Results 31 to 40 of about 1,306,732 (153)

Isoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson–Gilford Progeria Syndrome [PDF]

ACS Central Science, 2021
Hutchinson-Gilford progeria syndrome (HGPS, progeria) is a rare genetic disease characterized by premature aging and death in childhood for which there were no approved drugs for its treatment until last November, when lonafarnib obtained long-sought FDA
Beatriz Marcos-Ramiro, Ana Gil-Ordóñez, Nagore I. Marín-Ramos, Francisco J. Ortega-Nogales, Moisés Balabasquer, Pilar Gonzalo, Nora Khiar-Fernández, Loïc Rolas, Anna Barkaway, Sussan Nourshargh, Vicente Andrés, Mar Martín-Fontecha, María L. López-Rodríguez, Silvia Ortega-Gutiérrez   +13 more
doaj   +2 more sources

Inguinal herniotomy in a patient with progeria

Journal of Pediatric Surgery Case Reports, 2020
Hutchinson–Gilford progeria syndrome or progeria is a rare finding, Herein, we report a 4-year- old boy with progeria who underwent herniotomy and herniorrhaphy for left indirect inguinal hernia.
Tanvir K. Chowdhury, Afruzul Alam, Mohammad Zonaid Chowdhury, Md. Khurshid Alam Sarwar   +3 more
doaj   +1 more source

Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

Immunity & Ageing, 2009
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.
da Nóbrega Raphael, Gonçalves Gregório, Falcão-Silva Vivyanne S, Coutinho Henrique   +3 more
doaj   +1 more source

Farnesyltransferase inhibitor treatment restores chromosome territory positions and active chromosome dynamics in Hutchinson-Gilford progeria syndrome cells [PDF]

, 2011
Copyright @ 2011 Mehta et al.; licensee BioMed Central Ltd. This article has been made available through the Brunel Open Access Publishing Fund. This is an open access article distributed under the terms of the Creative Commons Attribution License ...
Christopher H Eskiw, Ishita S Mehta, Halime D Arican, Kill, IR, Arican, HD, Eskiw, CH, Bridger, JM, Joanna M Bridger, Mehta, IS, Ian R Kill   +9 more
core   +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

Hutchinson-Gilford Progeria Syndrome [PDF]

, 2022
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells.
Gutiérrez Castañeda, Luz Dary, Lancheros, Natalia, Angarita, Lizeth, Bernal, Betty, Benavides, Vanessa, Bautista, Luisa, Echeverri, Catalina, Pardo, Juan, Guarín, Laura, Villamil, Andrés, Pulido, Daniela, Bautista, Mónica, Camacho Cruz, Jhon   +12 more
core  

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