Associated Papers
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ 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
Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.
Bennett JS et al.
Heart Rhythm, 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
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Mosbah H et al.
Cells, 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
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 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
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
Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome.
Lee S et al.
The Journal of 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
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.
Motegi S et al.
The Journal of Dermatology, 2014
p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.
Guo H et al.
Gene, 2014
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
Carboni N et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y et al.
American Journal of Medical Genetics. Part A, 2012
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
Garg A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009