The Medical Mystery of Progeria
The thesis deals with Progeria or Hutchinson-Gilford syndrome, the disease of very rapid aging resulting in tightened skin, paucity of subcutaneous fat around the eyes, cataracts, arteriosclerosis and unique skeletal ...
Getmanets, Iryna, Artemenko, Margaryta
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Hutchinson-Gilford syndrome (progeria)
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
doaj
Single-cell analysis of the progeria arterial wall reveals progerin-induced progressive, cell type-specific dysfunction and somatic mutation accumulation. [PDF]
Merino LG +13 more
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The senescence-inhibitory p53 isoform Δ133p53α represses the proinflammatory chemokine CXCL10 in progeria model mice and naturally aged mice. [PDF]
Yamada L, Liu H, Harris CC, Horikawa I.
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Charles F. Harris, Robert Hutohison
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Progerin cross-linking stiffens the nucleus and impairs mechanosensation in Hutchinson-Gilford progeria syndrome. [PDF]
Srivastava LK +3 more
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Correction: Hutchinson-Gilford progeria syndrome alters the endothelial genetic response to laminar shear stress. [PDF]
Kennedy CC, Carter JL, Truskey GA.
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Expanding the Progeroid Laminopathy Spectrum: Clinical Variability and Later-Onset Phenotype in Homozygous LMNA c.1579C>T (p.Arg527Cys) Associated Mandibuloacral Dysplasia. [PDF]
Arany ES, Zocche D, Cobben J.
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Lonafarnib clinical trials demonstrate uncoupling of the muscle-bone unit in Hutchinson-Gilford Progeria Syndrome. [PDF]
Kreienkamp RJ +8 more
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