Mr. F. Hutchinson
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چکیده
منابع مشابه
Abstract Purpose of the a Mr F
A major faci is being establis Standards (NBS provide extreme emulating a wide varilsty Bf rn typlcal of a small machine job shop. The control architecture adopted is hierarchical in nature and highly modular. The facility will be used for research on interface standards and metrology in an automated environment. The Congressional Acr e d n g up the National Bureau of Standards charges the Bure...
متن کاملHutchinson-Gilford Progeria Syndrome
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 are shown.
متن کاملProgerin impairs chromosome maintenance by depleting CENP-F from metaphase kinetochores in Hutchinson-Gilford progeria fibroblasts
Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare premature aging disorder that leads to death at an average age of 14.7 years due to myocardial infarction or stroke. The most common mutation in HGPS is at position G608G (GGC>GGT) within exon 11 of the LMNA gene. This mutation results in the deletion of 50 amino acids at the carboxyl-terminal tail of prelamin A, producing a tru...
متن کاملHutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4]. Approximately 90% of HGPS patients have an identica...
متن کاملHutchinson-Guilford progeria syndrome.
Progeria is a human disease model of accelerated ageing. The progeria syndrome is a rare genetic disorder, first reported in 1886 by Hutchinson and Guilford in England. The inheritance pattern, paternal age eVect, and lack of consanguinity argue that it is due to a sporadic dominant mutation. HutchinsonGuilford progeria syndrome (HGPS) is associated with several features of premature ageing—for...
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ژورنال
عنوان ژورنال: Nature
سال: 1940
ISSN: 0028-0836,1476-4687
DOI: 10.1038/146484a0