Associated Papers
Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health.
Torfs T et al.
Current Heart Failure Reports, 2026
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 2025
Identification and Validation of Novel Lactylation-Related Gene Signature in Dilated Cardiomyopathy.
Liu J et al.
Archiv Der Pharmazie, 2025
Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy.
Zhuo W et al.
International Journal of Cardiology, 2025
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
Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.
Anderson CL et al.
Journal of Proteome Research, 2024
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Tiwari V et al.
Life Sciences, 2024
The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation-Related Lipodystrophy.
Xiao C et al.
Advanced Biology, 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
Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.
Gregory EF et al.
Plos Genetics, 2023
Perinuclear damage from nuclear envelope deterioration elicits stress responses that contribute to LMNA cardiomyopathy.
Sikder K et al.
Biorxiv : the Preprint Server for Biology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Characterization of cardiac involvement in patients with LMNA splice-site mutation-related dilated cardiomyopathy and sudden cardiac death.
Ling X et al.
Frontiers in Genetics, 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
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.
Resdal Dyssekilde J et al.
Journal of the American Heart Association, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations.
Yang J et al.
Frontiers in Physiology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Identification of Target Genes and Transcription Factors in Mice with LMNA-Related Dilated Cardiomyopathy by Integrated Bioinformatic Analyses.
Zhou H et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2020
Expression of connexin-43 in the cardiac muscle of children diagnosed with hypoplastic left heart syndrome: a Western blot and confocal laser scanning microscopy study.
Lodi FR et al.
Cardiology in the Young, 2020
Lamin A/C Cardiomyopathy: Implications for Treatment.
Chen SN et al.
Current Cardiology Reports, 2019
Lamin A molecular compression and sliding as mechanisms behind nucleoskeleton elasticity.
Makarov AA et al.
Nature Communications, 2019
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 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
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.
Lin XF et al.
Molecular Medicine Reports, 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
Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies.
Gerbino A et al.
Frontiers in Physiology, 2018
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs.
Brayson D et al.
Nucleus (austin, Tex.), 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
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects.
Gerbino A et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2017
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
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
Role of nuclear Lamin A/C in cardiomyocyte functions.
Carmosino M et al.
Biology of the Cell, 2014
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.
Liu J et al.
Current Gene Therapy, 2012
LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.
Lu D et al.
Plos One, 2010
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.
Sun LP et al.
Chinese Medical Journal, 2010
Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.
Wu X et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2010
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
[Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells].
Wang H et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2007
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
Wang H et al.
Biochemical and Biophysical Research Communications, 2006
[A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].
Wang H et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2005
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0