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Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly repo...
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674425/ https://www.ncbi.nlm.nih.gov/pubmed/19379495 http://dx.doi.org/10.1186/1742-4933-6-4 |
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author | Coutinho, Henrique Douglas M Falcão-Silva, Vivyanne S Gonçalves, Gregório Fernandes da Nóbrega, Raphael Batista |
author_facet | Coutinho, Henrique Douglas M Falcão-Silva, Vivyanne S Gonçalves, Gregório Fernandes da Nóbrega, Raphael Batista |
author_sort | Coutinho, Henrique Douglas M |
collection | PubMed |
description | Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care workers. This review shows the necessity of a more detailed clinical identification of Hutchinson-Gilford progeria syndrome and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome. |
format | Text |
id | pubmed-2674425 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-26744252009-04-29 Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model Coutinho, Henrique Douglas M Falcão-Silva, Vivyanne S Gonçalves, Gregório Fernandes da Nóbrega, Raphael Batista Immun Ageing Review Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care workers. This review shows the necessity of a more detailed clinical identification of Hutchinson-Gilford progeria syndrome and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome. BioMed Central 2009-04-20 /pmc/articles/PMC2674425/ /pubmed/19379495 http://dx.doi.org/10.1186/1742-4933-6-4 Text en Copyright © 2009 Coutinho et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Coutinho, Henrique Douglas M Falcão-Silva, Vivyanne S Gonçalves, Gregório Fernandes da Nóbrega, Raphael Batista Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model |
title | Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model |
title_full | Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model |
title_fullStr | Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model |
title_full_unstemmed | Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model |
title_short | Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model |
title_sort | molecular ageing in progeroid syndromes: hutchinson-gilford progeria syndrome as a model |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674425/ https://www.ncbi.nlm.nih.gov/pubmed/19379495 http://dx.doi.org/10.1186/1742-4933-6-4 |
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