Estimate of the abundance of cardiomyopathic mutations in the β-myosin gene
TLDR
Data derived from seven independent genetic studies were re-analyzed using statistical methods developed by ecologists for estimating the number of species in a community to reveal that more mutations will continue to be identified as more patients are genotyped.About:
This article is published in International Journal of Cardiology.The article was published on 2010-09-24 and is currently open access. It has received 7 citations till now. The article focuses on the topics: Mutation.read more
Citations
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Population-based variation in cardiomyopathy genes
Jessica R. Golbus,Megan J. Puckelwartz,John Fahrenbach,Lisa Dellefave-Castillo,Donald Wolfgeher,Elizabeth M. McNally +5 more
TL;DR: The frequency of predicted pathogenic protein-altering variation in cardiomyopathy genes suggests that many of these variants may be insufficient to cause disease on their own but may modify phenotype in a genetically susceptible host.
Journal ArticleDOI
Structural implications of β-cardiac myosin heavy chain mutations in human disease.
TL;DR: It is shown that clusters of these mutations occur at critical points in the sequence and whether the many studies on these mutants reveal information about the function of this protein is investigated.
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Coxsackievirus B detection in cases of myocarditis, myopericarditis, pericarditis and dilated cardiomyopathy in hospitalized patients.
Imed Gaaloul,Samira Riabi,Rafik Harrath,T. C. Hunter,Khaldoun B. Hamda,Assia B. Ghzala,Sally A. Huber,Mahjoub Aouni +7 more
TL;DR: The present findings demonstrate a higher prevalence of viral heart infections, suggesting that CV-B may significantly contribute to heart infections.
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The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.
TL;DR: The data suggest that the WT embryonic myosin motor is similar in contractile speed to the slow type I/β cardiac based on the rate constant for ADP release and ADP affinity for actin-myosin.
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Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.
Carlos Vera,Chloe A. Johnson,Jonathan Walklate,Arjun S. Adhikari,Marina Svicevic,Srboljub M. Mijailovich,Ariana C. Combs,Stephen J. Langer,Kathleen M. Ruppel,James A. Spudich,Michael A. Geeves,Leslie A. Leinwand +11 more
TL;DR: This work performed steady-state and transient kinetic analyses of myosins carrying one of seven missense mutations in the motor domain to model the ATP-driven cross-bridge cycle and indicated no clear differences between early and late onset HCM mutations.
References
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Journal Article
Nonparametric estimation of the number of classes in a population
TL;DR: On applique la methode d'Efron (1981, 1982) a la construction d'intervalles de confiance bases sur des distributions du bootstrap as discussed by the authors.
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Ethical authorship and publishing
TL;DR: Principles of Ethical Publishing in the International Journal of Cardiology: that the corresponding author has the approval of all other listed authors for the submission and publication of all versions of the manuscript.
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Hypertrophic Cardiomyopathy Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy
Pascale Richard,Philippe Charron,Lucie Carrier,C. Ledeuil,Theary Cheav,Claire Pichereau,A. Benaiche,Richard Isnard,Olivier Dubourg,Marc Burban,Jean Pierre Gueffet,Alain Millaire,Michel Desnos,Ketty Schwartz,Bernard Hainque,Michel Komajda +15 more
TL;DR: A systematic screening of 9 genes in a large population to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice, found that screening of already known mutations is not helpful and several mutations should be searched.
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Properties of the Rarefaction Diversity Measurement
TL;DR: Loci, or linkage groups conforming in their demographic characteristics to the Charlesworth-Giesel model, will be maintained in a polymorphic state at little or no cost and perpetuation of population variability and adaptability is perpetuated.
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Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults
Hiroyuki Morita,Heidi L. Rehm,Andres Menesses,Barbara McDonough,Amy E. Roberts,Raju Kucherlapati,Jeffrey A. Towbin,Jonathan G. Seidman,Christine E. Seidman +8 more
TL;DR: Genetic causes account for about half of presumed sporadic cases and nearly two thirds of familial cases of childhood-onset hypertrophy and should prompt genetic analyses and family evaluations.