Results 71 to 80 of about 1,306,732 (153)
A case of hutchinson-gilford progeria syndrome mimicking scleredema in early infancy
We report a case of Hutchinson-Gilford progeria syndrome (HGPS). The patient showed the characteristics of scleredema at the age of 2.5 months but developed all the manifestations of HGPS gradually until 10 months old.
Osma, E. +7 more
core +1 more source
Hutchinsonův-Gilfordův syndrom patří do skupiny onemocnění nazývající se progerie. Jedná se o syndrom předčasného stárnutí, způsobený mutací genu pro lamin A, tzv. laminopatii.
Jurkovičová, Monika
core +1 more source
Nuclear dysfunction in aging and neurodegeneration
Abstract Neurodegenerative diseases are characterized by a loss of neuronal function and structure, often in a region‐specific manner. Multiple factors contribute to neuronal dysfunction and death, including pathogenic protein buildup, protein mislocalization, and inflammation. Despite extensive research, the common mechanisms driving neurodegeneration
Abbigael Aday +7 more
wiley +1 more source
Summary: Advanced age and DNA damage accumulation are prominent risk factors for cancer. The premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS) provides a unique opportunity for studying the interplay between DNA damage and aging ...
Patricia Fernandez +5 more
doaj +1 more source
Hutchinson-Gilford syndrome (progeria)
Progeria is a rare, autosomal dominant, progeroid disorder. In the world literature less than 100 cases have been reported to date. We present this case because of its rarity.
Surjushe Amar +3 more
doaj
Hutchinson-Gilford progeria syndrome: Rejuvenating old drugs to fight accelerated ageing
International audienceWhat if the next generation of successful treatments was hidden in the current pharmacopoeia? Identifying new indications for existing drugs, also called the drug repurposing or drug rediscovery process, is a highly efficient and ...
Muchir, Antoine +4 more
core +1 more source
Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj
Aging in the Cardiovascular System: Lessons from Hutchinson-Gilford Progeria Syndrome [PDF]
Aging, the main risk factor for cardiovascular disease (CVD), is becoming progressively more prevalent in our societies. A better understanding of how aging promotes CVD is therefore urgently needed to develop new strategies to reduce disease burden ...
del Campo, Lara +5 more
core +1 more source
Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome
[[abstract]]"Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome: We report an 8½-year-old girl with premature aging, a karyotype of 46,XX and a de novo c.1824C>T mutation encoding p.G608G in the lamin A gene.
陳持平;Chen, Chih-Ping
core
Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research
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.
Baomin Li +4 more
doaj +1 more source

