نتایج جستجو برای: hutchinson gilford
تعداد نتایج: 1970 فیلتر نتایج به سال:
Hutchinson Gilford progeria syndrome is a fatal disorder characterized by accelerated aging, bone resorption and atherosclerosis, caused by a LMNA mutation which produces progerin, a mutant lamin A precursor. Progeria cells display progerin and prelamin A nuclear accumulation, altered histone methylation pattern, heterochromatin loss, increased DNA damage and cell cycle alterations. Since the L...
Our life span is genetically programmed and it is possible that a defect in produced proteins encoded by the longevity gene is a cause of aging. Progeria which is a rare, fatal genetic condition which affects between one in four million and one in eight million children of both sexes equally and characterized by premature and accelerated aging. The appearance and physiology of these children re...
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...
Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes. These disorders include the premature aging disorders Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, as well as restrictive dermopathy. Prior studies have shown that the lamin A/C and B proteins are expressed in skin, but little is known about their normal expre...
Lamins A and C, alternatively spliced products of the LMNA gene, are key components of the nuclear lamina. The two isoforms are found in similar amounts in most tissues, but we observed an unexpected pattern of expression in the brain. Western blot and immunohistochemistry studies showed that lamin C is abundant in the mouse brain, whereas lamin A and its precursor prelamin A are restricted to ...
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