Associated Papers
Early-onset multivalvular disease caused by a missense variant in lamin A/C.
Janin A et al.
Hgg Advances, 2025
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ et al.
International Journal of Molecular Sciences, 2024
Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.
Wilke MVMB et al.
Genes, 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
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
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Ghosh DK et al.
Aging Cell, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.
Kandhaya-Pillai R et al.
Aging Pathobiology and Therapeutics, 2020
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
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA.
Yanhua X et al.
Frontiers in Endocrinology, 2018
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
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
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T et al.
The Journal of Investigative Dermatology, 2015
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
Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies.
Scharner J et al.
Gene Therapy, 2015
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.
Motegi S et al.
The Journal of Dermatology, 2014
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
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
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.
Renard D et al.
Stroke, 2009