Ursula Margaret Hutchinson
نویسندگان
چکیده
منابع مشابه
Hutchinson-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 کاملMargaret Macdowall
Margaret Macdowall, a well known and leading figure among pioneer teachers of the mentally defective, was born on July 20th, 1862, at Thornton Dale (her father was Vicar of Rillington in 1864). She had a very delicate girlhood which seriously interfered with her education, but in spite of that she lived to be nearly 68. When special opportunities came, her doctor (attending her for a very sever...
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...
متن کاملHutchinson-Gilford progeria syndrome.
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 in early childhood is primarily based on growth and dermatologic findings. Primary morbidity and mortality for children with HG...
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ژورنال
عنوان ژورنال: BMJ
سال: 2004
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.328.7432.171