نتایج جستجو برای: progeroid syndromes

تعداد نتایج: 81654  

Journal: :The journals of gerontology. Series A, Biological sciences and medical sciences 2005
Anne C Hofer Rosie T Tran Owais Z Aziz Woodring Wright Giuseppe Novelli Jerry Shay Marc Lewis

Segmental progeroid syndromes are those whose phenotypes resemble accelerated aging. Here we analyze those phenotypes and hypothesize that short telomeres produce the same group of symptoms in a variety of otherwise unrelated progeroid syndromes. Specific findings are the following: (a) short telomeres in some progeroid syndromes cause an alopecia/osteoporosis/fingernail-atrophy group of sympto...

Journal: :Cell 2005
George M. Martin

Single-gene mutations can produce human progeroid syndromes--phenotypes that mimic usual or "normative" aging. These can be divided into two classes--those that have their impacts upon multiple organs and tissues (segmental progeroid syndromes) and those that have their major impacts upon a single organ or tissue (unimodal progeroid syndromes). The prototypic example of the former is the Werner...

Journal: :Journal of medical genetics 1997
M B Delatycki M A Cleary A Bankier P N McDougall J S Ahluwalia C W Chow C M Cooke-Yarborough

Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-ob...

Progeroid syndromes, one of which is metageria, are characterized by signs of premature aging with multiple systemic and skin symptoms. Here we describe an 8-year-old girl with no historyof specific underlying disease in her family, no hair growth at the scalp since she was born, and taller and thinner than her peers. We noticed diffuse subcutaneous fat atrophy. The patientwas refer...

Journal: :Biochemical Society transactions 2011
Fernando G Osorio Alejandro P Ugalde Guillermo Mariño Xose S Puente José M P Freije Carlos López-Otín

Progeroid laminopathies are accelerated aging syndromes caused by defects in nuclear envelope proteins. Accordingly, mutations in the LMNA gene and functionally related genes have been described to cause HGPS (Hutchinson-Gilford progeria syndrome), MAD (mandibuloacral dysplasia) or RD (restrictive dermopathy). Functional studies with animal and cellular models of these syndromes have facilitate...

Journal: :Human Molecular Genetics 2006

Journal: :Journal of Biological Chemistry 2006

Journal: :The international journal of biochemistry & cell biology 2005
Monika Puzianowska-Kuznicka Jacek Kuznicki

The molecular mechanisms leading to human senescence are still not known mostly because of the complexity of the process. Different research approaches are used to study ageing including studies of monogenic segmental progeroid syndromes. None of the known progerias represents true precocious ageing. Some of them, including Werner (WS), Bloom (BS), and Rothmund-Thomson syndromes (RTS) as well a...

Journal: :Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics 1988

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