Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Letter to the Editor From de Zegher and Ibáñez: "Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts".
de Zegher F et al.
The Journal of Clinical Endocrinology and Metabolism, 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
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Bos TA et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 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
Emerin prevents BAF-mediated aggregation of lamin A on chromosomes in telophase to allow nuclear membrane expansion and nuclear lamina formation.
Snyers L et al.
Molecular Biology of the Cell, 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
Reducing body myopathy associated with the LIM2 p.(His123Arg) FHL1 variant.
Darki L et al.
Clinical Neurology and Neurosurgery, 2021
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.
Turkyilmaz A et al.
Clinical Dysmorphology, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.
Magno S et al.
Journal of the Endocrine Society, 2020
American Association of Neuropathologists, Inc. Abstracts of the 96th Annual Meeting June 11-14, 2020.
Unknown Author
Journal of Neuropathology and Experimental Neurology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.
Piekarowicz K et al.
Cells, 2019
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases.
Samson C et al.
Nucleic Acids Research, 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
Phenotypic heterogeneity of ZMPSTE24 deficiency.
Cassini TA et al.
American Journal of Medical Genetics. Part A, 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
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?
Sewairi W et al.
European Journal of Human Genetics : Ejhg, 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
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.
Ruggiero L et al.
Muscle & Nerve, 2015
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
Scharner J et al.
Proteins, 2014
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.
Carboni N et al.
Muscle & Nerve, 2013
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
Starke S et al.
Aging, 2013
The epidemiology of premature aging and associated comorbidities.
Coppedè F
Clinical Interventions in Aging, 2013
An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y et al.
American Journal of Medical Genetics. Part A, 2012
Autosomal recessive LMNA mutation causing restrictive dermopathy.
Youn GJ et al.
Clinical Genetics, 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
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
Madej-Pilarczyk A et al.
American Journal of Medical Genetics. Part A, 2009
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
Verstraeten VL et al.
Journal of Cellular and Molecular Medicine, 2009
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
Vytopil M et al.
Journal of Medical Genetics, 2003
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0