Results 31 to 40 of about 1,306,775 (184)

Hutchinson-Gilford syndrome (progeria)

Indian Journal of Dermatology, 2009
Progeria is a rare, autosomal dominant, progeroid disorder. In the world literature less than 100 cases have been reported to date. We present this case because of its rarity.
Surjushe Amar, Thakre Minal, Vasani Resham, Saple Dattatray   +3 more
openaire   +2 more sources

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

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

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

Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome [PDF]

, 2019
CRISPR/Cas9-based therapies hold considerable promise for the treatment of genetic diseases. Among these, Hutchinson–Gilford progeria syndrome, caused by a point mutation in the LMNA gene, stands out as a potential candidate.
Basso, S, Quesada Fernández, Víctor, Anna Barkaway, García Osorio, Fernando, Olaya Santiago-Fernández, López-Otín, C, Quesada, V, Freije, J M P, López Otín, Carlos, Rodríguez Folgueras, Alicia, Pérez Freije, José María, Rodríguez, Francisco, José M. P. Freije, Maeso Miguel, Daniel, Basso, Sammy, Daniel Maeso, Osorio, F G, Rolas, L, NOURSHARGH, S, Sammy Basso, Carlos López-Otín, Víctor Quesada, Rodríguez, F, Santiago-Fernández, O, Nourshargh, Sussan, Santiago Fernández, Olaya, Loïc Rolas, Francisco Rodríguez, Sussan Nourshargh, Folgueras, A R, Alicia R. Folgueras, Maeso, D, Barkaway, A, Barkaway, Anna, Fernando G. Osorio, Rolas, Loïc   +35 more
core   +1 more source

Hutchinson-Gilford Progeria Syndrome: A Literature Review. [PDF]

Cureus, 2022
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging condition that involves genetic mutations, resulting in debilitating phenotypic features. The present state of knowledge on the molecular pathways that contribute to the pathophysiology of HGPS and the techniques being tested in vitro and in vivo to combat progerin toxicity have been ...
Lamis A, Siddiqui SW, Ashok T, Patni N, Fatima M, Aneef AN.   +5 more
europepmc   +3 more sources

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

Integrated Metabolomics and Network Pharmacology Reveal Anti‐Aging and Anti‐MRSA Activities of Cucumis melo Var. flexuosus

Chemistry &Biodiversity, Volume 23, Issue 10, October 2026.
“Three fruit (LG, SH, and WH) and one leaves (LGLV) genotypes of snake melon were chemically profiled by LC‐HRMS. LGLV was chemically distinct and was active against MRSA as evidenced by an in vivo model. Moreover, LGLV counteracted H2O2‐induced cell senescence.
Mohammed N. A. Khalil, Rasha A. Radwan, Mariam Hassan, Noha A. Ahmed, Osama G. Mohamed, Mouchira A. Choucry, Ashootosh Tripathi, Rehab F. Taher   +7 more
wiley   +1 more source