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
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
Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.
Wang J et al.
Frontiers in Pediatrics, 2022
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
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
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 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
Genetics of aging, progeria and lamin disorders.
Ghosh S et al.
Current Opinion in Genetics & Development, 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
Potential therapeutic approaches for modulating expression and accumulation of defective lamin A in laminopathies and age-related diseases.
Zhavoronkov A et al.
Journal of Molecular Medicine (berlin, Germany), 2012
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
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
Ahmad Z et al.
Clinical Genetics, 2012
[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
Genotype-phenotype correlations in laminopathies: how does fate translate?
Scharner J et al.
Biochemical Society Transactions, 2010
Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.
Dechat T et al.
Genes & Development, 2008
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
Moulson CL et al.
Human Mutation, 2007
Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report.
Chu Y et al.
Pediatric Dermatology, 0