Hutchinson–Gilford progeria syndrome
Indian Dermatology Online Journal, 2015 Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare, uniformly fatal, segmental "premature aging" disease in which children exhibit phenotypes that may give us insights into the aging process at both the cellular and organismal levels. Initial presentation in early childhood is primarily based on growth and dermatologic findings.
Nicole J, Ullrich, Leslie B, Gordon
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Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy [PDF]
Molecular Therapy: Nucleic AcidsHutchinson-Gilford progeria syndrome is a fatal genetic disorder caused by a point mutation in the gene encoding the nuclear envelope protein lamin A/C.
Volha Dzianisava +3 more
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Hutchinson-Gilford progeria syndrome
Bangabandhu Sheikh Mujib Medical University Journal, 2017 Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease in which symptoms of aging are manifested at an early age. In the present report, we describe a 9 months old female child presented with a history of progressive coarsening of skin, failure to thrive and irregular bumps over thighs, buttocks and lower limbs for the last 7½ months. In
Zahoor Hussain Daraz +2 more
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Metabolic Dysfunction in Hutchinson–Gilford Progeria Syndrome [PDF]
Cells, 2020 Hutchinson–Gilford Progeria Syndrome (HGPS) is a segmental premature aging disease causing patient death by early teenage years from cardiovascular dysfunction. Although HGPS does not totally recapitulate normal aging, it does harbor many similarities to the normal aging process, with patients also developing cardiovascular disease, alopecia, bone and ...
Ray Kreienkamp, Susana Gonzalo
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Pathogenic hyperactivation of mTORC1 by cytoplasmic EP300 in Hutchinson-Gilford progeria syndrome [PDF]
Cell StressIn a recent issue in Nature Cell Biology, Sung Min Son et al. unveil a novel layer in the regulation of the mTORC1/autophagy axis by EP300 which can undergo nucleocytoplasmic shuttling in response to alterations in nutrient availability.
Lucille Ferret +2 more
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Hutchinson-Gilford Progeria Syndrome: A Literature Review [PDF]
Cureus, 2022 Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging condition that involves genetic mutations, resulting in debilitating phenotypic features. The present state of knowledge on the molecular pathways that contribute to the pathophysiology of HGPS and the techniques being tested in vitro and in vivo to combat progerin toxicity have been ...
Lamis, Aselah +5 more
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The Molecular and Cellular Basis of Hutchinson–Gilford Progeria Syndrome and Potential Treatments [PDF]
Genes, 2023 Manrose Singh, Dong Zhang
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Progeria Presenting with Pyogenic Granuloma in Conjunctiva: A Case Report
Journal of Nepal Medical Association, 2023 Hutchinson-Gilford progeria syndrome frequently exhibits stunted growth and premature ageing. Notable ocular characteristics can encompass a large number of ocular abnormalities.
Sanket Parajuli +2 more
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Progerinin, an Inhibitor of Progerin, Alleviates Cardiac Abnormalities in a Model Mouse of Hutchinson–Gilford Progeria Syndrome [PDF]
Cells, 2023 Eunju Song, Goo Taeg Oh, Bum-Joon Park
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Anesthetic management of a child with Hutchinson–Gilford progeria syndrome [PDF]
Journal of Anaesthesiology Clinical PharmacologySunil Rajan +3 more
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