Literature DB >> 16537768

Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.

S Kärkkäinen, E Reissell, T Heliö, M Kaartinen, P Tuomainen, L Toivonen, J Kuusisto, M Kupari, M S Nieminen, M Laakso, K Peuhkurinen.   

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Year:  2006        PMID： 16537768      PMCID： PMC1860858          DOI： 10.1136/hrt.2004.056721

Source DB:  PubMed          Journal:  Heart        ISSN： 1355-6037            Impact factor:   5.994


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  6 in total

1.  Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

Authors:  Matthew R G Taylor; Pamela R Fain; Gianfranco Sinagra; Misi L Robinson; Alastair D Robertson; Elisa Carniel; Andrea Di Lenarda; Teresa J Bohlmeyer; Debra A Ferguson; Gary L Brodsky; Mark M Boucek; Jean Lascor; Andrew C Moss; Wai Lun P Li; Gary L Stetler; Francesco Muntoni; Michael R Bristow; Luisa Mestroni
Journal:  J Am Coll Cardiol       Date:  2003-03-05       Impact factor: 24.094

2.  Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Authors:  D Fatkin; C MacRae; T Sasaki; M R Wolff; M Porcu; M Frenneaux; J Atherton; H J Vidaillet; S Spudich; U De Girolami; J G Seidman; C Seidman; F Muntoni; G Müehle; W Johnson; B McDonough
Journal:  N Engl J Med       Date:  1999-12-02       Impact factor: 91.245

3.  Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

Authors:  Eloisa Arbustini; Andrea Pilotto; Alessandra Repetto; Maurizia Grasso; Andrea Negri; Marta Diegoli; Carlo Campana; Laura Scelsi; Elisa Baldini; Antonello Gavazzi; Luigi Tavazzi
Journal:  J Am Coll Cardiol       Date:  2002-03-20       Impact factor: 24.094

4.  A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.

Authors:  Satu Kärkkäinen; Tiina Heliö; Raija Miettinen; Petri Tuomainen; Paula Peltola; Juha Rummukainen; Kari Ylitalo; Maija Kaartinen; Johanna Kuusisto; Lauri Toivonen; Markku S Nieminen; Markku Laakso; Keijo Peuhkurinen
Journal:  Eur Heart J       Date:  2004-05       Impact factor: 29.983

5.  Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.

Authors:  Laura Verga; Monica Concardi; Andrea Pilotto; Ornella Bellini; Michele Pasotti; Alessandra Repetto; Luigi Tavazzi; Eloisa Arbustini
Journal:  Virchows Arch       Date:  2003-07-26       Impact factor: 4.064

Review 6.  Molecular mechanisms of inherited cardiomyopathies.

Authors:  Diane Fatkin; Robert M Graham
Journal:  Physiol Rev       Date:  2002-10       Impact factor: 37.312
  6 in total
  17 in total

Review 1.  Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.

Authors:  Thomas E Callis; Brian C Jensen; Karen E Weck; Monte S Willis
Journal:  Expert Rev Mol Diagn       Date:  2010-04       Impact factor: 5.225

2.  Left ventricular noncompaction in a family with lamin A/C gene mutation.

Authors:  John J Parent; Jeffrey A Towbin; John L Jefferies
Journal:  Tex Heart Inst J       Date:  2015-02-01

Review 3.  Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

Authors:  Ray E Hershberger; Jill D Siegfried
Journal:  J Am Coll Cardiol       Date:  2011-04-19       Impact factor: 24.094

Review 4.  Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

Authors:  Ray E Hershberger; Dale J Hedges; Ana Morales
Journal:  Nat Rev Cardiol       Date:  2013-07-30       Impact factor: 32.419

Review 5.  Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.

Authors:  Elham Kayvanpour; Farbod Sedaghat-Hamedani; Ali Amr; Alan Lai; Jan Haas; Daniel B Holzer; Karen S Frese; Andreas Keller; Katrin Jensen; Hugo A Katus; Benjamin Meder
Journal:  Clin Res Cardiol       Date:  2016-08-30       Impact factor: 5.460

6.  A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report.

Authors:  Nicoletta Botto; Simona Vittorini; Maria Giovanna Colombo; Andrea Biagini; Umberto Paradossi; Giovanni Aquaro; Maria Grazia Andreassi
Journal:  Cardiovasc Ultrasound       Date:  2010-03-22       Impact factor: 2.062

7.  Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Authors:  Sharie B Parks; Jessica D Kushner; Deirdre Nauman; Donna Burgess; Susan Ludwigsen; Amanda Peterson; Duanxiang Li; Petra Jakobs; Michael Litt; Charles B Porter; Peter S Rahko; Ray E Hershberger
Journal:  Am Heart J       Date:  2008-03-12       Impact factor: 4.749

8.  Profiling non-HLA antibody responses in antibody-mediated rejection following heart transplantation.

Authors:  Sarah B See; Benjamin S Mantell; Kevin J Clerkin; Bryan Ray; E Rodica Vasilescu; Charles C Marboe; Yoshifumi Naka; Susan Restaino; Paolo C Colombo; Linda J Addonizio; Maryjane A Farr; Emmanuel Zorn
Journal:  Am J Transplant       Date:  2020-04-26       Impact factor: 8.086

9.  Lamin A/C gene and the heart: how genetics may impact clinical care.

Authors:  Luisa Mestroni; Matthew R G Taylor
Journal:  J Am Coll Cardiol       Date:  2008-10-07       Impact factor: 24.094

10.  Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

Authors:  Larysa N Sivitskaya; Nina G Danilenko; Tatiyana G Vaikhanskaya; Tatsiyana V Kurushka; Oleg G Davydenko
Journal:  Acta Myol       Date:  2017-12-01
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