Associated Papers
DNA damage and repair in cardiomyopathy: mechanisms and therapeutic opportunities.
Zhou X et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2026
High-Throughput Methods for Variant Functional Assessment in Cardiac Disease.
Dolder RE et al.
Circulation. Genomic and Precision Medicine, 2026
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 2025
Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients.
Nuzhnaya E et al.
Genes, 2025
Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.
Zhou X et al.
Biogerontology, 2025
Dilated cardiomyopathy: from genes and molecules to potential treatments.
Wang X et al.
Molecular and Cellular Biochemistry, 2025
Phenotypic diversity of the LMNA mutations.
Marian AJ
Current Opinion in Cardiology, 2025
Causes and consequences of DNA double-stranded breaks in cardiovascular disease.
Marian AJ
Molecular and Cellular Biochemistry, 2025
Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.
Anderson CL et al.
Journal of Proteome Research, 2024
From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy.
Veltrop RJA et al.
Cell Communication and Signaling : Ccs, 2024
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Tiwari V et al.
Life Sciences, 2024
Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.
Wu HW et al.
Journal of Cardiovascular Development and Disease, 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
The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.
Odinammadu KO et al.
Nucleus (austin, Tex.), 2023
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
A genomic data archive from the Network for Pancreatic Organ donors with Diabetes.
Perry DJ et al.
Scientific Data, 2023
Deficient Lmna in fibroblasts: an emerging role of non-cardiomyocytes in DCM.
Wang X et al.
The Journal of Cardiovascular Aging, 2022
Genetic predisposition study of heart failure and its association with cardiomyopathy.
Kaviarasan V et al.
The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2022
Regulation of Lipid Metabolism by Lamin in Mutation-Related Diseases.
Peng Y et al.
Frontiers in Pharmacology, 2022
Genetic basis of cardiovascular aging is at the core of human longevity.
Marian AJ
The Journal of Cardiovascular Aging, 2022
Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.
Jang S et al.
Frontiers in Pediatrics, 2022
Preclinical Advances of Therapies for Laminopathies.
Benarroch L et al.
Journal of Clinical 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
Role of Cdkn2a in the Emery-Dreifuss Muscular Dystrophy Cardiac Phenotype.
Pegoli G et al.
Biomolecules, 2021
Integrated analysis reveals the alterations that LMNA interacts with euchromatin in LMNA mutation-associated dilated cardiomyopathy.
Zhang X et al.
Clinical Epigenetics, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Nuclear Factor-κB Pathway Mediates the Molecular Pathogenesis of LMNA-Related Muscular Dystrophies.
Fan Y et al.
Biochemical Genetics, 2020
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
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
RNA Sequence Analyses throughout the Course of Mouse Cardiac Laminopathy Identify Differentially Expressed Genes for Cell Cycle Control and Mitochondrial Function.
Shao Z et al.
Scientific Reports, 2020
Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy.
Mahdi L et al.
Acg Case Reports Journal, 2020
Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.
Kandhaya-Pillai R et al.
Aging Pathobiology and Therapeutics, 2020
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.
He G et al.
Endocrine Journal, 2019
Lamin A/C Cardiomyopathy: Implications for Treatment.
Chen SN et al.
Current Cardiology Reports, 2019
Single molecule analysis of lamin dynamics.
Serebryannyy LA et al.
Methods (san Diego, Calif.), 2019
DNA Damage Response/TP53 Pathway Is Activated and Contributes to the Pathogenesis of Dilated Cardiomyopathy Associated With LMNA (Lamin A/C) Mutations.
Chen SN et al.
Circulation Research, 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
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Sanyoura M et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.
Zaragoza MV et al.
Cells, 2017
Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene.
Marian AJ
Bmc Medical 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
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Soria-Valles C et al.
Journal of Medical Genetics, 2016
Lamin Mutations Accelerate Aging via Defective Export of Mitochondrial mRNAs through Nuclear Envelope Budding.
Li Y et al.
Current Biology : Cb, 2016
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation.
Motegi S et al.
Experimental Dermatology, 2016