Literature DB >> 15121795

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

K Fukuchi1, T Katsuya, K Sugimoto, M Kuremura, H D Kim, L Li, T Ogihara.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15121795      PMCID： PMC1735754          DOI： 10.1136/jmg.2003.014688

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  29 in total

Review 1.  Progeria syndromes and ageing: what is the connection?

Authors:  Christopher R Burtner; Brian K Kennedy
Journal:  Nat Rev Mol Cell Biol       Date:  2010-08       Impact factor: 94.444

Review 2.  Skin Disease in Laminopathy-Associated Premature Aging.

Authors:  Tomás McKenna; Agustín Sola Carvajal; Maria Eriksson
Journal:  J Invest Dermatol       Date:  2015-07-29       Impact factor: 8.551

3.  Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

Authors:  Fuki M Hisama; Davor Lessel; Dru Leistritz; Katrin Friedrich; Kim L McBride; Matthew T Pastore; Gary S Gottesman; Bidisha Saha; George M Martin; Christian Kubisch; Junko Oshima
Journal:  Am J Med Genet A       Date:  2011-11-07       Impact factor: 2.802

4.  Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

Authors:  Lieve Sevenants; Carine Wouters; Annachiara De Sandre-Giovannoli; Hugo Devlieger; Koen Devriendt; Joost J van den Oord; Karel Marien; Nicolas Lévy; Marie-Anne Morren
Journal:  Eur J Pediatr       Date:  2005-02-22       Impact factor: 3.183

5.  Collagen expression in fibroblasts with a novel LMNA mutation.

Authors:  Desiree Nguyen; Dru F Leistritz; Lesley Turner; David MacGregor; Kamal Ohson; Paul Dancey; George M Martin; Junko Oshima
Journal:  Biochem Biophys Res Commun       Date:  2006-11-27       Impact factor: 3.575

6.  Mislocalization of prelamin A Tyr646Phe mutant to the nuclear pore complex in human embryonic kidney 293 cells.

Authors:  Yong Pan; Abhimanyu Garg; Anil K Agarwal
Journal:  Biochem Biophys Res Commun       Date:  2007-01-31       Impact factor: 3.575

7.  Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Authors:  Florian Barthélémy; Claire Navarro; Racha Fayek; Nathalie Da Silva; Patrice Roll; Sabine Sigaudy; Junko Oshima; Gisèle Bonne; Kyriaki Papadopoulou-Legbelou; Athanasios E Evangeliou; Martha Spilioti; Martine Lemerrer; Ron A Wevers; Eva Morava; Andrée Robaglia-Schlupp; Nicolas Lévy; Marc Bartoli; Annachiara De Sandre-Giovannoli
Journal:  Eur J Hum Genet       Date:  2015-02-04       Impact factor: 4.246

Review 8.  Looking for disease being a model of human aging.

Authors:  I Hausmanowa-Petrusewicz; A Madej-Pilarczyk
Journal:  Acta Myol       Date:  2007-10

9.  Direct actin binding to A- and B-type lamin tails and actin filament bundling by the lamin A tail.

Authors:  Dan N Simon; Michael S Zastrow; Katherine L Wilson
Journal:  Nucleus       Date:  2010-03-11       Impact factor: 4.197

10.  Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A.

Authors:  Shurong Huang; Rosa Ana Risques; George M Martin; Peter S Rabinovitch; Junko Oshima
Journal:  Exp Cell Res       Date:  2007-08-16       Impact factor: 3.905
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.