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Featured researches published by William J. McKenna.
Open Heart | 2018
Gabriella Captur; Eloisa Arbustini; Petros Syrris; Dina Radenkovic; Ben O'Brien; William J. McKenna; James C Moon
Objective Two LMNA genotype–phenotype cardiac correlations are reported: first, that cardiac involvement in multisystem laminopathies prevails with mutations upstream of the nuclear localisation signal (NLS); second, that worse outcomes occur with non-missense (compared with missense) mutations. We tested whether LMNA mutation DNA location and mutation subtype can predict phenotype severity in patients with lamin heart disease. Methods We used a semantic workflow platform and manual electronic literature search to identify published LMNA mutations with cardiac-predominant phenotype. Hierarchical cluster analysis (HCA) assembled lamin heart disease into classes based on phenotype severity. 176 reported causative mutations were classified and any relationships to mutation location/subtype assessed by contingency analysis. Results More adverse phenotype was associated with mutation location upstream of the NLS (p=0.014, OR 2.38, 95% CI 1.19 to 4.80) but not with non-missense mutations (p=0.337, OR 1.36, 95% CI 0.72 to 2.57), although an association with non-missense mutations was identified in a subcluster with malignant ventricular arrhythmia (p=0.005, OR 2.64, 95% CI 0.76 to 9.21). HCA limited to the 65 mutations described on ClinVar as pathogenic/likely pathogenic showed similar findings (upstream of NLS, p=0.030, OR 4.78, 95% CI 1.28 to 17.83; non-missense, p=0.121, OR 2.64, 95% CI 0.76 to 9.21) as did analysis limited to pathogenic/likely pathogenic variants according to the American College of Medical Genetics and Genomics standards. Conclusion Cardiac patients with an LMNA mutation located upstream versus downstream of the NLS have a more adverse cardiac phenotype, and some missense mutations can be as harmful as non-missense ones.
Clinical Science | 1998
H. L. Thomson; Jayne Morris-Thurgood; John Atherton; William J. McKenna; Michael P. Frenneaux
European Heart Journal | 1995
H. L. Thomson; S. Lele; John Atherton; J. Ganes; A. Britten; William J. McKenna; Michael P. Frenneaux
Российский кардиологический журнал | 2015
Perry M. Elliott; Aris Anastasakis; Michael A. Borger; Martin Borggrefe; Franco Cecchi; Philippe Charron; Albert Hagège; Antoine Lafont; Giuseppe Limongelli; Heiko Mahrholdt; William J. McKenna; Jens Mogensen; Petros Nihoyannopoulos; Stefano Nistri; Petronella G. Pieper; Burkert Pieske; Claudio Rapezzi; Frans H. Rutten; Christoph Tillmanns; Hugh Watkins; Constantinos O’Mahony
Archive | 2015
Srijita Sen-Chowdhry; William J. McKenna
Archive | 2013
Jonathan H. Goldman; Rahat S. Warraich; Philip J. Keeling; Simon Redwood; Perry M. Elliott; William J. McKenna; Masakazu Obayashi; Michihiro Kohno; Masahumi Yano; Shigeki Kobayashi; Tsutomu Ryouke; Tomoko Ohkusa; Masunori Matsuzaki; Edward L. Yellin; Steven B. Solomon; William Stevenson-Smith
Archive | 2012
Sanjay Sharma; John Rawlins; William J. McKenna
Archive | 2012
Barry J. Maron; William J. McKenna
Archive | 2011
William J. McKenna; Pablo García-Pavía; Deirdre Ward; Srijita Sen-Chowdhry; Perry M. Elliott; Giovanni Quarta; Alison Muir; Antonios Pantazis; Petros Syrris; Katja Gehmlich
Archive | 2011
William J. McKenna; Robert Merrifield; Gillian C. Smith; David Firmin; Dudley J. Pennell; Sanjay K. Prasad; Petros Syrris