HutchinsonGilford progeria syndrome

RL Pollex, RA Hegele - Clinical genetics, 2004 - Wiley Online Library
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 …

Hutchinson-Gilford progeria syndrome

WT Brown - Chromosomal Instability and Aging. Basinc Cciecne …, 2003 - books.google.com
Progeria, the Hutchinson–Gilford progeria syndrome, is a rare disease of childhood with
striking features resembling premature aging (1–3). The syndrome is most likely caused by a
sporadic dominant new mutation in a gene that has yet to be identified. Progeria is unlikely …

HutchinsonGilford progeria syndrome

NJ Ullrich, LB Gordon - Handbook of clinical neurology, 2015 - Elsevier
Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare, uniformly fatal,
segmental “premature aging” disease in which children exhibit phenotypes that may give us
insights into the aging process at both the cellular and organismal levels. Initial presentation …

HutchinsonGilford progeria syndrome

WB Ershler, L Ferrucci, DL Longo - The New England journal of …, 2008 - ncbi.nlm.nih.gov
In an otherwise elegant clinical description of the Hutchinson–Gilford progeria syndrome by
Merideth and colleagues (Feb. 7 issue), 1 we take exception to the authors' suggestion that
their findings have overarching significance with respect to an understanding of normal …

Recurrent de novo point mutations in lamin A cause HutchinsonGilford progeria syndrome

M Eriksson, WT Brown, LB Gordon, MW Glynn, J Singer… - Nature, 2003 - nature.com
HutchinsonGilford progeria syndrome (HGPS) is a rare genetic disorder characterized by
features reminiscent of marked premature ageing 1, 2. Here, we present evidence of
mutations in lamin A (LMNA) as the cause of this disorder. The HGPS gene was initially …

[HTML][HTML] Hutchinson-Gilford progeria syndrome

US Agarwal, S Sitaraman, S Mehta, G Panse - Indian Journal of …, 2010 - ijdvl.com
Progeria is a rare genetic disorder characterized by premature aging, involving the skin,
bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical
manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg …

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in HutchinsonGilford progeria syndrome

RD Goldman, DK Shumaker… - Proceedings of the …, 2004 - National Acad Sciences
HutchinsonGilford progeria syndrome (HGPS) is a premature aging disorder, commonly
caused by a point mutation in the lamin A gene that results in a protein lacking 50 aa near
the C terminus, denoted LAΔ50. Here we show by light and electron microscopy that HGPS …

Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

P Scaffidi, T Misteli - Nature medicine, 2005 - nature.com
Hutchinson-Gilford progeria syndrome (HGPS) is a childhood premature aging disease
caused by a spontaneous point mutation in lamin A (encoded by LMNA), one of the major
architectural elements of the mammalian cell nucleus 1, 2, 3, 4. The HGPS mutation …

Hutchinson-Gilford progeria syndrome.

W Wisuthsarewong, S Viravan - Journal of the Medical Association …, 1999 - europepmc.org
Hutchinson-Gilford progeria syndrome is an extremely rare condition of premature aging. It
is characterized by growth retardation and accelerated degenerative changes of cutaneous,
musculoskeletal and cardiovascular systems. The pathogenesis of the disease is unknown …

Phenotype and course of HutchinsonGilford progeria syndrome

MA Merideth, LB Gordon, S Clauss… - … England Journal of …, 2008 - Mass Medical Soc
Background HutchinsonGilford progeria syndrome is a rare, sporadic, autosomal dominant
syndrome that involves premature aging, generally leading to death at approximately 13
years of age due to myocardial infarction or stroke. The genetic basis of most cases of this …

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