نتایج جستجو برای: progeroid syndromes
تعداد نتایج: 81654 فیلتر نتایج به سال:
The genetic diseases Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) arise from accumulation of farnesylated prelamin A because of defects in the lamin A maturation pathway. Both of these diseases exhibit symptoms that can be viewed as accelerated aging. The mechanism by which accumulation of farnesylated prelamin A leads to these accelerated aging phenotypes is not ...
H utchinson-Gilford Progeria Syndrome (HGPS, OMIM 176670), commonly called ‘‘progeria’’, occurs in <1 in 8 million births and displays striking features of ‘‘premature aging’’. 2 HGPS recapitulates most of the pathologies of normal aging at an accelerated rate, with sparing of the nervous system. Children with HGPS usually appear normal in early infancy, but at about six months of age begin to ...
Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to b...
Mutations of the lamin A gene cause various premature aging syndromes, including Hutchinson-Gilford progeria syndrome (HGPS) and atypical Werner syndrome. In HGPS (but not atypical Werner syndrome), extensive loss of vascular smooth muscle cells leads to myocardial infarction with premature death. The underlying mechanisms how single gene mutations can cause various phenotypes are largely unkno...
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar...
H utchinson-Gilford Progeria Syndrome (HGPS, OMIM 176670), commonly called ‘‘progeria’’, occurs in <1 in 8 million births and displays striking features of ‘‘premature aging’’. 2 HGPS recapitulates most of the pathologies of normal aging at an accelerated rate, with sparing of the nervous system. Children with HGPS usually appear normal in early infancy, but at about six months of age begin to ...
DNA damage causally contributes to aging and age-related diseases. The declining functioning of tissues and organs during aging can lead to the increased risk of succumbing to aging-associated diseases. Congenital syndromes that are caused by heritable mutations in DNA repair pathways lead to cancer susceptibility and accelerated aging, thus underlining the importance of genome maintenance for ...
The accumulation of cellular damage, including DNA damage, is thought to contribute to aging-related degenerative changes, but how damage drives aging is unknown. XFE progeroid syndrome is a disease of accelerated aging caused by a defect in DNA repair. NF-κB, a transcription factor activated by cellular damage and stress, has increased activity with aging and aging-related chronic diseases. To...
1855 T here are a handful of biological questions that affect all of us directly in everyday life. How are emotions formed, what is the basis for consciousness, and why do we look the way we do? One that strikes particularly close to home is the question of how we age. The sheer complexity of this problem has had many scientists throw up their hands in frustration and most of the postulated the...
The classical Busemann-Petty problem (1956) asks, whether origin-symmetric convex bodies in R with smaller hyperplane central sections necessarily have smaller volumes. It is known, that the answer is affirmative if n ≤ 4 and negative if n > 4. The same question can be asked when volumes of hyperplane sections are replaced by other comparison functions having geometric meaning. We give unified ...
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