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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 …
by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma …
Nuclear lamins: laminopathies and their role in premature ageing
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 …
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 …
characterized by accelerated aging and early death, frequently from stroke or coronary …
Is schizophrenia a syndrome of accelerated aging?
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 …
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 …
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
Human LMNA gene mutations result in laminopathies that include Emery-Dreifuss muscular
dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome …
dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome …
Hutchinson–Gilford progeria syndrome: a premature aging disease
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) …
the progeroid syndromes also known as Hutchinson–Gilford progeria syndrome (HGPS) …
Werner and Hutchinson–Gilford progeria syndromes: mechanistic basis of human progeroid diseases
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 …
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
Children with Hutchinson–Gilford progeria syndrome (HGPS) suffer from dramatic
acceleration of some symptoms associated with normal aging, most notably cardiovascular …
acceleration of some symptoms associated with normal aging, most notably cardiovascular …
Nuclear mechanics in disease
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 …
players in a broad range of cellular functions, including migration, proliferation, and …