Literature DB >> 20016501

PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

Maria C Bolling, Hendri H Pas, Marianne de Visser, Eleonora Aronica, Ellen G Pfendner, Maarten P van den Berg, Gilles F H Diercks, Albert J H Suurmeijer, Marcel F Jonkman.   

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Year:  2009        PMID： 20016501     DOI： 10.1038/jid.2009.390

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  17 in total

1.  Isolation and analysis of genes mainly expressed in adult mouse heart using subtractive hybridization cDNA library.

Authors:  Evrim Komurcu-Bayrak; Bilge Ozsait; Nihan Erginel-Unaltuna
Journal:  Mol Biol Rep       Date:  2012-04-29       Impact factor: 2.316

Review 2.  Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.

Authors:  Jana Kyrova; Lenka Kopeckova; Hana Buckova; Lenka Mrazova; Karel Vesely; Marketa Hermanova; Hana Oslejskova; Lenka Fajkusova
Journal:  J Dermatol Case Rep       Date:  2016-11-30

Review 3.  [Syndromes with skin fragility].

Authors:  A Reimer; C Has
Journal:  Hautarzt       Date:  2019-07       Impact factor: 0.751

4.  Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.

Authors:  Viktoria Szabadosova; Iveta Boronova; Peter Ferenc; Iveta Tothova; Jarmila Bernasovska; Michaela Zigova; Jan Kmec; Ivan Bernasovsky
Journal:  J Clin Lab Anal       Date:  2017-06-08       Impact factor: 2.352

Review 5.  Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases.

Authors:  Jamal-Eddine Bouameur; Bertrand Favre; Luca Borradori
Journal:  J Invest Dermatol       Date:  2013-12-19       Impact factor: 8.551

6.  Myasthenic syndrome caused by plectinopathy.

Authors:  D Selcen; V C Juel; L D Hobson-Webb; E C Smith; D E Stickler; A V Bite; K Ohno; A G Engel
Journal:  Neurology       Date:  2011-01-25       Impact factor: 9.910

Review 7.  Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.

Authors:  Babken Asatryan; Argelia Medeiros-Domingo
Journal:  J Mol Med (Berl)       Date:  2018-08-20       Impact factor: 4.599

8.  Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

Authors:  Hulya Gundesli; Beril Talim; Petek Korkusuz; Burcu Balci-Hayta; Sebahattin Cirak; Nurten A Akarsu; Haluk Topaloglu; Pervin Dincer
Journal:  Am J Hum Genet       Date:  2010-11-25       Impact factor: 11.025

9.  A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.

Authors:  Rosa B Thorolfsdottir; Gardar Sveinbjornsson; Patrick Sulem; Anna Helgadottir; Solveig Gretarsdottir; Stefania Benonisdottir; Audur Magnusdottir; Olafur B Davidsson; Sridharan Rajamani; Dan M Roden; Dawood Darbar; Terje R Pedersen; Marc S Sabatine; Ingileif Jonsdottir; David O Arnar; Unnur Thorsteinsdottir; Daniel F Gudbjartsson; Hilma Holm; Kari Stefansson
Journal:  J Am Coll Cardiol       Date:  2017-10-24       Impact factor: 24.094

Review 10.  Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.

Authors:  Maria J Castañón; Gernot Walko; Lilli Winter; Gerhard Wiche
Journal:  Histochem Cell Biol       Date:  2013-06-09       Impact factor: 4.304
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