Literature DB >> 15286156

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.

M Plasilova, C Chattopadhyay, P Pal, N A Schaub, S A Buechner, Hj Mueller, P Miny, A Ghosh, K Heinimann.   

Abstract

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Year:  2004        PMID： 15286156      PMCID： PMC1735873          DOI： 10.1136/jmg.2004.019661

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


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  28 in total

Review 1.  Laminopathies: multiple disorders arising from defects in nuclear architecture.

Authors:  Veena K Parnaik; Kaliyaperumal Manju
Journal:  J Biosci       Date:  2006-09       Impact factor: 1.826

Review 2.  Nuclear mechanics in disease.

Authors:  Monika Zwerger; Chin Yee Ho; Jan Lammerding
Journal:  Annu Rev Biomed Eng       Date:  2011-08-15       Impact factor: 9.590

Review 3.  Mouse models of the laminopathies.

Authors:  Colin L Stewart; Serguei Kozlov; Loren G Fong; Stephen G Young
Journal:  Exp Cell Res       Date:  2007-03-31       Impact factor: 3.905

Review 4.  Looking for disease being a model of human aging.

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

Review 5.  Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.

Authors:  Muhammad Saad Ahmed; Sana Ikram; Nousheen Bibi; Asif Mir
Journal:  Mol Neurobiol       Date:  2017-06-28       Impact factor: 5.590

6.  Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.

Authors:  Zahid Ahmad; Elaine Zackai; Livija Medne; Abhimanyu Garg
Journal:  Am J Med Genet A       Date:  2010-11       Impact factor: 2.802

Review 7.  Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.

Authors:  Konstantinos Dean Boudoulas; Peter J Mohler
Journal:  Acta Pharmacol Sin       Date:  2011-06       Impact factor: 6.150

Review 8.  Is schizophrenia a syndrome of accelerated aging?

Authors:  Brian Kirkpatrick; Erick Messias; Philip D Harvey; Emilio Fernandez-Egea; Christopher R Bowie
Journal:  Schizophr Bull       Date:  2007-12-21       Impact factor: 9.306

9.  Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome.

Authors:  Renee Varga; Maria Eriksson; Michael R Erdos; Michelle Olive; Ingrid Harten; Frank Kolodgie; Brian C Capell; Jun Cheng; Dina Faddah; Stacie Perkins; Hedwig Avallone; Hong San; Xuan Qu; Santhi Ganesh; Leslie B Gordon; Renu Virmani; Thomas N Wight; Elizabeth G Nabel; Francis S Collins
Journal:  Proc Natl Acad Sci U S A       Date:  2006-02-21       Impact factor: 11.205

Review 10.  From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing.

Authors:  L S Cox; R G A Faragher
Journal:  Cell Mol Life Sci       Date:  2007-10       Impact factor: 9.261
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