Associated Papers
The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.
Shchagina O et al.
International Journal of Molecular Sciences, 2025
An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review.
Xu D et al.
Heliyon, 2023
MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells.
Harhouri K et al.
Cells, 2022
Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.
Wang J et al.
Frontiers in Pediatrics, 2022
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 2018
Shared molecular and cellular mechanisms of premature ageing and ageing-associated diseases.
Kubben N et al.
Nature Reviews. Molecular Cell Biology, 2017
MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.
Harhouri K et al.
Embo Molecular Medicine, 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
Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells.
Harhouri K et al.
Cells, 2016
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T et al.
The Journal of Investigative Dermatology, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F et al.
European Journal of Human Genetics : Ejhg, 2015
Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.
Cau P et al.
Seminars in Cell & Developmental Biology, 2014
Normal and aberrant splicing of LMNA.
Luo YB et al.
Journal of Medical Genetics, 2014
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.
Oshima J et al.
Gerontology, 2014
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Hisama FM et al.
American Journal of Medical Genetics. Part A, 2011