Results 21 to 30 of about 4,224 (165)

iPSC-Derived Endothelial Cells Affect Vascular Function in a Tissue-Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome

Stem Cell Reports, 2020
Summary: Hutchinson-Gilford progeria syndrome (HGPS) is a rare disorder caused by a point mutation in the Lamin A gene that produces the protein progerin. Progerin toxicity leads to accelerated aging and death from cardiovascular disease.
Leigh Atchison, Nadia O. Abutaleb, Elizabeth Snyder-Mounts, Yantenew Gete, Alim Ladha, Thomas Ribar, Kan Cao, George A. Truskey   +7 more
doaj   +1 more source

Differential expression of A-type and B-type lamins during hair cycling. [PDF]

PLoS ONE, 2009
Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes. These disorders include the premature aging disorders Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, as well as ...
Mubashir Hanif, Ylva Rosengardten, Hanna Sagelius, Björn Rozell, Maria Eriksson   +4 more
doaj   +1 more source

Arterial stiffness and cardiac dysfunction in Hutchinson–Gilford Progeria Syndrome corrected by inhibition of lysyl oxidase

Life Science Alliance, 2021
The findings show that increased lysyl oxidase abundance is causal for the elevated arterial stiffness present in the arteries of Hutchinson–Gilford Progeria Syndrome mice.
Ryan von Kleeck, Emilia Roberts, Paola Castagnino, Kyle Bruun, Sonja A Brankovic, Elizabeth A Hawthorne, Tina Xu, John W Tobias, Richard K Assoian   +8 more
doaj   +1 more source

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

Nature Communications, 2020
Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease and smooth muscle cells are the most affected cells in HGPS individuals. Here, the authors report a microfluidics platform with HGPS induced pluripotent stem cells and show that ...
Patricia R. Pitrez, Luís Estronca, Luís Miguel Monteiro, Guillem Colell, Helena Vazão, Deolinda Santinha, Karim Harhouri, Daniel Thornton, Claire Navarro, Anne-Laure Egesipe, Tânia Carvalho, Rodrigo L. Dos Santos, Nicolas Lévy, James C. Smith, João Pedro de Magalhães, Alessandro Ori, Andreia Bernardo, Annachiara De Sandre-Giovannoli, Xavier Nissan, Anna Rosell, Lino Ferreira   +20 more
doaj   +1 more source

Erythrocyte Senescence in a Model of Rat Displaying Hutchinson-Gilford Progeria Syndrome

Analytical Cellular Pathology, 2018
Background. Increased oxidative stress is a major cause of aging and age-related diseases. Erythrocytes serve as good model for aging studies. Dihydrotachysterol is known to induce premature aging feature in rats mimicking Hutchinson-Gilford progeria ...
Manoj Kumar Chaudhary, Syed Ibrahim Rizvi   +1 more
doaj   +1 more source

Ranolazine treatment for refractory angina in a patient with Hutchinson-Gilford progeria syndrome and end stage aortic stenosis

Cardiogenetics, 2020
Management of symptoms in patients with inoperable aortic stenosis is often hard in clinical practice. We report a case of a patient with Hutchinson-Gilford progeria syndrome and end-stage aortic stenosis, considered not suitable for surgical or ...
Giuseppe Limongelli, Emanuele Monda, Giovanbattista Capozzi, Martina Caiazza, Maria Giovanna Russo   +4 more
doaj   +1 more source

The decision‐making process and criteria in selecting candidate drugs for progeria clinical trials

EMBO Molecular Medicine, 2016
Hutchinson–Gilford progeria syndrome (progeria) is an extremely rare premature aging disease with a population prevalence of 1 in 20 million. Nevertheless, propelled by the discovery of a causal mutation in the lamin A/C gene (LMNA) (De Sandre‐Giovannoli
Leslie B Gordon, Mark W Kieran, Monica E Kleinman, Tom Misteli   +3 more
doaj   +1 more source

Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome

Nature Communications, 2019
Hutchinson–Gilford progeria syndrome causes premature aging. Here the authors show that activation of the DNA damage response at dysfunctional telomeres and transcription of telomeric non-coding RNAs contributes to the pathogenesis, which can be ...
Julio Aguado, Agustin Sola-Carvajal, Valeria Cancila, Gwladys Revêchon, Peh Fern Ong, Corey Winston Jones-Weinert, Emelie Wallén Arzt, Giovanna Lattanzi, Oliver Dreesen, Claudio Tripodo, Francesca Rossiello, Maria Eriksson, Fabrizio d’Adda di Fagagna   +12 more
doaj   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

Progeria in siblings: A rare case report

Indian Journal of Dermatology, 2011
Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder.
R Sowmiya, D Prabhavathy, S Jayakumar
doaj   +1 more source