نتایج جستجو برای: hutchinson gilford

تعداد نتایج: 1970  

2017
Haji Mohammed Nazir Akshiitha Ramesh Baabhu Yuvaraj Muralidharan Seena Cheppala Rajan

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic ...

2016
Siddhi Tiwari Vikas Meena Chaitra Prakash Deepak Kumar Mathur

Hutchinson–Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a five year old female child with clinical manifestations characteristic of this syndrome. This child had a senile look with large cranium, frontal bossing, sparse light brown hair and dilated visible veins over the scalp. Other features...

Journal: :EMBO reports 2014
Iliana A Chatzispyrou Riekelt H Houtkooper

Premature aging syndromes have gained much attention, not only because of their devastating symptoms but also because they might hold a key to some of the mechanisms underlying aging. The Hutchinson-Gilford progeria syndrome (HGPS) is caused by a mutation in the LMNA gene, which normally produces lamins A and C through alternative splicing. Due to this mutation, HGPS patients express an incompl...

2012
Leslie B. Gordon Kan Cao Francis S. Collins

Cell biologists love to think outside the box, pursuing many surprising twists and unexpected turns in their quest to unravel the mysteries of how cells work. But can cell biologists think outside the bench? We are certain that they can, and clearly some already do. To encourage more cell biologists to venture into the realm of translational research on a regular basis, we would like to share a...

2009
Baomin Li Sonali Jog Jose Candelario Sita Reddy Lucio Comai

Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population. However, their usefulness for aging research has been controversial, as it has been argued that these diseases do not faithfully reflect the process of natural aging. Here we review recent find...

2013
Seung-Jun Lee Sung-Ha Park

Arterial ageing is characterized by age associated degeneration and sclerosis of the media layer of the large arteries. However, besides ageing, clinical conditions, which enhance oxidative stress and inflammation act to accelerate the degree of arterial ageing. In this review, we summarized the pathophysiology and contributing factors that accelerate arterial ageing. Among them, we focused on ...

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