H Watkins

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi request reprint Genotype at the -174G/C polymorphism of the interleukin-6 gene is associated with common carotid artery intimal-medial thickness: family study and meta-analysis
    Bongani M Mayosi
    Department of Cardiovascular Medicine, University of Oxford, Oxford, United Kingdom
    Stroke 36:2215-9. 2005
  2. doi request reprint Genome-wide linkage analysis of electrocardiographic and echocardiographic left ventricular hypertrophy in families with hypertension
    Bongani M Mayosi
    Department of Medicine, University of Cape Town, J Floor Old Main Building, Groote Schuur Hospital, Anzio Road Observatory, Cape Town 7925, W Cape, South Africa
    Eur Heart J 29:525-30. 2008
  3. doi request reprint The genetics of hypertrophic cardiomyopathy: Teare redux
    H Watkins
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Heart 94:1264-8. 2008
  4. pmc In vivo mouse cardiac hyperpolarized magnetic resonance spectroscopy
    Michael S Dodd
    Cardiac Metabolism Research Group, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
    J Cardiovasc Magn Reson 15:19. 2013
  5. pmc Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice - a one year longitudinal MRI study
    Jurgen E Schneider
    Department of Cardiovascular Medicine, University of Oxford, Oxford, UK
    J Cardiovasc Magn Reson 10:9. 2008
  6. pmc Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
    Luzuko O Matolweni
    The Cardiac Clinic, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa
    BMC Med Genet 7:29. 2006
  7. pmc Changes in creatine transporter function during cardiac maturation in the rat
    Alexandra Fischer
    Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
    BMC Dev Biol 10:70. 2010
  8. ncbi request reprint Genetic susceptibility to coronary artery disease: from promise to progress
    Hugh Watkins
    Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK
    Nat Rev Genet 7:163-73. 2006
  9. ncbi request reprint Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy
    Jenifer G Crilley
    MRC Biochemical and Clinical Magnetic Resonance Unit, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford, United Kingdom
    J Am Coll Cardiol 41:1776-82. 2003
  10. pmc Mice over-expressing the myocardial creatine transporter develop progressive heart failure and show decreased glycolytic capacity
    Darci Phillips
    Department of Cardiovascular Medicine, University of Oxford, Henry Wellcome Building of Genomic Medicine, Roosevelt Drive, Oxford OX3 7BN, UK
    J Mol Cell Cardiol 48:582-90. 2010

Detail Information

Publications67

  1. ncbi request reprint Genotype at the -174G/C polymorphism of the interleukin-6 gene is associated with common carotid artery intimal-medial thickness: family study and meta-analysis
    Bongani M Mayosi
    Department of Cardiovascular Medicine, University of Oxford, Oxford, United Kingdom
    Stroke 36:2215-9. 2005
    ..We have used a family-based genetic association design to assess the heritability of carotid IMT and to investigate the hypothesized association of carotid IMT with the IL-6 to -174G/C polymorphism...
  2. doi request reprint Genome-wide linkage analysis of electrocardiographic and echocardiographic left ventricular hypertrophy in families with hypertension
    Bongani M Mayosi
    Department of Medicine, University of Cape Town, J Floor Old Main Building, Groote Schuur Hospital, Anzio Road Observatory, Cape Town 7925, W Cape, South Africa
    Eur Heart J 29:525-30. 2008
    ..To localize chromosomal regions (or quantitative trait loci) that harbour genetic variants influencing the variability of electrocardiographic (ECG) and echocardiographic left ventricular hypertrophy (LVH)...
  3. doi request reprint The genetics of hypertrophic cardiomyopathy: Teare redux
    H Watkins
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Heart 94:1264-8. 2008
  4. pmc In vivo mouse cardiac hyperpolarized magnetic resonance spectroscopy
    Michael S Dodd
    Cardiac Metabolism Research Group, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK
    J Cardiovasc Magn Reson 15:19. 2013
    ..Translation from the rat to the mouse is challenging, due in part to the reduced heart size (1/10(th)) and the increased heart rate (50%) in the mouse compared to the rat...
  5. pmc Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice - a one year longitudinal MRI study
    Jurgen E Schneider
    Department of Cardiovascular Medicine, University of Oxford, Oxford, UK
    J Cardiovasc Magn Reson 10:9. 2008
    ..Since creatine plays an important role in the buffering and transfer of high-energy phosphate bonds in the heart, it was hypothesized that lack of creatine would be detrimental for resting cardiac performance during ageing...
  6. pmc Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
    Luzuko O Matolweni
    The Cardiac Clinic, Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa
    BMC Med Genet 7:29. 2006
    ..By linkage analysis, ARVC type 6 was previously mapped to a 10.6 cM region on chromosome 10p12-p14 in a large North American kindred. To date, the genetic defect that causes ARVC6 has not been identified...
  7. pmc Changes in creatine transporter function during cardiac maturation in the rat
    Alexandra Fischer
    Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK
    BMC Dev Biol 10:70. 2010
    ....
  8. ncbi request reprint Genetic susceptibility to coronary artery disease: from promise to progress
    Hugh Watkins
    Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK
    Nat Rev Genet 7:163-73. 2006
    ..Recent findings particularly highlight the link between CAD and inflammation and immunity, and highlight the biological insights to be gained from a genetic understanding of the world's biggest killer...
  9. ncbi request reprint Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy
    Jenifer G Crilley
    MRC Biochemical and Clinical Magnetic Resonance Unit, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford, United Kingdom
    J Am Coll Cardiol 41:1776-82. 2003
    ....
  10. pmc Mice over-expressing the myocardial creatine transporter develop progressive heart failure and show decreased glycolytic capacity
    Darci Phillips
    Department of Cardiovascular Medicine, University of Oxford, Henry Wellcome Building of Genomic Medicine, Roosevelt Drive, Oxford OX3 7BN, UK
    J Mol Cell Cardiol 48:582-90. 2010
    ....
  11. ncbi request reprint Animal models of familial hypertrophic cardiomyopathy
    H Farza
    Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford, UK OX3 7BN
    Mol Med Today 5:544-5. 1999
  12. ncbi request reprint Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein
    C Redwood
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Circ Res 86:1146-52. 2000
    ..Further, these findings underscore the importance of studying mixed mutant:wild-type preparations to faithfully model this autosomal-dominant disease...
  13. ncbi request reprint Differentiation of athlete's heart from pathological forms of cardiac hypertrophy by means of geometric indices derived from cardiovascular magnetic resonance
    Steffen E Petersen
    Department of Cardiovascular Medicine, University of Oxford, Centre for Clinical Magnetic Resonance Research, John Radcliffe Hospital, UK
    J Cardiovasc Magn Reson 7:551-8. 2005
    ....
  14. ncbi request reprint Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice
    Michiel Ten Hove
    Department of Cardiovascular Medicine, University of Oxford, Oxford, England
    Circulation 111:2477-85. 2005
    ..To characterize the role of a substantially impaired CK/PCr system in heart, we studied the cardiac phenotype of wild-type (WT) and GAMT-/- mice...
  15. ncbi request reprint Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations
    Lucy E Hudsmith
    University of Oxford Centre for Clinical Magnetic Resonance Research OCMR, Oxford, UK
    Int J Cardiovasc Imaging 22:493-5. 2006
    ....
  16. ncbi request reprint In vivo cardiac 1H-MRS in the mouse
    Jurgen E Schneider
    Department of Cardiovascular Medicine, University of Oxford, UK
    Magn Reson Med 52:1029-35. 2004
    ..Creatine deficiency was confirmed noninvasively in myocardium of anesthetized GAMT-/- mice. This is the first study to report the application of cardiac 1H-MRS in mice in vivo...
  17. ncbi request reprint Sex-specific characteristics of cardiac function, geometry, and mass in young adult elite athletes
    Steffen E Petersen
    University of Oxford Centre for Clinical Magnetic Resonance Research, University of Oxford, John Radcliffe Hospital, Oxford, UK
    J Magn Reson Imaging 24:297-303. 2006
    ..To study young adult elite athletes with age- and sex-matched sedentary controls to assess sex-specific differences for left ventricular (LV) and right ventricular (RV) volumes and mass as well as for LV contraction and relaxation...
  18. ncbi request reprint Evidence for microvascular dysfunction in hypertrophic cardiomyopathy: new insights from multiparametric magnetic resonance imaging
    Steffen E Petersen
    University of Oxford Centre for Clinical Magnetic Resonance Research, Department of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, OX3 9DU, UK
    Circulation 115:2418-25. 2007
    ....
  19. ncbi request reprint Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy
    Edward Blair
    Department of Cardiovascular Medicine, University of Oxford and John Radcliffe Hospital, Oxford, UK
    Circ Res 90:263-9. 2002
    ..We conclude that mutation of the LMM can cause HCM and that such mutations may act through novel mechanisms of disease pathogenesis involving myosin filament assembly or interaction with thick filament binding proteins...
  20. doi request reprint DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
    Sarah Wordsworth
    Health Economics Research Centre, University of Oxford, Old Road Campus, Oxford OX3 7LF, UK
    Eur Heart J 31:926-35. 2010
    ..Conclusion The use of molecular genetic information in the diagnosis and management of HCM is a cost-effective approach to the primary prevention of SCD in these patients...
  21. pmc Heterozygous disruption of SERCA2a is not associated with impairment of cardiac performance in humans: implications for SERCA2a as a therapeutic target in heart failure
    B M Mayosi
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Heart 92:105-9. 2006
    ..To verify whether a deficiency in the cardiac sarcoplasmic reticulum pump SERCA2a causes cardiac dysfunction in humans...
  22. ncbi request reprint Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy
    K Elliott
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom
    J Biol Chem 275:22069-74. 2000
    ..The observed decreased inhibition and increased calcium sensitivity suggest that these mutations may cause HCM via impaired relaxation rather than the impaired contraction seen with some other classes of HCM mutants...
  23. doi request reprint (31)P cardiac magnetic resonance spectroscopy during leg exercise at 3 Tesla
    Lucy E Hudsmith
    The University of Oxford Centre for Clinical Magnetic Resonance Research, Department of Cardiovascular Medicine, Oxford, OX3 9DU, UK
    Int J Cardiovasc Imaging 25:819-26. 2009
    ..When applied to patients with heart disease, this protocol should provide insights into physiological and pathological cardiac metabolism...
  24. ncbi request reprint Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency
    Steven Marston
    Department of Cardiovascular Medicine, University of Oxford, Level 6 West Wing, John Radcliffe Hospital, Oxford OX39DU, United Kingdom
    Circ Res 105:219-22. 2009
    ..The potential exceptions are mutations in the MYBPC3 gene (encoding cardiac myosin-binding protein-C [MyBP-C]), which frequently encode truncated proteins...
  25. pmc Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility
    David Burton
    University Laboratory of Physiology, University of Oxford, Parks Road, Oxford OX1 3PT, UK
    Biochem J 362:443-51. 2002
    ....
  26. ncbi request reprint Electrocardiographic measures of left ventricular hypertrophy show greater heritability than echocardiographic left ventricular mass
    B M Mayosi
    Department of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, UK
    Eur Heart J 23:1963-71. 2002
    ..To assess the heritability (i.e. relative contribution of genetic factors to the variability) of continuous measures of left ventricular hypertrophy determined by electrocardiography and echocardiography...
  27. doi request reprint Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle
    E Flashman
    The Department of Cardiovascular Medicine, University of Oxford, Oxford, UK
    FEBS Lett 582:434-8. 2008
    ..These data have implications for the role and quaternary structure of MyBPC in skeletal muscle...
  28. ncbi request reprint Novel estrogen receptor alpha promoter polymorphism increases ventricular hypertrophic response to hypertension
    G A Figtree
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    J Steroid Biochem Mol Biol 103:110-8. 2007
    ..We conclude that a novel polymorphism in the promoter of a cardiac mRNA splice isoform of ERalpha is associated with LVH...
  29. ncbi request reprint Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis
    E Blair
    Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Hum Mol Genet 10:1215-20. 2001
    ..This conclusion should radically redirect thinking about this disorder and also, by establishing energy depletion as a cause of myocardial dysfunction, should be relevant to the acquired forms of heart muscle disease that HCM models...
  30. pmc Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17
    Martin Farrall
    Department of Cardiovascular Medicine, University of Oxford, Oxford, United Kingdom
    PLoS Genet 2:e72. 2006
    ..The region on Chromosome 17 provides a compelling target within which to identify novel genes underlying CAD. Understanding the genetic aetiology of CAD may lead to novel preventative and/or therapeutic strategies...
  31. ncbi request reprint Measured haplotype analysis of the aldosterone synthase gene and heart size
    Bongani M Mayosi
    Department of Cardiovascular Medicine, University of Oxford, The Wellcome Trust Centre for Human Genetics, Oxford, UK
    Eur J Hum Genet 11:395-401. 2003
    ..These results point to the importance of analysing the full extent of genetic variation that captures the haplotype structure of a locus in gene association studies...
  32. ncbi request reprint Cardiac myosin binding protein C: its role in physiology and disease
    Emily Flashman
    Department of Cardiovascular Medicine, University of Oxford, UK
    Circ Res 94:1279-89. 2004
    ..We also speculate on the mechanisms by which hypertrophic cardiomyopathy-causing truncation and missense mutations affect the normal functioning of the sarcomere...
  33. doi request reprint Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy
    Sebastian Carballo
    Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre for Human Genetics, Oxford United Kingdom
    Circ Res 105:375-82. 2009
    ..One contractile protein gene well known as a hypertrophic cardiomyopathy disease gene, but with no reported mutation in autosomal dominant DCM, is TNNI3 which encodes cardiac troponin I...
  34. ncbi request reprint Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion
    Houman Ashrafian
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Trends Genet 19:263-8. 2003
    ....
  35. pmc Synchronous in situ ATPase activity, mechanics, and Ca2+ sensitivity of human and porcine myocardium
    P J Griffiths
    Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, United Kingdom
    Biophys J 97:2503-12. 2009
    ..ATPase activity and pCa(50%) were unaffected by flash-freezing. The lower ATPase activity measured in human tissue suggests a slower actomyosin turnover by the contractile proteins...
  36. doi request reprint Genetic variants associated with Lp(a) lipoprotein level and coronary disease
    Robert Clarke
    Clinical Trial Service Unit, University of Oxford, Oxford, United Kingdom
    N Engl J Med 361:2518-28. 2009
    ..The genetic determinants of the Lp(a) lipoprotein level and their relevance for the risk of coronary disease are incompletely understood...
  37. ncbi request reprint Is Wolff-Parkinson-White syndrome a genetic disease?
    Javed Ehtisham
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    J Cardiovasc Electrophysiol 16:1258-62. 2005
    ..Where WPW is inherited as a familial trait, with or without associated cardiac defects or a systemic syndrome, there are clinical genetic ramifications that are already of practical importance...
  38. ncbi request reprint Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments
    Paul Robinson
    Department of Cardiovascular Medicine, University of Oxford, United Kingdom
    Circ Res 101:1266-73. 2007
    ..This represents a novel mechanism for this class of mutation...
  39. ncbi request reprint Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p
    Helen M Broadbent
    Department of Cardiovascular Medicine, University of Oxford, UK
    Hum Mol Genet 17:806-14. 2008
    ..A large antisense non-coding RNA gene (ANRIL) collocates with the high-risk haplotype, is expressed in tissues and cell types that are affected by atherosclerosis and is a prime candidate gene for the chromosome 9p CAD locus...
  40. ncbi request reprint Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis
    Sandra Marisa J Oliveira
    WTCHG, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    J Mol Cell Cardiol 35:1251-5. 2003
    ..As deleterious alleles were not found in other AMPK subunit isoforms, the mutations affecting PRKAG2 are likely to confer a specific alteration of AMPK function of particular importance in the myocardium...
  41. ncbi request reprint A revised method of troponin exchange in permeabilised cardiac trabeculae using vanadate: functional consequences of a HCM-causing mutation in troponin I
    Laura C Preston
    Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
    J Muscle Res Cell Motil 27:585-90. 2006
    ....
  42. pmc Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod
    Emily Flashman
    Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre of Human Genetics, Oxford OX3 7BN, UK
    Biochem J 401:97-102. 2007
    ..No effect of these mutations on C10 binding was however detected. We interpret our results with respect to the localization of the proposed trimeric collar on the thick filament...
  43. ncbi request reprint Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy
    Paul Robinson
    Department of Cardiovascular Medicine, Wellcome Trust Center for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    J Biol Chem 277:40710-6. 2002
    ..The functional consequences of this DCM mutation are qualitatively different from the R92Q or any other studied HCM troponin T mutation, suggesting that DCM and HCM may be triggered by distinct primary stimuli...
  44. ncbi request reprint Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy
    Houman Ashrafian
    Department of Cardiovascular Medicine, University of Oxford, Oxford, United Kingdom
    Circ Res 109:86-96. 2011
    ....
  45. pmc A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy
    Houman Ashrafian
    Department of Cardiovascular Medicine and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Genet 6:e1001000. 2010
    ..This disease model attests to the importance of mitochondrial remodelling in the heart; similar defects might underlie human heart muscle disease...
  46. ncbi request reprint Supranormal myocardial creatine and phosphocreatine concentrations lead to cardiac hypertrophy and heart failure: insights from creatine transporter-overexpressing transgenic mice
    Julie Wallis
    Department of Cardiovascular Medicine, University of Oxford, Oxford, England
    Circulation 112:3131-9. 2005
    ..Previously, it has not been possible to increase myocardial creatine and phosphocreatine concentrations to supranormal levels because they are subject to tight regulation by the sarcolemmal creatine transporter (CrT)...
  47. ncbi request reprint Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype
    Houman Ashrafian
    Department of Cardiovascular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    J Am Coll Cardiol 49:1251-64. 2007
    ..We review the successes and pitfalls of genetic and genomic approaches to cardiomyopathy and their impact on current and future clinical care...
  48. ncbi request reprint Mechanisms of creatine depletion in chronically failing rat heart
    Michiel Ten Hove
    Department of Cardiovascular Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN Oxford, UK
    J Mol Cell Cardiol 38:309-13. 2005
    ..The creatine transporter may be a potential therapeutic target to prevent energetic imbalance in heart failure...
  49. ncbi request reprint Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging
    Steffen E Petersen
    University of Oxford Centre for Clinical Magnetic Resonance Research, Oxford, United Kingdom
    J Am Coll Cardiol 46:101-5. 2005
    ..We hypothesized that pathological trabeculation could be distinguished by determining the ratio of non-compacted to compacted myocardium (NC/C ratio)...
  50. ncbi request reprint Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies
    Hugh Watkins
    Circulation 107:1344-6. 2003
  51. ncbi request reprint Characterization of the role of gamma2 R531G mutation in AMP-activated protein kinase in cardiac hypertrophy and Wolff-Parkinson-White syndrome
    Joanna K Davies
    Cellular Stress Group, Medical Research Council Clinical Sciences Centre, Hammersmith Campus, Imperial College London, London W12 ONN, UK
    Am J Physiol Heart Circ Physiol 290:H1942-51. 2006
    ..The subsequent decrease in AMPK activity provides a mechanism that may explain the development of cardiac hypertrophy in this model...
  52. ncbi request reprint Prognostic value of plasma interleukin-6 concentrations and the -174 G > C and -572 G > C promoter polymorphisms of the interleukin-6 gene in patients with acute myocardial infarction treated with thrombolysis
    Marie Bennermo
    Department of Medicine, Danderyd University Hospital, SE 182 88, Stockholm, Sweden
    Atherosclerosis 174:157-63. 2004
    ..In conclusion, the early IL-6 response during myocardial infarction is associated with prognosis in patients with Q-wave myocardial infarction, whereas no associations were found between IL-6 genotype and phenotype...
  53. ncbi request reprint Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy
    Edward Blair
    Circulation 108:e24-5; author reply e24-5. 2003
  54. ncbi request reprint The prognostic impact of septal myectomy in obstructive hypertrophic cardiomyopathy
    Hugh Watkins
    J Am Coll Cardiol 46:477-9. 2005
  55. ncbi request reprint Modernising medical careers, medical training application service, and the postgraduate medical education and training board: time for the emperors to don their clothes
    Morris Brown
    University of Cambridge, Cambridge CB2 2QQ, UK
    Lancet 369:967-8. 2007
  56. ncbi request reprint A novel common single nucleotide polymorphism in the promoter region of the C-reactive protein gene associated with the plasma concentration of C-reactive protein
    Alexander Kovacs
    Department of Cardiology, Karolinska Hospital, S 17176 Stockholm, Sweden
    Atherosclerosis 178:193-8. 2005
    ..The prognostic role and therapeutic implications in CHD and the functionality of this polymorphism remain to be determined...
  57. ncbi request reprint Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations
    Johanna Moolman-Smook
    US MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, Tygerberg, South Africa
    Circ Res 91:704-11. 2002
    ..We suggest that the HCM mutations act by altering the cMyBPC collar, indicating its importance in thick filament structure and regulation...
  58. ncbi request reprint Medical training in the UK: sleepwalking to disaster
    Morris Brown
    University of Cambridge, Cambridge CB2 2QQ, UK
    Lancet 369:1673-5. 2007
  59. ncbi request reprint The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: a possible explanation for heterogeneity in genetic association studies of AGT and hypertension
    Michelle Baker
    The Institute of Human Genetics, Newcastle University, UK
    Int J Epidemiol 36:1356-62. 2007
    ..We hypothesized that a primary effect of AGT variants on arterial stiffness (and thus pulse pressure) might explain such heterogeneity, and tested for such an effect in a family study...
  60. ncbi request reprint Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy
    Jens Mogensen
    Department of Cardiological Sciences, St George s Hospital Medical School, London, United Kingdom
    J Am Coll Cardiol 44:2033-40. 2004
    ....
  61. ncbi request reprint Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype
    Mahmooda Mirza
    National Heart and Lung Institute, Imperial College London, London SW3 6LY, United Kingdom
    J Biol Chem 280:28498-506. 2005
    ....
  62. ncbi request reprint Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion
    Bernard Keavney
    Institute of Human Genetics, University of Newcastle, UK
    J Clin Endocrinol Metab 90:1072-7. 2005
    ..Further fine-mapping studies across the CYP11B1 locus are required to localize the causative variant(s) for the biochemical phenotype; this may also identify susceptibility alleles for hypertension and left ventricular hypertrophy...
  63. ncbi request reprint The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments
    Mahmooda Mirza
    National Heart and Lung Institute, Imperial College London, London SW3 6LY, United Kingdom
    J Biol Chem 282:13487-97. 2007
    ..The disease-causing mechanism of the E40K mutation may be accounted for by destabilization of the On state of the thin filaments; however, the E54K mutation has a more complex effect on tropomyosin structure and function...
  64. doi request reprint Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes
    Julian Palomino-Doza
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Hypertension 52:980-5. 2008
    ..Other suggestive associations were found, but these were nonsignificant after correction for multiple testing. These genetic data suggest that drugs affecting P2X receptor signaling may have promise as clinical antihypertensive agents...
  65. ncbi request reprint Exercise-induced ventricular dysfunction in hypertrophic cardiomyopathy: stunning by any other name?
    Houman Ashrafian
    Heart 94:1251-3. 2008
  66. ncbi request reprint Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study
    Simona Barlera
    Department of Cardiovascular Research, Istituto di Ricerche Farmacologiche Mario Negri, Milano, Italy
    Eur J Hum Genet 15:221-7. 2007
    ..5). Our findings provide new and confirmatory information about genomic regions involved in the quantitative variation of Lp(a) and serve as a basis for further studies of candidate genes in these regions...
  67. ncbi request reprint Four paraoxonase gene polymorphisms in 11212 cases of coronary heart disease and 12786 controls: meta-analysis of 43 studies
    Jeremy G Wheeler
    Department of Public Health and Primary Care, University of Cambridge, Strangeways Site, Wort s Causeway, Cambridge CB1 8RN, UK
    Lancet 363:689-95. 2004
    ....