Results 21 to 30 of about 7,521 (211)
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]
, 2014 Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun +5 more
core +3 more sources
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 +3 more
doaj +1 more source
Communications Biology, 2021 Kang, Park and colleagues develop and demonstrate the effects of a new drug candidate for treatment of Hutchinson-Gilford progeria syndrome pathologies.
So-mi Kang +18 more
doaj +1 more source
Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]
, 2018 Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide +13 more
core +2 more sources
Mammalian telomeres and their partnership with lamins [PDF]
, 2016 Chromosome ends are complex structures, which require a panel of factors for their elongation, replication, and protection. We describe here the mechanics of mammalian telomeres, dynamics and maintainance in relation to lamins.
BURLA, ROMINA +2 more
core +1 more source
Hutchinson-Gilford progeria syndrome
Indian Journal of Dermatology, Venereology, and Leprology, 2010 Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and ...
Agarwal, Uma Shankar +3 more
openaire +2 more sources
Methionine Restriction Extends Lifespan in Progeroid Mice and Alters Lipid and Bile Acid Metabolism [PDF]
, 2018 C.L.-O. is supported by grants from the European Union (ERC-2016-ADG, DeAge); Ministerio de Economía y Competitividad (MINECO/FEDER: SAF2014-52413-R and SAF2017-87655-R); Instituto de Salud Carlos III (RTICC); Progeria Research Foundation (PRF2016-66 ...
Bárcena Fernández, Clea +11 more
core +3 more sources
Nature Communications, 2020 Hutchinson-Gilford progeria syndrome is a genetic disease where an aberrant form of Lamin A disrupts chromatin by interfering with lamina associated domains.
Endre Sebestyén +11 more
doaj +1 more source
Progeria: Translational insights from cell biology [PDF]
, 2012 Cell biologists love to think outside the box, pursuing many surprising twists and unexpected turns in their quest to unravel the mysteries of how cells work. But can cell biologists think outside the bench? We are certain that they can, and clearly some
Cao, Kan +2 more
core +1 more source
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 +3 more
openaire +2 more sources