3 citations
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September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
274 citations
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June 2011 in “Science” In Arabidopsis thaliana, this study found that proper O-glycosylation of extensins is crucial for root hair elongation and self-assembly of the cell wall.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
64 citations
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November 2012 in “EMBO reports” This review discusses the role of lamins in development, tissue maintenance, and stress response, and does not report new experimental findings.
32 citations
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July 2017 in “Oncotarget” This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.