Literature DB >> 8595433

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function.

V Nigro1, P Bruni, A Ciccodicola, L Politano, G Nigro, G Piluso, V Cappa, A E Covone, G Romeo, M D'Urso.   

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Year:  1995        PMID： 8595433     DOI： 10.1093/hmg/4.10.2003

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  8 in total

1.  Isolation and characterization of the complete mouse emerin gene.

Authors:  K Small; M Wagener; S T Warren
Journal:  Mamm Genome       Date:  1997-05       Impact factor: 2.957

Review 2.  Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.

Authors:  Matthew J Stroud; Indroneal Banerjee; Jennifer Veevers; Ju Chen
Journal:  Circ Res       Date:  2014-01-31       Impact factor: 17.367

3.  Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies.

Authors:  G Lattanzi; S Benedetti; E Bertini; G Boriani; L Mazzanti; G Novelli; R Pasquali; A Pini; L Politano
Journal:  Acta Myol       Date:  2011-10

4.  Probing the Environment of Emerin by Enhanced Ascorbate Peroxidase 2 (APEX2)-Mediated Proximity Labeling.

Authors:  Marret Müller; Christina James; Christof Lenz; Henning Urlaub; Ralph H Kehlenbach
Journal:  Cells       Date:  2020-03-03       Impact factor: 6.600

5.  Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients.

Authors:  Vincenzo Russo; Anna Rago; Luisa Politano; Andrea Antonio Papa; Federica Di Meo; Maria Giovanna Russo; Paolo Golino; Raffaele Calabrò; Gerardo Nigro
Journal:  Med Sci Monit       Date:  2012-11

6.  The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.

Authors:  Valerie L R M Verstraeten; Sandrine Caputo; Maurice A M van Steensel; Isabelle Duband-Goulet; Sophie Zinn-Justin; Miriam Kamps; Helma J H Kuijpers; Cecilia Ostlund; Howard J Worman; Jacob J Briedé; Caroline Le Dour; Carlo L M Marcelis; Michel van Geel; Peter M Steijlen; Arthur van den Wijngaard; Frans C S Ramaekers; Jos L V Broers
Journal:  J Cell Mol Med       Date:  2009-02-11       Impact factor: 5.310

Review 7.  Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy.

Authors:  Matthew J Stroud
Journal:  Biophys Rev       Date:  2018-06-04

8.  X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.

Authors:  Emanuela Viggiano; Agnieszka Madej-Pilarczyk; Nicola Carboni; Esther Picillo; Manuela Ergoli; Stefania Del Gaudio; Michal Marchel; Gerardo Nigro; Alberto Palladino; Luisa Politano
Journal:  Genes (Basel)       Date:  2019-11-11       Impact factor: 4.096
  8 in total

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