Associated Papers
Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.
Zhou X et al.
Biogerontology, 2025
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
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging.
Trani JP et al.
Life Science Alliance, 2022
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
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
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
Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients.
Vautrot V et al.
Human Mutation, 2016
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T et al.
The Journal of Investigative Dermatology, 2015
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
Normal and aberrant splicing of LMNA.
Luo YB et al.
Journal of Medical Genetics, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
The epidemiology of premature aging and associated comorbidities.
Coppedè F
Clinical Interventions in Aging, 2013
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
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
Haque F et al.
The Journal of Biological Chemistry, 2010
Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A.
Huang S et al.
Experimental Cell Research, 2008
Model of human aging: recent findings on Werner's and Hutchinson-Gilford progeria syndromes.
Ding SL et al.
Clinical Interventions in Aging, 2008
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
Kandert S et al.
Human Molecular Genetics, 2007
An association of Hutchinson-Gilford progeria and malignancy.
Shalev SA et al.
American Journal of Medical Genetics. Part A, 2007
Mechanisms of cardiovascular disease in accelerated aging syndromes.
Capell BC et al.
Circulation Research, 2007
Mislocalization of prelamin A Tyr646Phe mutant to the nuclear pore complex in human embryonic kidney 293 cells.
Pan Y et al.
Biochemical and Biophysical Research Communications, 2007
Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions.
Ramírez CL et al.
Cellular and Molecular Life Sciences : Cmls, 2007
Molecular bases of progeroid syndromes.
Navarro CL et al.
Human Molecular Genetics, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Altered splicing in prelamin A-associated premature aging phenotypes.
De Sandre-Giovannoli A et al.
Progress in Molecular and Subcellular Biology, 2006
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.
Fukuchi K et al.
Journal of Medical Genetics, 2004