Showing papers by "Thomas J. Cahill published in 2010"

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Journal Article•DOI•

Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

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Katja Gehmlich¹, Angeliki Asimaki², Thomas J. Cahill¹, Elisabeth Ehler³, Petros Syrris¹, Elisabetta Zachara, Federica Re, Andrea Avella, Lorenzo Monserrat, Jeffrey E. Saffitz², William J. McKenna¹ - Show less +7 more•Institutions (3)

University College London¹, Beth Israel Deaconess Medical Center², Randall Division of Cell and Molecular Biophysics³

01 Oct 2010-Heart Rhythm

TL;DR: Loss of plakoglobin immunoreactivity from the intercalated disks appears to be the endpoint of complex pathologic changes, and functional data suggest that yet unknown posttranslational modifications of desmoglein-2 might be involved.

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34 citations