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Coronary and carotid artery dysfunction and K_V7 overexpression in a mouse model of Hutchinson-Gilford progeria syndrome. [PDF]

Geroscience
Macías Á, Nevado RM, González-Gómez C, Gonzalo P, Andrés-Manzano MJ, Dorado B, Benedicto I, Andrés V.   +7 more
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Telomere length in Hutchinson-Gilford Progeria Syndrome

Mechanisms of Ageing and Development, 2009
Hutchinson-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, Elizabeth, Chavez, Irma, Vulto, Peter M, Lansdorp   +3 more
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Hutchinson–Gilford progeria syndrome

Clinical Genetics, 2004
Hutchinson–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, 1999
We 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, P, Pérez-Alonso, R, Funes, J, Pérez-Rodríguez   +3 more
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Hutchinson-Gilford progeria syndrome

Drugs of the Future, 2006
The rare genetic autosomal dominant condition Hutchinson-Gilford progeria syndrome (HGPS) is characterized by a dramatic, rapid appearance of aging beginning in childhood. HGPS progression generates vascular disease, which generally leads to death during the teenage years.
null Davies, S.L., null Bozzo, J.
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Cardiovascular manifestations of Hutchinson–Gilford progeria syndrome

Cardiology in the Young, 2022
AbstractCardiovascular complications are the most frequent cause of death in patients with the Hutchinson–Gilford progeria syndrome. However, due to its rarity, studying the course of cardiac abnormalities has been a challenge. The cardiovascular phenotype helps to provide greater insight into the natural history of these abnormalities.
Andreia Palma, Patrícia V. Silva, António Pires   +2 more
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Hutchinson–Gilford Progeria Syndrome

JAMA Dermatology
This case report describes a boy younger than 2 years with Hutchinson–Gilford progeria syndrome.
Yu-Ting, Tsai, Yi-Chien, Yang
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Hutchinson-Gilford Progeria Syndrome

2019
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome
Camacho-Cruz, Jhon, Dary Gutiérrez-Castañeda, Luz, Pulido, Daniela, Echeverri, Catalina, Bernal, Betty, Bautista, Luisa, Angarita, Lizeth, Villamil, Andrés, Guarin, Laura, Benavides, Vanessa, Lancheros, Natalia, Pardo, Juan, Bautista, Monica   +12 more
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Patient with unusual Hutchinson-Gilford syndrome (progeria)

Pediatric Neurology, 1994
A patient with unusual Hutchinson-Gilford syndrome (progeria) is reported. This 7-year-old boy had all the characteristics of progeria, except for coxa valga and the "horse-riding" stance. A previous cerebral infarction was detected in the right putamen on cranial magnetic resonance imaging.
S, Matsuo, Y, Takeuchi, S, Hayashi, A, Kinugasa, T, Sawada   +4 more
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HUTCHINSON-GILFORD PROGERIA SYNDROME: A PATHOLOGIC STUDY

Pediatric Pathology & Molecular Medicine, 2002
Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance if unclear, although both autosomal recessive and autosomal dominant modes have been proposed. The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia ...
Jeanne, Ackerman, Enid, Gilbert-Barness
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