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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, Bellum Siva Nagi Reddy   +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 Acids
Hutchinson-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, Katarzyna Piekarowicz, Magdalena Machowska, Ryszard Rzepecki   +3 more
doaj   +2 more sources

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 ...
Zahoor Hussain Daraz, A. B. M. Osman Hayder Mazumder, Shahana A. Rahman   +2 more
doaj   +2 more sources

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   +4 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, Siddiqui SW, Ashok T, Patni N, Fatima M, Aneef AN.   +5 more
europepmc   +3 more sources

Pathogenic hyperactivation of mTORC1 by cytoplasmic EP300 in Hutchinson-Gilford progeria syndrome [PDF]

Cell Stress
In 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, Guido Kroemer, Mojgan Djavaheri-Mergny   +2 more
doaj   +2 more sources

Hutchinson-Gilford Progeria Syndrome

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
doaj   +1 more source

Mechanotransduction of the vasculature in Hutchinson-Gilford Progeria Syndrome [PDF]

Frontiers in Physiology
Hutchinson-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
doaj   +2 more sources

Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome [PDF]

Frontiers in Cardiovascular Medicine
Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare genetic premature aging disease that is historically fatal in teenage years, secondary to severe accelerated atherosclerosis.
Leslie B. Gordon, Leslie B. Gordon, Leslie B. Gordon, Sammy Basso, Sammy Basso, Sammy Basso, Sammy Basso, Justine Maestranzi, Elena Aikawa, Cassandra L. Clift, Antonio Giovanni Cammardella, Tommaso Hinna Danesi, Pedro J. del Nido, Elazer R. Edelman, Elazer R. Edelman, Abeer Hamdy, Sheila M. Hegde, Monica E. Kleinman, Nicola Maschietto, Mandeep R. Mehra, Srinivasan Mukundan, Srinivasan Mukundan, Francesco Musumeci, Marco Russo, Frank J. Rybicki, Pinak Bipin Shah, William A. Suarez, Kelsey Tuminelli, Katherine Zaleski, Ashwin Prakash, Marie Gerhard-Herman   +30 more
doaj   +2 more sources

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, Sadhana Sharma, Tina Shrestha   +2 more
doaj   +1 more source