نتایج جستجو برای: hutchinson gilford
تعداد نتایج: 1970 فیلتر نتایج به سال:
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...
Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise. Cognitive development is normal. Data on 10 of our own cases and 132 cases from l...
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