نتایج جستجو برای: progeria
تعداد نتایج: 858 فیلتر نتایج به سال:
The Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disease characterized by an accelerated aging, due to the accumulation in nucleus of a toxic protein called progerin, leading to abnormal gene expression and potential microRNA (miRNA) deregulation. To evaluate the role of miRNAs in HGPS, we conducted an in vitro miRNome analysis by RT-qPCR on dermal fibroblasts of 5 patients and...
The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were sev...
IN this issue of the Journal, I have included a summary of a workshop held in November 2007 on the topic of Hutchinson-Gilford Progeria Syndrome (HGPS) (1). This syndrome was first described over 120 years ago by Hutchinson (2), and although the phenotype does include some aging-like changes, biogerontologists have questioned whether it is a viable model for studying accelerated aging (3). The ...
The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for E...
The Rockefeller University Press $30.00 J. Cell Biol. Vol. 208 No. 6 729–744 www.jcb.org/cgi/doi/10.1083/jcb.201412024 JCB 729 Correspondence to Susan R. Wente: [email protected] Abbreviations used in this paper: ANOVA, analysis of variance; CCFW, calcofluor white; cNLS, classical NLS; DR, dietary restriction; ERC, extrachromosomal ribosomal DNA circle; HGPS, Hutchinson–Gilford progeri...
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