Results 61 to 70 of about 1,306,732 (153)

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

Journal 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

Proteostasis of organelles in aging and disease

The FEBS Journal, Volume 293, Issue 18, Page 5600-5626, September 2026.
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, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Hutchinson-Gilford Progeria Syndrome in a Young Man

, 2018
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder. It shows a characteristic progeria phenotype. The average life expectancy of HGPS patients is reported to be  ~ 14.6 years.
Maryam. Moinazad Tehrani MD, Agin Khosrow MD   +1 more
core   +1 more source

Síndrome de Hutchinson-Gilford Progeria [PDF]

, 2022
Hutchinson-Gilford Progeria Syndrome is a disease characterized by premature aging in children, due to a mutation in the Lamina type A, gene involved in cellular mitosis.
Palacios-Rosas, Erika Palacios, De Sales Palestina, Luis Alberto   +1 more
core  

Activation of the Lactate Receptor GPR81 Ameliorates Senescence Hallmarks and Improves Muscle Function in Cellular and Progeroid Models of Aging

Aging Cell, Volume 25, Issue 8, August 2026.
Skeletal muscle aging is associated with a decrease in expression of the lactate receptor GPR81. Treating senescent myoblasts in vitro and progeric mice in vivo with GPR81 agonist decreases intramyocellular lipid accumulation and reverses hallmarks of aging. ABSTRACT Skeletal muscle aging is associated with increased lipid accumulation, or myosteatosis,
Pihu Mehrotra, Sai Harsha Bhamidipati, Pedro Lei, John Toftegaard, Debanik Choudhury, Maryam Elsayed, Yali Zhang, Jianmin Wang, Shweta Chitkara, G. Ekin Atilla‐Gokcumen, Song Liu, Stelios T. Andreadis   +11 more
wiley   +1 more source

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

Trends 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, Thays Karolyne Ponte Prado Aguiar, Dafnin Lima Souza Ramos, Bruna Mariah Martins Müller, Isadora Sousa Oliveira, Felipe Augusto Cerni, Manuela Berto Pucca   +6 more
doaj   +1 more source

The epidemiology of premature aging and associated comorbidities

Clinical 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  

Targeting RANKL Prevents Bone Loss, Improves Muscle Function and Extends Lifespan in Progeroid Mice

Aging Cell, Volume 25, Issue 8, August 2026.
Targeting of RANKL by genetic and pharmacological approaches ameliorates key features of the progeroid phenotype in Zmpste24−/− mice. RANKL intervention restores bone mass, improves muscle phenotype, and extends survival. These findings support further exploration of RANKL‐targeted therapies for Hutchinson‐Gilford progeria syndrome.
Sandra Freitas‐Rodríguez, Alejandra Valle‐Cao, Francisco Rodríguez, Manuel Fernández‐Sanjurjo, Benjamín Fernández‐García, Vanessa Loredo, María Teresa Fernández‐García, Carmen Fiuza‐Luces, Alejandro Lucia, Carlos López‐Otín, Alejandro López‐Soto, Alicia R. Folgueras   +11 more
wiley   +1 more source

Artery‐on‐Chip Demonstrates Mechanical and Functional Features of Healthy and Diseased Living Smooth Muscle Tissue

Advanced Functional Materials, Volume 36, Issue 59, 23 July 2026.
This article details the development of an artery‐on‐chip platform for in vitro arterial disease modeling and therapeutic discovery. It describes the fabrication of a fibrin biomaterial scaffold seeded with iPSC‐derived smooth muscle and endothelial cells, mimicking native artery properties. Two genetic disease models showcase the platform's ability to
Danielle Yarbrough, Roy Chen, Katerina Katsouleas, Jaron Shoemaker, Travis Brady, Tianfang Yu, Jennifer Arthur Ataam, Connor Amelung, Lakshmi Santhanam, Ioannis Karakikes, Sharon Gerecht   +10 more
wiley   +1 more source

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, Volume 13, Issue 37, 3 July 2026.
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, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source