Associated Papers
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.
Wu HW et al.
Journal of Cardiovascular Development and Disease, 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
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.
Piekarowicz K et al.
Cells, 2019
Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.
Dharmaraj T et al.
Frontiers in Cell and Developmental Biology, 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
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
Molecular insights into the premature aging disease progeria.
Vidak S et al.
Histochemistry and Cell Biology, 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
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.
Motegi S et al.
The Journal of Dermatology, 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
LMNA mutation in progeroid syndrome in association with strokes.
Gonzalez-Quereda L et al.
European Journal of Medical Genetics, 0