Associated Papers
Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
Hwang M et al.
International Journal of Molecular Sciences, 2026
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
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & Metabolism, 2024
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ et al.
International Journal of Molecular Sciences, 2024
Navigating Lipodystrophy: Insights from Laminopathies and Beyond.
Krüger P et al.
International Journal of Molecular Sciences, 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: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy.
Santos JL et al.
Frontiers in Genetics, 2024
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
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
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Vasandani C et al.
Journal of the Endocrine Society, 2022
Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging.
Trani JP et al.
Life Science Alliance, 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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 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
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.
Magno S et al.
Journal of the Endocrine Society, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.
Cheng L et al.
International Journal of Genomics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
van Tienen FHJ et al.
European Journal of Human Genetics : Ejhg, 2019
Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.
Han M et al.
Human Mutation, 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
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Cenni V et al.
Ageing Research Reviews, 2018
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C et al.
Nucleus (austin, Tex.), 2018
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.
Akinci B et al.
Metabolism: Clinical and Experimental, 2017
The genetics of atrial fibrillation.
Hayashi K et al.
Current Opinion in Cardiology, 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
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.
Tu Y et al.
Nucleus (austin, Tex.), 2016
Genetics of atrial fibrillation: from families to genomes.
Christophersen IE et al.
Journal of Human Genetics, 2016
Prelamin A processing, accumulation and distribution in normal cells and laminopathy disorders.
Casasola A et al.
Nucleus (austin, Tex.), 2016
LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.
Alastalo TP et al.
Human Mutation, 2015
Nuclear lamina remodelling and its implications for human disease.
Chojnowski A et al.
Cell and Tissue Research, 2015
p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.
Guo H et al.
Gene, 2014
Cellular mechanosensing: getting to the nucleus of it all.
Fedorchak GR et al.
Progress in Biophysics and Molecular Biology, 2014
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers.
Al-Haggar M et al.
Journal of Clinical Pathology, 2013
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
Kane MS et al.
American Journal of Medical Genetics. Part A, 2013
Cytoplasmic localization of PML particles in laminopathies.
Houben F et al.
Histochemistry and Cell Biology, 2013
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
Al-Haggar M et al.
European Journal of Human Genetics : Ejhg, 2012
An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y et al.
American Journal of Medical Genetics. Part A, 2012
What Should the Cardiologist know about Lamin Disease?
Charron P et al.
Arrhythmia & Electrophysiology Review, 2012
Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation.
Saj M et al.
Molecular Diagnosis & Therapy, 2012