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A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay

Published on Feb 5, 2019in Circulation23.05
· DOI :10.1161/CIRCULATIONAHA.118.034624
Timon Seeger10
Estimated H-index: 10
(Stanford University),
Rajani Shrestha3
Estimated H-index: 3
(Stanford University)
+ 16 AuthorsJoseph C. Wu87
Estimated H-index: 87
(Stanford University)
Abstract
Background: Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in myosin-binding protein C3 (MYBPC3) resulting in a premature termination codon (PTC). The underlying mechanisms of ...
  • References (24)
  • Citations (5)
References24
Newest
#1Ning Ma (Cardiovascular Institute of the South)H-Index: 3
#2Joe Z. Zhang (Cardiovascular Institute of the South)H-Index: 3
Last.Rajani Shrestha (Cardiovascular Institute of the South)H-Index: 3
view all 14 authors...
#1Maksymilian Prondzynski (UHH: University of Hamburg)H-Index: 6
#2Elisabeth Krämer (UHH: University of Hamburg)H-Index: 10
Last.HansenArne (UHH: University of Hamburg)H-Index: 23
view all 14 authors...
#1Vittavat Termglinchan (Stanford University)H-Index: 9
#2Timon Seeger (Stanford University)H-Index: 10
Last.Ioannis Karakikes (Stanford University)H-Index: 26
view all 5 authors...
#1Matthew J. Birket (LUMC: Leiden University Medical Center)H-Index: 5
#2Marcelo C. Ribeiro (LUMC: Leiden University Medical Center)H-Index: 6
Last.Pier G. Mastroberardino (EUR: Erasmus University Rotterdam)H-Index: 23
view all 13 authors...
#1Rachid Karam (UCSD: University of California, San Diego)H-Index: 12
#2Chih-Hong Lou (UCSD: University of California, San Diego)H-Index: 3
Last.Miles F. Wilkinson (UCSD: University of California, San Diego)H-Index: 47
view all 6 authors...
#1David Barefield (LUC: Loyola University Chicago)H-Index: 12
#2Mohit Kumar (LUC: Loyola University Chicago)H-Index: 5
Last.Sakthivel Sadayappan (LUC: Loyola University Chicago)H-Index: 27
view all 7 authors...
Cited By5
Newest
#1Leili Rohani (U of C: University of Calgary)H-Index: 2
#2Pranav Machiraju (U of C: University of Calgary)H-Index: 1
Last.Aneal Khan (U of C: University of Calgary)H-Index: 13
view all 0 authors...
#1Jaecheol LeeH-Index: 10
#2Vittavat Termglinchan (Cardiovascular Institute of the South)H-Index: 9
Last.Haodi Wu (Cardiovascular Institute of the South)H-Index: 18
view all 24 authors...
#1Arne Bruyneel (Stanford University)H-Index: 5
#2Tyler Muser (Stanford University)
Last.Mark Mercola (Stanford University)H-Index: 49
view all 5 authors...
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