.
International Journal of Molecular Sciences, 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
LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile.
Ignatieva EV et al.
Genes, 2020
Targeted Regulation of Nuclear Lamins by Ubiquitin and Ubiquitin-Like Modifiers.
Blank M
Cells, 2020
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Genomic instability and innate immune responses to self-DNA in progeria.
Gonzalo S et al.
Geroscience, 2019
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
E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms.
Krishnamoorthy V et al.
Biochemical and Biophysical Research Communications, 2018
E3 ubiquitin ligase HECW2 targets PCNA and lamin B1.
Krishnamoorthy V et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 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
E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins.
Khanna R et al.
The Febs Journal, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 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
[Nuclear lamins regulate osteogenic differentiation of mesenchymal stem cells].
Bogdanova MA et al.
Tsitologiia, 2014
Lamin misexpression upregulates three distinct ubiquitin ligase systems that degrade ATR kinase in HeLa cells.
Muralikrishna B et al.
Molecular and Cellular Biochemistry, 2012
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
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
Role of A-type lamins in signaling, transcription, and chromatin organization.
Andrés V et al.
The Journal of Cell Biology, 2009
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 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
Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease.
Arbustini EA et al.
Human Genetics, 2005
Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.
Arbustini Eloisa AE et al.
Human Genetics, 2005
[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
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
Arbustini E et al.
Journal of the American College of Cardiology, 2002
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A et al.
European Journal of Human Genetics : Ejhg, 2002
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Brown CA et al.
American Journal of Medical Genetics, 2001
Mutations in the LMNA gene encoding lamin A/C.
Genschel J et al.
Human Mutation, 2000
Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner.
Malashicheva A et al.
Molecular Genetics and Metabolism, 0
THE ROLE OF LMNA MUTATIONS IN MYOGENIC DIFFERENTIATION OF PRIMARY SATELLITE CELLS AND C2C12 CELLS.
Perepelina KI et al.
Tsitologiia, 0