Results 51 to 60 of about 14,020 (216)
Indian journal of dermatology, venereology and leprology, 2012 A case of progeria is being reported in a 7-year old boy. He had characteristic facies, short stature, alopecia, high pitched voice, coxa valga and sclerodermatous changes in skin.
C, Kaur +3 more
openaire +3 more sources
EMBO Molecular Medicine, 2021 Inflammation is a hallmark of aging and accelerated aging syndromes such as Hutchinson–Gilford progeria syndrome (HGPS). In this study, we present evidence of increased expression of the components of the NLRP3 inflammasome pathway in HGPS skin ...
Alvaro González‐Dominguez +9 more
doaj +1 more source
, 2015 We perform a statistical study of the distances between successive occurrencies of a given dinucleotide in the DNA sequence for a number of organisms of different complexity.
Castellani, Gastone C. +6 more
core +1 more source
Generating health technology assessment evidence for rare diseases [PDF]
, 2014 Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.
Facey, Karen +6 more
core +1 more source
Proteostasis of organelles in aging and disease
The FEBS Journal, EarlyView.Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source
Progeria, a model for accelerated aging exhibited by HIV patients? [PDF]
, 2010 International audienceTo confirm, among HIV1-infected patients, data from in vitro studies showing that antiretroviral therapies (ART) induce an accelerated aging through the same mechanism than genetic laminopathies (progeria) and «physiological » aging,
Pierre Cau
core +1 more source
Gut Microbiota‐Linked Benefits of Low‐Intensity Pulsed Ultrasound Rejuvenate the Ageing Muscle
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, June 2026.ABSTRACT Background Ageing is an inevitable biological process that contributes to increased prevalence of age‐associated diseases, including sarcopenia, defined by progressive loss of muscle mass, functional decline and a heightened risk of injury. Developing effective interventions remains a critical clinical priority.
Jia‐Hua Jhuang +4 more
wiley +1 more source
A multiparametric anti-aging CRISPR screen uncovers a role for BAF in protein synthesis regulation
Nature CommunicationsProgeria syndromes are very rare, incurable premature aging conditions recapitulating most aging features. Here, we report a whole genome, multiparametric CRISPR screen, identifying 43 genes that can rescue multiple cellular phenotypes associated with ...
Sophia Y. Breusegem +11 more
doaj +1 more source
Conservatively managed extradural haematoma in a child with progeria
Interdisciplinary Neurosurgery, 2019 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterised by premature ageing. We report a case of a 13-year-old girl with HGPS who presented with an extradural haematoma following head injury.
Kapil Mohan Rajwani +4 more
doaj +1 more source
Hutchinson Gilford Progeria Syndrome: A Therapeutic Approach via Adenoviral Delivery of CRISPR/cas Genome Editing System [PDF]
, 2014 Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare human genetic disease caused by mutations in the LMNA gene. LMNA codes for structural components of the nuclear lamina. Alterations of nuclear lamina lead to a very variable class of diseases known as
ARANCIO, Walter +3 more
core +1 more source