Hutchinson-Gilford progeria syndrome: unraveling the genetic basis, symptoms, and advancements in therapeutic approaches. [PDF]
Arun A +3 more
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The anti-senescence effect of D-β-hydroxybutyrate in Hutchinson-Gilford progeria syndrome involves progerin clearance by the activation of the AMPK-mTOR-autophagy pathway. [PDF]
Monterrubio-Ledezma F +5 more
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p300 nucleocytoplasmic shuttling underlies mTORC1 hyperactivation in Hutchinson-Gilford progeria syndrome. [PDF]
Son SM +4 more
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Long lifetime and tissue-specific accumulation of lamin A/C in Hutchinson-Gilford progeria syndrome. [PDF]
Hasper J +5 more
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The Use of Peripheral Nerve Block and Intra-articular Steroid Injection for Pain Management in an Adolescent with Hutchinson-Gilford Progeria Syndrome: A Case Report. [PDF]
Endencia MCS, Sy Su KMC, Reyes CRB.
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Coronary and carotid artery dysfunction and KV7 overexpression in a mouse model of Hutchinson-Gilford progeria syndrome. [PDF]
Macías Á +7 more
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Telomere length in Hutchinson-Gilford Progeria Syndrome
Mechanisms of Ageing and Development, 2009Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare premature aging disorder caused by mutations in the gene LMNA, which encodes the nuclear matrix protein lamin A. Previous research has shown that the average telomere length in fibroblasts from HGPS patients is shorter than in age-matched controls. How mutations in lamin A lead to shortened telomere
Michelle L, Decker +3 more
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Hutchinson–Gilford progeria syndrome
Clinical Genetics, 2004Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that causes premature, rapid aging shortly after birth. Recently, de novo point mutations in the Lmna gene have been found in individuals with HGPS. Lmna encodes lamin A and C, the A‐type lamins, which are an important structural component of the nuclear envelope.
R L, Pollex, R A, Hegele
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Lethal neonatal Hutchinson‐Gilford progeria syndrome
American Journal of Medical Genetics, 1999We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine
J I, Rodríguez +3 more
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