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Hutchinson-Gilford progeria syndrome [PDF]
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 ...
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.
Ray Kreienkamp, Susana Gonzalo
doaj +7 more sources
Hutchinson-Gilford Progeria Syndrome [PDF]
Online Journal of Health & Allied Sciences, 2014 Hutchinson-Gilford Progeria syndrome (HGPS) is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life.
Gopal G, Belavadi GB
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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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Ocular manifestations in the Hutchinson-Gilford progeria syndrome [PDF]
Indian Journal of Ophthalmology, 2011 The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning ′prematurely old′. It is caused by de
Shivcharan L Chandravanshi +3 more
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Mechanotransduction of the vasculature in Hutchinson-Gilford Progeria Syndrome [PDF]
Frontiers in PhysiologyHutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disorder that causes severe cardiovascular disease, resulting in the death of patients in their teenage years.
Kevin L. Shores, George A. Truskey
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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.
Amar Singh Bhukya +1 more
doaj +5 more sources
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
doaj +2 more sources
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 A +5 more
europepmc +3 more sources
The Molecular and Cellular Basis of Hutchinson–Gilford Progeria Syndrome and Potential Treatments [PDF]
Genes, 2023 Manrose Singh, Dong Zhang
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