Literature DB >> 18421896

Looking for disease being a model of human aging.

I Hausmanowa-Petrusewicz1, A Madej-Pilarczyk.   

Abstract

This paper is a part of an introduction to authors' study on systemic laminopathies and their role in human aging. Of special interest is progeria--a type of systemic laminopathy associated usually with mutation 1824 C > T and presenting phenotype of preliminary aging. The authors analyse the differences between the progeria and other syndrome of preliminary aging--Werner's syndrome.

Entities:  

Mesh：

Year:  2007        PMID： 18421896      PMCID： PMC2949578     

Source DB:  PubMed          Journal:  Acta Myol        ISSN： 1128-2460


  24 in total

1.  Lamin a truncation in Hutchinson-Gilford progeria.

Authors:  Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Pierre Cau; Claire Navarro; Jeanne Amiel; Irène Boccaccio; Stanislas Lyonnet; Colin L Stewart; Arnold Munnich; Martine Le Merrer; Nicolas Lévy
Journal:  Science       Date:  2003-04-17       Impact factor: 47.728

2.  Paternal origin of LMNA mutations in Hutchinson-Gilford progeria.

Authors:  M R D'Apice; R Tenconi; I Mammi; J van den Ende; G Novelli
Journal:  Clin Genet       Date:  2004-01       Impact factor: 4.438

3.  LMNA mutations in atypical Werner's syndrome.

Authors:  C Vigouroux; F Caux; J Capeau; S Christin-Maitre; A Cohen
Journal:  Lancet       Date:  2003-11-08       Impact factor: 79.321

4.  Cardiovascular manifestations in progeria. Report of clinical and pathologic findings in a patient with severe arteriosclerotic heart disease and aortic stenosis.

Authors:  N MAKOUS; S FRIEDMAN; W YAKOVAC; E P MARIS
Journal:  Am Heart J       Date:  1962-09       Impact factor: 4.749

5.  [Ocular manifestations in progeria].

Authors:  C Iordănescu; D Denislam; E Avram; A Chiru; M Busuioc; D Cioablă
Journal:  Oftalmologia       Date:  1995 Jan-Mar

6.  The spectrum of WRN mutations in Werner syndrome patients.

Authors:  Shurong Huang; Lin Lee; Nancy B Hanson; Catherine Lenaerts; Holger Hoehn; Martin Poot; Craig D Rubin; Da-Fu Chen; Chih-Chao Yang; Heike Juch; Thomas Dorn; Roland Spiegel; Elif Arioglu Oral; Mohammed Abid; Carla Battisti; Emanuela Lucci-Cordisco; Giovanni Neri; Erin H Steed; Alexa Kidd; William Isley; David Showalter; Janet L Vittone; Alexander Konstantinow; Johannes Ring; Peter Meyer; Sharon L Wenger; Axel von Herbay; Uwe Wollina; Markus Schuelke; Carin R Huizenga; Dru F Leistritz; George M Martin; I Saira Mian; Junko Oshima
Journal:  Hum Mutat       Date:  2006-06       Impact factor: 4.878

7.  Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Authors:  Maria Eriksson; W Ted Brown; Leslie B Gordon; Michael W Glynn; Joel Singer; Laura Scott; Michael R Erdos; Christiane M Robbins; Tracy Y Moses; Peter Berglund; Amalia Dutra; Evgenia Pak; Sandra Durkin; Antonei B Csoka; Michael Boehnke; Thomas W Glover; Francis S Collins
Journal:  Nature       Date:  2003-04-25       Impact factor: 49.962

8.  p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Authors:  Janbernd Kirschner; Thomas Brune; Manfred Wehnert; Jonas Denecke; Christina Wasner; Anja Feuer; Thorsten Marquardt; Uwe-Peter Ketelsen; Peter Wieacker; Carsten G Bönnemann; Rudolf Korinthenberg
Journal:  Ann Neurol       Date:  2005-01       Impact factor: 10.422

9.  Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis.

Authors:  Joanna M Bridger; Ian R Kill
Journal:  Exp Gerontol       Date:  2004-05       Impact factor: 4.032

10.  Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.

Authors:  Robert D Goldman; Dale K Shumaker; Michael R Erdos; Maria Eriksson; Anne E Goldman; Leslie B Gordon; Yosef Gruenbaum; Satya Khuon; Melissa Mendez; Renée Varga; Francis S Collins
Journal:  Proc Natl Acad Sci U S A       Date:  2004-06-07       Impact factor: 11.205
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