نتایج جستجو برای: progeria

تعداد نتایج: 858  

Journal: :Clinical Interventions in Aging 2008
Shian-ling Ding Chen-Yang Shen

The molecular mechanisms involved in human aging are complicated. Two progeria syndromes, Werner's syndrome (WS) and Hutchinson-Gilford progeria syndrome (HGPS), characterized by clinical features mimicking physiological aging at an early age, provide insights into the mechanisms of natural aging. Based on recent findings on WS and HGPS, we suggest a model of human aging. Human aging can be tri...

Journal: :Cell Regeneration 2015

Journal: :The Journals of Gerontology Series A: Biological Sciences and Medical Sciences 2008

2018
Ray Kreienkamp Simona Graziano Nuria Coll-Bonfill Gonzalo Bedia-Diaz Emily Cybulla Alessandro Vindigni Dale Dorsett Nard Kubben Luis Francisco Zirnberger Batista Susana Gonzalo

Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by a truncated lamin A protein (progerin) that drives cellular and organismal decline. HGPS patient-derived fibroblasts accumulate genomic instability, but its underlying mechanisms and contribution to disease remain poorly understood. Here, we show that progerin-induced replication stress (RS) drives genomic instab...

Journal: :The Journal of clinical investigation 1973
D P Singal S Goldstein

HL-A phenotypes were determined by a cytotoxicity assay on circulating lymphocytes of two boys with the premature aging syndrome, progeria. The antigenic phenotypes were not unusual inasmuch as they are frequently seen in the normal population. However, none of these antigens could be detected by the same assay on cultured skin fibroblasts from either individual, even when a significant mitotic...

2015
Tamir Chandra Philip Andrew Ewels Stefan Schoenfelder Mayra Furlan-Magaril Steven William Wingett Kristina Kirschner Jean-Yves Thuret Simon Andrews Peter Fraser Wolf Reik

Cellular senescence has been implicated in tumor suppression, development, and aging and is accompanied by large-scale chromatin rearrangements, forming senescence-associated heterochromatic foci (SAHF). However, how the chromatin is reorganized during SAHF formation is poorly understood. Furthermore, heterochromatin formation in senescence appears to contrast with loss of heterochromatin in Hu...

2011
Hui Kwon Kim Jong Yoon Lee Eun Ju Bae Phil Soo Oh Won Il Park Dong Sung Lee Jong-Il Kim Hong Jin Lee

Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. This abnormal app...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2006
Renee Varga Maria Eriksson Michael R Erdos Michelle Olive Ingrid Harten Frank Kolodgie Brian C Capell Jun Cheng Dina Faddah Stacie Perkins Hedwig Avallone Hong San Xuan Qu Santhi Ganesh Leslie B Gordon Renu Virmani Thomas N Wight Elizabeth G Nabel Francis S Collins

Children with Hutchinson-Gilford progeria syndrome (HGPS) suffer from dramatic acceleration of some symptoms associated with normal aging, most notably cardiovascular disease that eventually leads to death from myocardial infarction and/or stroke usually in their second decade of life. For the vast majority of cases, a de novo point mutation in the lamin A (LMNA) gene is the cause of HGPS. This...

2013
Fabio Coppedè

Hutchinson-Gilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. The discovery of their genetic basis has led to the identification of several gene mutations leading to a spectrum of progeroid phenotypes ra...

Journal: :Proceedings of the Royal Society of Medicine 1967

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