Hutchinson–Gilford progeria syndrome: review of the phenotype

RCM Hennekam - American journal of medical genetics Part A, 2006 - Wiley Online Library
Hutchinson–Gilford progeria syndrome (HGPS) is a rare but well known entity characterized
by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma …

Nuclear lamins: laminopathies and their role in premature ageing

JLV Broers, FCS Ramaekers, G Bonne… - Physiological …, 2006 - journals.physiology.org
It has been demonstrated that nuclear lamins are important proteins in maintaining cellular
as well as nuclear integrity, and in maintaining chromatin organization in the nucleus …

The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin

D McClintock, D Ratner, M Lokuge, DM Owens… - PloS one, 2007 - journals.plos.org
Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare disorder
characterized by accelerated aging and early death, frequently from stroke or coronary …

Is schizophrenia a syndrome of accelerated aging?

B Kirkpatrick, E Messias, PD Harvey… - Schizophrenia …, 2008 - academic.oup.com
Schizophrenia is associated with a number of anatomical and physiological abnormalities
outside of the brain, as well as with a decrease in average life span estimated at 20% in the …

Lipodystrophies

A Garg - Genetic Diagnosis of Endocrine Disorders, 2016 - Elsevier
In the last two decades, great progress has been made in refining the classification and
elucidating the molecular basis of genetic lipodystrophies, rare disorders characterized by …

Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies

CY Chen, YH Chi, RA Mutalif, MF Starost, TG Myers… - Cell, 2012 - cell.com
Human LMNA gene mutations result in laminopathies that include Emery-Dreifuss muscular
dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome …

Hutchinson–Gilford progeria syndrome: a premature aging disease

MS Ahmed, S Ikram, N Bibi, A Mir - Molecular neurobiology, 2018 - Springer
Progeria is sporadic, very rare, autosomal dominant, deadly childhood disorder. It is one of
the progeroid syndromes also known as Hutchinson–Gilford progeria syndrome (HGPS) …

Werner and Hutchinson–Gilford progeria syndromes: mechanistic basis of human progeroid diseases

BA Kudlow, BK Kennedy, RJ Monnat Jr - Nature reviews Molecular cell …, 2007 - nature.com
Progeroid syndromes have been the focus of intense research in part because they might
provide a window into the pathology of normal ageing. Werner syndrome and Hutchinson …

Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson–Gilford progeria syndrome

R Varga, M Eriksson, MR Erdos, M Olive… - Proceedings of the …, 2006 - pnas.org
Children with Hutchinson–Gilford progeria syndrome (HGPS) suffer from dramatic
acceleration of some symptoms associated with normal aging, most notably cardiovascular …

Nuclear mechanics in disease

M Zwerger, CY Ho, J Lammerding - Annual review of biomedical …, 2011 - annualreviews.org
Over the past two decades, the biomechanical properties of cells have emerged as key
players in a broad range of cellular functions, including migration, proliferation, and …