Associated Papers
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
Homozygous LMNA c.1579C>T mutation manifesting as mandibuloacral dysplasia type A in a pediatric patient.
He S et al.
Indian Journal of Dermatology, Venereology and Leprology, 2025
Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.
Bauer R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Founder Pathogenic Variant in LMNA and Its Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
Manav Yigit Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Late outcomes of congenital and childhood non-immune, isolated atrioventricular block: a French nationwide retrospective cohort study.
Mycinski F et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
MAM-STAT3-Driven Mitochondrial Ca+2 Upregulation Contributes to Immunosenescence in Type A Mandibuloacral Dysplasia Patients.
Padhiar AA et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 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
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.
Fu X et al.
Frontiers in Endocrinology, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.
Carvalho AA et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 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
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Multi-omic analysis of mandibuloacral dysplasia type A patient iPSC-derived MSC senescence reveals miR-311 as a novel biomarker for MSC senescence.
He L et al.
Human Molecular Genetics, 2023
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A et al.
American Journal of Medical Genetics. Part A, 2023
Arrhythmogenic cardiomyopathy is under-recognized in end-stage pediatric heart failure: A 36-year single-center experience.
Tadros HJ et al.
Pediatric Transplantation, 2023
The Molecular and Cellular Basis of Hutchinson-Gilford Progeria Syndrome and Potential Treatments.
Batista NJ et al.
Genes, 2023
The Nuclear Envelope in Ageing and Progeria.
Fragoso-Luna A et al.
Sub-cellular Biochemistry, 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
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 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
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions.
Doanh LH et al.
Jaad Case Reports, 2021
Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.
Jéru I et al.
Genes, 2021
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant.
Araújo-Vilar D et al.
Journal of Clinical Medicine, 2021
Mandibuloacral dysplasia type A in five tunisian patients.
R S et al.
European Journal of Medical Genetics, 2021
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.
Turkyilmaz A et al.
Clinical Dysmorphology, 2021
Interleukin-6 neutralization ameliorates symptoms in prematurely aged mice.
Squarzoni S et al.
Aging Cell, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.
D'Apice MR et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
Pathogenic mutations in genes encoding nuclear envelope proteins and defective nucleocytoplasmic connections.
Östlund C et al.
Experimental Biology and Medicine (maywood, N.j.), 2019
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Tissue-Specific Influence of Lamin A Mutations on Notch Signaling and Osteogenic Phenotype of Primary Human Mesenchymal Cells.
Perepelina K et al.
Cells, 2019
The Cutting Edge: The Role of mTOR Signaling in Laminopathies.
Chiarini F et al.
International Journal of Molecular Sciences, 2019
Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.
Piekarowicz K et al.
Cells, 2019
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
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
Roca I et al.
International Journal of Molecular Sciences, 2018