نتایج جستجو برای: progeroid appearance
تعداد نتایج: 87138 فیلتر نتایج به سال:
Genome maintenance is considered a prime longevity assurance mechanism as apparent from many progeroid human syndromes that are caused by genome maintenance defects. The ERCC1 protein is involved in three genome maintenance systems: nucleotide excision repair, interstrand cross-link repair, and homologous recombination. Here we describe in-life and post-mortem observations for a hypomorphic Erc...
BubR1 insufficiency occurs with natural aging and induces progeroid phenotypes in both mice and children with mosaic variegated aneuploidy syndrome. In response to BubR1 insufficiency, skeletal muscle, fat, and lens tissue engage p19(Arf) to attenuate senescence and age-related deterioration. Here, we address how p19(Arf) exerts this caretaker role using BubR1 progeroid mice lacking p53 or its ...
With ageing, there is a loss of adult stem cell function. However, there is no direct evidence that this has a causal role in ageing-related decline. We tested this using muscle-derived stem/progenitor cells (MDSPCs) in a murine progeria model. Here we show that MDSPCs from old and progeroid mice are defective in proliferation and multilineage differentiation. Intraperitoneal administration of ...
A de novo G608G mutation in LMNA gene leads to Hutchinson-Gilford progeria syndrome. Mice lacking the prelamin A-processing metalloprotease, Zmpste24, recapitulate many of the progeroid features of Hutchinson-Gilford progeria syndrome. Here we show that A-type lamins interact with SUV39H1, and prelamin A/progerin exhibits enhanced binding capacity to SUV39H1, protecting it from proteasomal degr...
BACKGROUND AND PURPOSE Laminopathies arise through mutations in genes encoding Lamin A/C (LMNA) or associated proteins. They cause 4 different groups of disorders with diverse severity and often overlapping features: diseases of striated muscle (leading to muscular or cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, and accelerated aging disorders. SUMMARY OF CASE We repo...
Mandibuloacral dysplasia (MAD; MIM 248370, 608612) is a rare progeroid syndrome with autosomal recessive inheritance. It is characterized by mandibular hypoplasia, acroosteolysis, delayed closure of the cranial sutures, skin atrophy with mottled hyperpigmentation, stiff joints, and growth retardation. We here report Japanese female siblings with a severe MAD phenotype. Because of extreme microg...
A newborn male was noted to have bilateral congenital corneal opacification. Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties were performed; histopathologic examination revealed diffuse epithelial thi...
Aging is the main risk factor for most chronic diseases, disabilities, and declining health. It has long been proposed that senescent cells—damaged cells that have lost the ability to divide –drive the deterioration that underlies aging and agerelated diseases. However, definitive evidence for this relationship has been lacking. The use of a progeroid mouse model (which expresses low amounts of...
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