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GlossaryHutchinson-Gilford Progeria Syndrome (HGPS)

rare genetic disorder causing rapid aging in children

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by rapid aging in children, typically becoming apparent within the first two years of life. It is caused by a mutation in the LMNA gene, which leads to the production of an abnormal protein called progerin, resulting in cellular instability and the accelerated aging process.

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research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China

3 citations , September 2013 in “Journal of the American Academy of Dermatology”

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations

115 citations , October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research Lamins in Development, Tissue Maintenance, and Stress

64 citations , November 2012 in “EMBO reports”

Lamins are vital for cell survival, organ development, and preventing premature aging.

research Intermittent Treatment with Farnesyltransferase Inhibitor and Sulforaphane Improves Cellular Homeostasis in Hutchinson-Gilford Progeria Fibroblasts

32 citations , July 2017 in “Oncotarget”

Alternating treatment with two drugs could help cells in a rapid aging disease.

research Premature Aging Syndromes: From Patients to Mechanism

29 citations , October 2019 in “Journal of dermatological science”

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

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