Results 101 to 110 of about 17,639 (297)

Paclitaxel mitigates structural alterations and cardiac conduction system defects in a mouse model of Hutchinson–Gilford progeria syndrome

Cardiovascular Research, 2021
Aims Hutchinson–Gilford progeria syndrome (HGPS) is an ultrarare laminopathy caused by expression of progerin, a lamin A variant, also present at low levels in non-HGPS individuals. HGPS patients age and die prematurely, predominantly from cardiovascular
Á. Macías, J. J. Díaz-Larrosa, Yaazan Blanco, Víctor Fanjul, Cristina González-Gómez, P. Gonzalo, M. Andrés-Manzano, A. M. da Rocha, Daniela Ponce-Balbuena, A. Allan, D. Filgueiras-Rama, J. Jalife, V. Andrés   +12 more
semanticscholar   +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

Patient‐Derived Cortical Organoids Reveal Senescence of Neural Progenitor Cells in Hutchinson‐Gilford Progeria Syndrome

Aging Cell, EarlyView.
HGPS patient‐derived cortical organoids exhibit progerin accumulation, nuclear abnormalities, and increased senescence in rosette structures, leading to impaired neuronal differentiation and altered gene expression. ABSTRACT Hutchinson‐Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by premature aging and primarily caused by ...
Seeun Jeon, Chul‐Sung Park, Juyoung Hong, Jieun Kim, Yun Jin Lee, Junho K. Hur, Ji Yeoun Lee   +6 more
wiley   +1 more source

Small-Molecule Therapeutic Perspectives for the Treatment of Progeria

International Journal of Molecular Sciences, 2021
Hutchinson–Gilford progeria syndrome (HGPS), or progeria, is an extremely rare disorder that belongs to the class of laminopathies, diseases characterized by alterations in the genes that encode for the lamin proteins or for their associated interacting ...
Jon Macicior, Beatriz Marcos‐Ramiro, S. Ortega‐Gutiérrez   +2 more
semanticscholar   +1 more source

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

The Application of Clinical Genetics, 2020
Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF   +5 more
doaj  

Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]

Journal of Kerman University of Medical Sciences, 2005
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj  

Management of cataract in Werner syndrome

Indian Journal of Ophthalmology, 2018
Werner syndrome (WS) is a rare progressive disorder. It is characterized by the appearance of unusually accelerated aging (progeria) including bilateral senile cataract. Here, we report a successful management of hypermature cataract in WS.
Rakhi Kusumesh, Bibhuti Prassan Sinha, Anita Ambastha, Santosh Kumar Thakur   +3 more
doaj   +1 more source

Lessons in aging from Myc knockout mouse models

Frontiers in Cell and Developmental Biology, 2023
Despite MYC being among the most intensively studied oncogenes, its role in normal development has not been determined as Myc−/− mice do not survival beyond mid-gestation.
Edward V. Prochownik, Edward V. Prochownik, Edward V. Prochownik, Edward V. Prochownik, Huabo Wang   +4 more
doaj   +1 more source

Cytoskeleton stiffness regulates cellular senescence and innate immune response in Hutchinson–Gilford Progeria Syndrome

Aging Cell, 2020
Hutchinson–Gilford progeria syndrome (HGPS) is caused by the accumulation of mutant prelamin A (progerin) in the nuclear lamina, resulting in increased nuclear stiffness and abnormal nuclear architecture.
Xiaodong Mu, Chieh Tseng, W. S. Hambright, Polina R Matre, C. Lin, P. Chanda, Wanqun Chen, Jianhua Gu, S. Ravuri, Yan Cui, Ling Zhong, J. Cooke, L. Niedernhofer, P. Robbins, J. Huard   +14 more
semanticscholar   +1 more source

Novel treatment strategies for chronic kidney disease: insights from the animal kingdom [PDF]

, 2018
Many of the >2 million animal species that inhabit Earth have developed survival mechanisms that aid in the prevention of obesity, kidney disease, starvation, dehydration and vascular ageing; however, some animals remain susceptible to these ...
Arnold, Walter, Johnson, Richard J., Kuro-o, Makoto, Lanaspa, Miguel, Painer, Johanna, Ruf, Thomas, Shiels, Paul G., Stenvinkel, Peter   +7 more
core   +1 more source