Associated Papers
Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.
Zhou X et al.
Biogerontology, 2025
Intracranial hypertension in a patient with Hutchinson-Gilford progeria syndrome.
Bonneau L et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 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
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ et al.
International Journal of Molecular Sciences, 2024
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.
Wang J et al.
Pediatric Research, 2024
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
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
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
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
Carotid artery dissection in Hutchinson-Gilford Progeria: a case report.
González-Maestro V et al.
Bmc Pediatrics, 2022
The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.
Borah S et al.
Frontiers in Cell and Developmental Biology, 2022
Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.
Wang J et al.
Frontiers in Pediatrics, 2022
A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome.
Erdos MR et al.
Nature Medicine, 2021
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Atalaia A et al.
Journal of Neuromuscular Diseases, 2021
Pharmacotherapy to gene editing: potential therapeutic approaches for Hutchinson-Gilford progeria syndrome.
Saxena S et al.
Geroscience, 2020
Roles of TrkC Signaling in the Regulation of Tumorigenicity and Metastasis of Cancer.
Jin W
Cancers, 2020
Pathogenic mutations in genes encoding nuclear envelope proteins and defective nucleocytoplasmic connections.
Östlund C et al.
Experimental Biology and Medicine (maywood, N.j.), 2019
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.
Toni L et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
LMNA-mutated Rabbits: A Model of Premature Aging Syndrome with Muscular Dystrophy and Dilated Cardiomyopathy.
Sui T et al.
Aging and Disease, 2019
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
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
Shared molecular and cellular mechanisms of premature ageing and ageing-associated diseases.
Kubben N et al.
Nature Reviews. Molecular Cell Biology, 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
Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients.
Vautrot V et al.
Human Mutation, 2016
Prelamin A processing, accumulation and distribution in normal cells and laminopathy disorders.
Casasola A et al.
Nucleus (austin, Tex.), 2016
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T et al.
The Journal of Investigative Dermatology, 2015
Hutchinson-Gilford progeria syndrome.
Ullrich NJ et al.
Handbook of Clinical Neurology, 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
Low levels of the reverse transactivator fail to induce target transgene expression in vascular smooth muscle cells.
Viceconte N et al.
Plos One, 2014
Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome.
Silvera VM et al.
Ajnr. American Journal of Neuroradiology, 2013
The epidemiology of premature aging and associated comorbidities.
Coppedè F
Clinical Interventions in Aging, 2013
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
Reunert J et al.
European Journal of Human Genetics : Ejhg, 2012
Wiedemann-Rautenstrauch syndrome: report of a variant case.
Kiraz A et al.
American Journal of Medical Genetics. Part A, 2012
A conserved splicing mechanism of the LMNA gene controls premature aging.
Lopez-Mejia IC et al.
Human Molecular Genetics, 2011
Hutchinson-Gilford progeria syndrome, cardiovascular disease and oxidative stress.
Trigueros-Motos L et al.
Frontiers in Bioscience (scholar Edition), 2011
[Three cases of Hutchinson-Gilford progeria syndrome].
Doubaj Y et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2011
[Laminopathies: one gene, several diseases].
Bertrand AT et al.
Biologie Aujourd'hui, 2011
Diseases of the nuclear envelope.
Worman HJ et al.
Cold Spring Harbor Perspectives in Biology, 2010
Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.
Domingo DL et al.
Oral Diseases, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009