نتایج جستجو برای: gilford progeria syndrome
تعداد نتایج: 622251 فیلتر نتایج به سال:
Progeria also known Hutchinson–Gilford progeria syndrome (HGPS), is an extremely rare genetic disorder. The prevalence of HGPS is 1 in 4-8 million newborns. Progeria causes premature, rapid aging shortly after birth present within the first year of life. Recently, de novo point mutations in the Lmna gene at position 1824 of the coding sequence have been found in persons with HGPS. Lmna encodes ...
In the late 1800s, Hutchinson reported two young boys with ‘congenital absence of hair and its appendages’. They, and an additional patient, were described further by Gilford, who proposed the term ‘progeria’ for this condition [1]. Hutchinson–Gilford Progeria syndrome (HGPS) is a rare developmental disorder affecting most of the organ systems in a manner that mimics, to some extent, features o...
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 ...
Background—Progerin is a mutant form of lamin A responsible for Hutchinson-Gilford progeria
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