Results 71 to 80 of about 1,306,775 (184)
Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome [PDF]
HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed.
N J, Ullrich +3 more
openaire +2 more sources
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu +15 more
wiley +1 more source
The epidemiology of premature aging and associated comorbidities
Fabio Coppedè Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy Abstract: Hutchinson–Gilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood ...
Coppedè F
doaj
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
Cellular Senescence and Aging: Mechanisms, Disease Convergence, and Therapeutic Frontiers
This schematic illustrates the hierarchical and interconnected nature of the primary molecular hallmarks of aging. The progression of aging is driven by a convergence of intrinsic molecular insults. Within the nucleus, genomic instability and telomere attrition trigger persistent DDR, accompanied by extensive epigenetic alterations.
Guowei Cai +10 more
wiley +1 more source
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
Single Cell Mechanics in Disease Progression
Cells transmit distinct mechanical forces through ECM adhesion and cell–cell junctions and actomyosin‐generated traction forces are transmitted to the substrate through integrin‐based focal adhesions. Mechanical signals are further transmitted to the nucleus via the LINC complex, connecting the cytoskeleton to the nuclear lamina. These forces integrate
Sabin Kim +3 more
wiley +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
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4 ...
Jean-Ha Baek +2 more
openaire +2 more sources
Karyopherin Dysfunction Is a Key Driver of Aging
Studies on the proteostasis network and aging have focused on protein synthesis, folding, and turnover. Here, emphasis on the spatial dimension in proteostasis is proposed by recognizing nucleocytoplasmic transport as an important player in aging. ABSTRACT Aging is often framed as the gradual erosion of proteostasis, driven by declining chaperone ...
Louis R. Lapierre
wiley +1 more source

