Results 1 to 10 of about 4,214 (205)

Impact of miR-181a on SIRT1 Expression and Senescence in Hutchinson–Gilford Progeria Syndrome

Diseases
Background/Objectives: Hutchinson–Gilford progeria syndrome (HGPS) is a rare and fatal genetic disease caused by a silent mutation in the LMNA gene, leading to the production of progerin, a defective prelamin A variant.
Eva-Maria Lederer, Felix Quirin Fenzl, Peter Krüger, Moritz Schroll, Ramona Hartinger, Karima Djabali   +5 more
doaj   +1 more source

Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome

Protein & Cell, 2018
Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best characterized human progeroid syndromes. HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product ...
Zeming Wu, Weiqi Zhang, Moshi Song, Wei Wang, Gang Wei, Wei Li, Jinghui Lei, Yu Huang, Yanmei Sang, Piu Chan, Chang Chen, Jing Qu, Keiichiro Suzuki, Juan Carlos Izpisua Belmonte, Guang-Hui Liu   +14 more
doaj   +1 more source

Adenine base editing rescues pathogenic phenotypes in tissue engineered vascular model of Hutchinson-Gilford progeria syndrome

APL Bioengineering
The rare, accelerated aging disease Hutchinson-Gilford Progeria Syndrome (HGPS) is commonly caused by a de novo c.1824 C > T point mutation of the LMNA gene that results in the protein progerin.
Nadia O. Abutaleb, Xin D. Gao, Akhil Bedapudi, Leandro Choi, Kevin L. Shores, Crystal Kennedy, Jordyn E. Duby, Kan Cao, David R. Liu, George A. Truskey   +9 more
doaj   +1 more source

Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells

Cells, 2019
Hutchinson-Gilford progeria syndrome (HGPS), a rare premature aging disorder that leads to death at an average age of 14.7 years due to myocardial infarction or stroke, is caused by mutations in the LMNA gene.
Chang Liu, Rouven Arnold, Gonçalo Henriques, Karima Djabali   +3 more
doaj   +1 more source

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome

Nature Communications, 2018
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, but devastating genetic disease characterized by segmental premature aging, with cardiovascular disease being the main cause of death.
Gabriel Balmus, Delphine Larrieu, Ana C. Barros, Casey Collins, Monica Abrudan, Mukerrem Demir, Nicola J. Geisler, Christopher J. Lelliott, Jacqueline K. White, Natasha A. Karp, James Atkinson, Andrea Kirton, Matt Jacobsen, Dean Clift, Raphael Rodriguez, Sanger Mouse Genetics Project, David J. Adams, Stephen P. Jackson   +17 more
doaj   +1 more source

Progerin reduces LAP2α-telomere association in Hutchinson-Gilford progeria

eLife, 2015
Hutchinson-Gilford progeria (HGPS) is a premature ageing syndrome caused by a mutation in LMNA, resulting in a truncated form of lamin A called progerin.
Alexandre Chojnowski, Peh Fern Ong, Esther SM Wong, John SY Lim, Rafidah A Mutalif, Raju Navasankari, Bamaprasad Dutta, Henry Yang, Yi Y Liow, Siu K Sze, Thomas Boudier, Graham D Wright, Alan Colman, Brian Burke, Colin L Stewart, Oliver Dreesen   +15 more
doaj   +1 more source

Cambios en el perfil oncológico en nefrología desde 2015-2023, HGPS, Santo Domingo, República Dominicana

Ciencia y Salud
Introducción: El perfil oncológico de los pacientes de nefrología en la República Dominicana (RD) no ha sido socializado con la comunidad científica.
Eusebio Felipe Burgos Guntín, Limber Iván Rojas Pérez   +1 more
doaj   +1 more source

Hutchinson-Gilford Progeria Syndrome

Online Journal of Health & Allied Sciences, 2014
Hutchinson-Gilford Progeria syndrome (HGPS) is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life.
Gopal G, Belavadi GB
doaj  

Hutchinson–Gilford progeria syndrome: unraveling the genetic basis, symptoms, and advancements in therapeutic approaches

Therapeutic Advances in Rare Disease
Hutchinson–Gilford Progeria syndrome (HGPS) serves as a prominent model for Progeroid syndromes, a group of rare genetic disorders characterized by accelerated aging.
Akhil Arun, Athira Rejith Nath, Bonny Thankachan, M. K. Unnikrishnan   +3 more
doaj   +1 more source

Endothelial YAP/TAZ activation promotes atherosclerosis in a mouse model of Hutchinson-Gilford progeria syndrome

The Journal of Clinical Investigation
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease caused by the expression of progerin, an aberrant protein produced by a point mutation in the LMNA gene.
Ana Barettino, Cristina González-Gómez, Pilar Gonzalo, María J. Andrés-Manzano, Carlos R. Guerrero, Francisco M. Espinosa, Rosa M. Carmona, Yaazan Blanco, Beatriz Dorado, Carlos Torroja, Fátima Sánchez-Cabo, Ana Quintas, Alberto Benguría, Ana Dopazo, Ricardo García, Ignacio Benedicto, Vicente Andrés   +16 more
doaj   +1 more source