Results 51 to 60 of about 4,224 (165)

Síndrome de progeria de Hutchinson Gilford: mutación silenciosa gly608gly en el gen lmna: reporte de caso y revisión

open access: yesIatreia, 2010
INTRODUCCIÓN : mutaciones en el gen LMNA, LAMINA A/C; originan un grupo de desordenes genéticos que pueden ser clasificados en cuatro grupos: enfermedades de músculo estriado y cardiaco, síndromes lipodistroficos, neuropatías periféricas y progeria (1 ...
Lucero Tarin A.   +2 more
doaj  

A Case Report of Hutchinson-Gilford Progeria Syndrome

open access: yesThe Journal of Qazvin University of Medical Sciences, 2019
Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic condition occurs one in every 8 million live births. HGPS is characterized by premature aging in various organs.
Siamak Yaghoubi   +4 more
doaj   +1 more source

Karyopherin Dysfunction Is a Key Driver of Aging

open access: yesAging Cell, Volume 25, Issue 7, July 2026.
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

Unprecedented report: First female monozygotic twins as carriers of Hutchinson-Gilford progeria syndrome

open access: yesTrends in Pediatrics
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging resulting from an autosomal mutation in the LMNA gene.
Nelson Carlos Reis-Filho   +6 more
doaj   +1 more source

Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report

open access: yesJournal of Medical Case Reports, 2012
Introduction Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility ...
Kalil Kotb, Fargalley Hekma
doaj   +1 more source

Porcine Wound Models: The Gold Standard for Translational Research in Cutaneous Healing

open access: yesWound Repair and Regeneration, Volume 34, Issue 4, July/August 2026.
ABSTRACT Porcine wound models are central to translational cutaneous repair research because porcine skin reproduces many structural and healing features of human skin and supports clinically relevant wound sizes, sampling strategies and device testing.
Stephen C. Davis, Joshua Tam, Ivan Jozic
wiley   +1 more source

First Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria

open access: yesAdvanced Science, Volume 13, Issue 32, 9 June 2026.
We report the first PROTACs designed to degrade progerin, introducing a novel therapeutic approach for progeria. The best compound, UCM‐18142, significantly reduces progerin levels and improves key disease phenotypes in patient‐derived cells and in the LmnaG609G/G609G mouse model, paving the way for new treatment strategies targeting the root cause of ...
Jon Macicior‐Michelena   +5 more
wiley   +1 more source

Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome [PDF]

open access: yesAmerican Journal of Neuroradiology, 2012
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

Vitamin D receptor signaling in inflammatory senescence–associated skin aging: Mechanisms and therapeutic potentials

open access: yesJournal of Cell Communication and Signaling, Volume 20, Issue 2, June 2026.
Vitamin D receptor (VDR) signaling is implicated in inflammatory senescence‐associated skin aging, a growing health concern in aging populations where cellular senescence and chronic inflammation converge to create complex pathophysiological conditions.
Liancheng Guan   +8 more
wiley   +1 more source

The epidemiology of premature aging and associated comorbidities

open access: yesClinical Interventions in Aging, 2013
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  

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