نتایج جستجو برای: gilford progeria syndrome

تعداد نتایج: 622251  

2017
KAMALDEEP SINGH

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 ...

Journal: :Trends in molecular medicine 2002
Jouni Uitto

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...

Journal: :Journal of the College of Physicians and Surgeons Pakistan 2020

Journal: :American Journal of Medical Genetics Part A 2006

Journal: :The journals of gerontology. Series A, Biological sciences and medical sciences 2008
Huber R Warner

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 ...

2013
José Rivera Fernando G. Osorio Rebeca Acín-Pérez José A. Enriquez Carlos López-Otín

Background—Progerin is a mutant form of lamin A responsible for Hutchinson-Gilford progeria

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