Results 21 to 30 of about 9,936 (203)
Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome. [PDF]
, 2022 Clonal hematopoiesis of indeterminate potential (CHIP), defined as the presence of somatic mutations in cancer-related genes in blood cells in the absence of hematological cancer, has recently emerged as an important risk factor for several age-related ...
de la Barrera, Jorge +15 more
core +1 more source
Journal of Medical Genetics, 1974 A pair of male monozygotic twins, both affected by progeria is described. The concordance in this manifestation suggests a genetic aetiology and other evidence indicates the implication of autosomal recessive factors; the chromosomes of these patients show no detectable abnormalities.
J, Viégas, P L, Souza, F M, Salzano
openaire +2 more sources
Targeting RANKL Prevents Bone Loss, Improves Muscle Function and Extends Lifespan in Progeroid Mice. [PDF]
Aging CellTargeting of RANKL by genetic and pharmacological approaches ameliorates key features of the progeroid phenotype in Zmpste24−/− mice. RANKL intervention restores bone mass, improves muscle phenotype, and extends survival. These findings support further exploration of RANKL‐targeted therapies for Hutchinson‐Gilford progeria syndrome.
Freitas-Rodríguez S +11 more
europepmc +2 more sources
Premature aging of the body - the role of laminopathy [PDF]
Farmacja Polska, 2021 Aging is a process, that went off inevitable and it is associated with the accumulation of macromolecular damage, genomic instability, and loss of heterochromatin. All these changes conduct to deterioration function of stem cells and reducing the ability
Julia Wiśniewska +7 more
doaj +1 more source
Cells, 2021 Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease caused by a mutation in LMNA. A G608G mutation in exon 11 of LMNA is responsible for most HGPS cases, generating a truncated protein called “progerin”.
Jennifer M. Röhrl +2 more
doaj +1 more source
Case of mandibuloacral dysplasia with type B lipodystrophy
Indian Journal of Paediatric Dermatology, 2021 Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature.
Sanober Burzin Daruwalla +3 more
doaj +1 more source
LivAge: An Online Aging Clock for Murine Transcriptomic Age Estimation. [PDF]
Aging CellWe present LivAge, an online aging clock that estimates murine transcriptomic age from hepatic RNA‐seq data. Externally validated, it detects accelerated aging in progeroid models and quantifies the effect of geroprotective interventions, providing an accurate, accessible, and ready‐to‐use tool for aging research.
Celemín-Capaldi V +6 more
europepmc +2 more sources
Di-san junyi daxue xuebao, 2019 Objective To study the changes in the metabolic activity of brown adipose tissues in a mouse model of progeria using Cerenkov luminescence imaging. Methods 18F-FDG PET/CT imaging and Cerenkov luminescence imaging were used to dynamically monitor the ...
WANG Zhengjie +4 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 +9 more
core +1 more source