Results 1 to 10 of about 7,479 (177)

Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome [PDF]

Nature Communications, 2019
Hutchinson–Gilford progeria syndrome causes premature aging. Here the authors show that activation of the DNA damage response at dysfunctional telomeres and transcription of telomeric non-coding RNAs contributes to the pathogenesis, which can be ...
Julio Aguado, Agustin Sola-Carvajal, Valeria Cancila, Gwladys Revêchon, Peh Fern Ong, Corey Winston Jones-Weinert, Emelie Wallén Arzt, Giovanna Lattanzi, Oliver Dreesen, Claudio Tripodo, Francesca Rossiello, Maria Eriksson, Fabrizio d’Adda di Fagagna   +12 more
doaj   +2 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

Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report [PDF]

Journal of Medical Case Reports, 2012
Introduction Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility ...
Kalil Kotb, Fargalley Hekma
doaj   +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

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

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

Anesthetic management of a child with Hutchinson–Gilford progeria syndrome [PDF]

Journal of Anaesthesiology Clinical Pharmacology
Sunil Rajan, Priyanka Joseph, Gayathri Sreekumar, Maharnab Bhuyan   +3 more
doaj   +2 more sources

Inguinal herniotomy in a patient with progeria

Journal of Pediatric Surgery Case Reports, 2020
Hutchinson–Gilford progeria syndrome or progeria is a rare finding, Herein, we report a 4-year- old boy with progeria who underwent herniotomy and herniorrhaphy for left indirect inguinal hernia.
Tanvir K. Chowdhury, Afruzul Alam, Mohammad Zonaid Chowdhury, Md. Khurshid Alam Sarwar   +3 more
doaj   +1 more source

Conservatively managed extradural haematoma in a child with progeria

Interdisciplinary Neurosurgery, 2019
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterised by premature ageing. We report a case of a 13-year-old girl with HGPS who presented with an extradural haematoma following head injury.
Kapil Mohan Rajwani, Christopher G. Kellett, Marium Gul Muhammad, Cristina Bleil, Bassel Zebian   +4 more
doaj   +1 more source

Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis [PDF]

, 2004
Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease.
Bridger, JM, Kill, IR
core   +1 more source