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Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient
BackgroundNeonatal progeroid disorders are rare disorders with clinical features including low body mass index, proptosis, aged and dysmorphic facial...
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Hutchinson-Gilford progeria patient-derived cardiomyocyte model of carrying LMNA gene variant c.1824 C > T
Cardiovascular diseases, atherosclerosis, and strokes are the most common causes of death in patients with Hutchinson-Gilford progeria syndrome...
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Dysmorphic Syndromes with Association of Progeria and Skeletal Malformations
Some malformative syndromes characterized by a premature senescence have statural retardation and other anomalies of the skeleton and internal... -
Progeria—a Rare Genetic Condition with Accelerated Ageing Process
Progeria is a rare genetic disease which is characterised by accelerated ageing and reduced life span. There are differing types of progeria, but the...
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Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China
BackgroundHutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor...
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Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome has an incidence of approximately 1 in 4–eight million live births. The newborns are normal at birth, but... -
Biomechanical and transcriptional evidence that smooth muscle cell death drives an osteochondrogenic phenotype and severe proximal vascular disease in progeria
Hutchinson–Gilford Progeria Syndrome results in rapid aging and severe cardiovascular sequelae that accelerate near end-of-life. We found a...
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p300 nucleocytoplasmic shuttling underlies mTORC1 hyperactivation in Hutchinson–Gilford progeria syndrome
The mechanistic target of rapamycin complex 1 (mTORC1) is a master regulator of cell growth, metabolism and autophagy. Multiple pathways modulate...
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The Nuclear Envelope in Ageing and Progeria
Development from embryo to adult, organismal homeostasis and ageing are consecutive processes that rely on several functions of the nuclear envelope... -
Novel Algorithm for Detection and Analysis of Irremediable diseases—Progeria
In this Paper, a novel algorithm is designed to detect Hutchinson-Gilford Progeria. We aim to test five symptoms in a set of people by devising an... -
SerpinE1 drives a cell-autonomous pathogenic signaling in Hutchinson–Gilford progeria syndrome
Hutchinson–Gilford progeria syndrome (HGPS) is a rare, fatal disease caused by Lamin A mutation, leading to altered nuclear architecture, loss of...
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Unique progerin C-terminal peptide ameliorates Hutchinson–Gilford progeria syndrome phenotype by rescuing BUBR1
An accumulating body of evidence indicates an association between mitotic defects and the aging process in Hutchinson–Gilford progeria syndrome...
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Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome
Clonal hematopoiesis of indeterminate potential (CHIP), defined as the presence of somatic mutations in cancer-related genes in blood cells in the...
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Phasor map analysis to investigate Hutchinson–Gilford progeria cell under polarization-resolved optical scanning microscopy
Polarized light scanning microscopy is a non-invasive and contrast-enhancing technique to investigate anisotropic specimens and chiral organizations....
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Lonafarnib and everolimus reduce pathology in iPSC-derived tissue engineered blood vessel model of Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal genetic disease that accelerates atherosclerosis. With a limited pool of HGPS patients,...
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Sex-specific preservation of neuromuscular function and metabolism following systemic transplantation of multipotent adult stem cells in a murine model of progeria
Onset and rates of sarcopenia, a disease characterized by a loss of muscle mass and function with age, vary greatly between sexes. Currently, no...
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Coronary and carotid artery dysfunction and KV7 overexpression in a mouse model of Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease caused by expression of progerin, a lamin A variant that is also...
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Carotid artery dissection in Hutchinson-Gilford Progeria: a case report
BackgroundStrokes in the paediatric age group have their own epidemiology and aetiology and are frequently misdiagnosed. As in the adult population,...
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Analysis of a rare progeria variant of Barrier-to-autointegration factor in Drosophila connects centromere function to tissue homeostasis
Barrier-to-autointegration factor (BAF/BANF) is a nuclear lamina protein essential for nuclear integrity, chromatin structure, and genome stability....
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Crystal structure of progeria mutant S143F lamin A/C reveals increased hydrophobicity driving nuclear deformation
Lamins are intermediate filaments that form a 3-D meshwork in the periphery of the nuclear envelope. The recent crystal structure of a long fragment...