Literature DB >> 14684700

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

M Vytopil1, S Benedetti, E Ricci, G Galluzzi, A Dello Russo, L Merlini, G Boriani, M Gallina, L Morandi, L Politano, M Moggio, L Chiveri, I Hausmanova-Petrusewicz, R Ricotti, S Vohanka, J Toman, D Toniolo.   

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Year:  2003        PMID： 14684700      PMCID： PMC1735334          DOI： 10.1136/jmg.40.12.e132

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


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  36 in total

1.  A new LMNA mutation causing limb girdle muscular dystrophy 1B.

Authors:  Simone Spuler; Christian Geier; Karl Josef Osterziel; Matthias Gutberlet; Janine Genschel; Thomas-Nicolas Lehmann; Sophie Zinn-Justin; Bernard Gilquin; Hartmut Schmidt
Journal:  J Neurol       Date:  2005-03-29       Impact factor: 4.849

2.  First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy.

Authors:  Guo Hong; Zhou Dan; Dai Limeng; Chi Luxiang; Yun Bai
Journal:  J Genet       Date:  2014-12       Impact factor: 1.166

Review 3.  Diseases of the Nucleoskeleton.

Authors:  James M Holaska
Journal:  Compr Physiol       Date:  2016-09-15       Impact factor: 9.090

4.  Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

Authors:  Florence H J van Tienen; Patrick J Lindsey; Miriam A F Kamps; Ingrid P Krapels; Frans C S Ramaekers; Han G Brunner; Arthur van den Wijngaard; Jos L V Broers
Journal:  Eur J Hum Genet       Date:  2018-11-12       Impact factor: 4.246

5.  An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria.

Authors:  Brandon S J Davies; Richard H Barnes; Yiping Tu; Shuxun Ren; Douglas A Andres; H Peter Spielmann; Jan Lammerding; Yibin Wang; Stephen G Young; Loren G Fong
Journal:  Hum Mol Genet       Date:  2010-04-26       Impact factor: 6.150

6.  Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene.

Authors:  Wei Wu; Antoine Muchir; Jian Shan; Gisèle Bonne; Howard J Worman
Journal:  Circulation       Date:  2010-12-20       Impact factor: 29.690

7.  Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Authors:  Lucie Gueneau; Anne T Bertrand; Jean-Philippe Jais; Mustafa A Salih; Tanya Stojkovic; Manfred Wehnert; Maria Hoeltzenbein; Simone Spuler; Shinji Saitoh; Annie Verschueren; Christine Tranchant; Maud Beuvin; Emmanuelle Lacene; Norma B Romero; Simon Heath; Diana Zelenika; Thomas Voit; Bruno Eymard; Rabah Ben Yaou; Gisèle Bonne
Journal:  Am J Hum Genet       Date:  2009-08-27       Impact factor: 11.025

Review 8.  Emerin in health and disease.

Authors:  Adam J Koch; James M Holaska
Journal:  Semin Cell Dev Biol       Date:  2013-12-21       Impact factor: 7.727

9.  Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

Authors:  Wafaa Sewairi; Abdulrahman Assiri; Nisha Patel; Amal Alhashem; Fowzan S Alkuraya
Journal:  Eur J Hum Genet       Date:  2016-01-06       Impact factor: 4.246

Review 10.  The posttranslational processing of prelamin A and disease.

Authors:  Brandon S J Davies; Loren G Fong; Shao H Yang; Catherine Coffinier; Stephen G Young
Journal:  Annu Rev Genomics Hum Genet       Date:  2009       Impact factor: 8.929
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