Literature DB >> 16628197

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.

Elizabeth E Norgett, Tom W Lucke, Bill Bowers, Colin S Munro, Irene M Leigh, David P Kelsell.   

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Year:  2006        PMID： 16628197     DOI： 10.1038/sj.jid.5700291

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


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  21 in total

1.  iASPP/p63 autoregulatory feedback loop is required for the homeostasis of stratified epithelia.

Authors:  Anissa Chikh; Rubeta N H Matin; Valentina Senatore; Martin Hufbauer; Danielle Lavery; Claudio Raimondi; Paola Ostano; Maurizia Mello-Grand; Chiara Ghimenti; Adiam Bahta; Sahira Khalaf; Baki Akgül; Kristin M Braun; Giovanna Chiorino; Michael P Philpott; Catherine A Harwood; Daniele Bergamaschi
Journal:  EMBO J       Date:  2011-09-06       Impact factor: 11.598

Review 2.  Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature.

Authors:  Brittney Murray
Journal:  J Genet Couns       Date:  2012-03-17       Impact factor: 2.537

3.  Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.

Authors:  Alison G Barber; Muhammad Wajid; Morgana Columbo; Jillian Lubetkin; Angela M Christiano
Journal:  J Dermatol Sci       Date:  2006-12-27       Impact factor: 4.563

Review 4.  Dilated cardiomyopathy.

Authors:  Neal K Lakdawala; Jeffery R Winterfield; Birgit H Funke
Journal:  Circ Arrhythm Electrophysiol       Date:  2012-09-28

5.  The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.

Authors:  Daniel Vega Møller; Paal Skytt Andersen; Paula Hedley; Mads Kristian Ersbøll; Henning Bundgaard; Johanna Moolman-Smook; Michael Christiansen; Lars Køber
Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

Review 6.  Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  Mark M Awad; Hugh Calkins; Daniel P Judge
Journal:  Nat Clin Pract Cardiovasc Med       Date:  2008-04-01

7.  Identification and characterization of DSPIa, a novel isoform of human desmoplakin.

Authors:  Rita M Cabral; Hong Wan; Clare L Cole; Dominic J Abrams; David P Kelsell; Andrew P South
Journal:  Cell Tissue Res       Date:  2010-06-04       Impact factor: 5.249

8.  Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells.

Authors:  Sebastian Pieperhoff; Mareike Barth; Steffen Rickelt; Werner W Franke
Journal:  Dermatol Res Pract       Date:  2010-06-30

9.  Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.

Authors:  Martha B Dua-Awereh; Yutaka Shimomura; Liv Kraemer; Muhammad Wajid; Angela M Christiano
Journal:  J Dermatol Sci       Date:  2009-01-20       Impact factor: 4.563

10.  Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.

Authors:  T Maruthappu; A Posafalvi; S Castelletti; P J Delaney; P Syrris; E A O'Toole; K J Green; P M Elliott; P D Lambiase; A Tinker; W J McKenna; D P Kelsell
Journal:  Br J Dermatol       Date:  2019-01-02       Impact factor: 9.302
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