SCN5A

Summary

Gene Symbol: SCN5A
Description: sodium channel, voltage-gated, type V, alpha subunit
Alias: CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1, cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit, sodium channel protein cardiac muscle subunit alpha, sodium channel protein type 5 subunit alpha, voltage-gated sodium channel subunit alpha Nav1.5
Species: human

Top Publications

  1. pmc Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel
    M E Gellens
    Department of Medicine, University of Pennsylvania, Philadelphia 19104
    Proc Natl Acad Sci U S A 89:554-8. 1992
  2. doi SCN5A channelopathies--an update on mutations and mechanisms
    Thomas Zimmer
    Institute of Physiology II, Friedrich Schiller University Jena, Kollegiengasse 9, 07743 Jena, Germany
    Prog Biophys Mol Biol 98:120-36. 2008
  3. pmc Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    D Woodrow Benson
    Department of Pediatrics, Cincinnati Children s Hospital, Ohio, USA
    J Clin Invest 112:1019-28. 2003
  4. doi SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome
    Vincent Probst
    INSERM, UMR915, Nantes, France
    Circ Cardiovasc Genet 2:552-7. 2009
  5. doi Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations
    Carol Ann Remme
    Department of Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Trends Cardiovasc Med 18:78-87. 2008
  6. ncbi A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill
    W Antoinette Groenewegen
    Department of Medical Physiology, University Medical Center, Utrecht, The Netherlands
    Circ Res 92:14-22. 2003
  7. ncbi A sodium-channel mutation causes isolated cardiac conduction disease
    H L Tan
    The Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, The Netherlands
    Nature 409:1043-7. 2001
  8. ncbi SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    William P McNair
    University of Colorado Cardiovascular Institute, Denver, Colo, USA
    Circulation 110:2163-7. 2004
  9. doi Several common variants modulate heart rate, PR interval and QRS duration
    Hilma Holm
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 42:117-22. 2010
  10. pmc Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation
    Hiroshi Watanabe
    Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232 0575, USA
    Circ Arrhythm Electrophysiol 2:268-75. 2009

Detail Information

Publications214 found, 100 shown here

  1. pmc Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel
    M E Gellens
    Department of Medicine, University of Pennsylvania, Philadelphia 19104
    Proc Natl Acad Sci U S A 89:554-8. 1992
    ..The cDNA, designated hH1, encodes a 2016-amino acid protein that is homologous to other members of the sodium channel multigene family and ..
  2. doi SCN5A channelopathies--an update on mutations and mechanisms
    Thomas Zimmer
    Institute of Physiology II, Friedrich Schiller University Jena, Kollegiengasse 9, 07743 Jena, Germany
    Prog Biophys Mol Biol 98:120-36. 2008
    ..Na(v)1.5, encoded by the SCN5A gene, is the predominant isoform in the heart...
  3. pmc Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    D Woodrow Benson
    Department of Pediatrics, Cincinnati Children s Hospital, Ohio, USA
    J Clin Invest 112:1019-28. 2003
    ..with disorders of cardiac rhythm and conduction, we screened the alpha subunit of the cardiac sodium channel (SCN5A) as a candidate gene in ten pediatric patients from seven families who were diagnosed with congenital SSS during ..
  4. doi SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome
    Vincent Probst
    INSERM, UMR915, Nantes, France
    Circ Cardiovasc Genet 2:552-7. 2009
    Mutations in SCN5A are identified in approximately 20% to 30% of probands affected by Brugada syndrome (BrS). However, in familial studies, the relationship between SCN5A mutations and BrS remains poorly understood...
  5. doi Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations
    Carol Ann Remme
    Department of Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Trends Cardiovasc Med 18:78-87. 2008
    Cardiac sodium channel dysfunction caused by mutations in the SCN5A gene is associated with a number of relatively uncommon arrhythmia syndromes, including long-QT syndrome type 3 (LQT3), Brugada syndrome, conduction disease, sinus node ..
  6. ncbi A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill
    W Antoinette Groenewegen
    Department of Medical Physiology, University Medical Center, Utrecht, The Netherlands
    Circ Res 92:14-22. 2003
    ..Candidate gene screening revealed a novel mutation in the cardiac sodium channel gene SCN5A (D1275N) in all three affected living relatives and in five unaffected relatives, and the deceased relative was an ..
  7. ncbi A sodium-channel mutation causes isolated cardiac conduction disease
    H L Tan
    The Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, The Netherlands
    Nature 409:1043-7. 2001
    ..Inherited mutations in SCN5A, the gene encoding the human cardiac sodium (Na+) channel, have been associated with rapid heart rhythms that ..
  8. ncbi SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    William P McNair
    University of Colorado Cardiovascular Institute, Denver, Colo, USA
    Circulation 110:2163-7. 2004
    ..Previous linkage analysis mapped the disease phenotype to a 30-cM region on chromosome 3p22-p25 (CMD1E)...
  9. doi Several common variants modulate heart rate, PR interval and QRS duration
    Hilma Holm
    deCODE Genetics, Reykjavik, Iceland
    Nat Genet 42:117-22. 2010
    ..00032, respectively), between TBX5 and advanced atrioventricular block (P = 0.0067), and between SCN10A and pacemaker implantation (P = 0.0029). We also replicated previously described associations with the QT interval...
  10. pmc Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation
    Hiroshi Watanabe
    Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232 0575, USA
    Circ Arrhythm Electrophysiol 2:268-75. 2009
    We and others have reported mutations in the cardiac predominant sodium channel gene SCN5A in patients with atrial fibrillation (AF)...
  11. ncbi Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients
    Aimee D C Paulussen
    Department of Pharmacogenomics, Johnson and Johnson Pharmaceutical Research and Development, Turnhoutseweg 30, Beerse, Belgium
    J Mol Med (Berl) 82:182-8. 2004
    ..Five cLQTS genes ( KCNH2, KCNQ1, SCN5A, KCNE1, KCNE2) were thoroughly screened for genetic variations in 32 drug-induced aLQTS patients with confirmed ..
  12. pmc Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1.5
    Benjamin Chagot
    Department of Biochemistry, Vanderbilt University, Nashville, TN 37232, USA
    J Mol Biol 406:106-19. 2011
    ..The structure also provides insight into the biochemical basis for disease-associated mutations that map to the IQ motif in Na(V)1.5...
  13. pmc The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome
    Naomasa Makita
    Department of Cardiovascular Medicine, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Clin Invest 118:2219-29. 2008
    ..3 long QT syndrome (LQT3) with Brugada syndrome (BrS) is observed in some carriers of mutations in the Na channel SCN5A. While this overlap is important for patient management, the clinical features, prevalence, and mechanisms ..
  14. ncbi Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    I Splawski
    Department of Human Genetics, Howard Hughes Medical Institute, Division of Cardiology, Salt Lake City, Utah, USA
    Circulation 102:1178-85. 2000
    ..Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2...
  15. ncbi Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin
    Bruno Gavillet
    Department of Pharmacology and Toxicology, University of Lausanne, Switzerland
    Circ Res 99:407-14. 2006
    ..5. In the absence of dystrophin, decreased sodium current may explain the alterations in cardiac conduction observed in patients with dystrophinopathies...
  16. ncbi SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
    Steven Poelzing
    Heart and Vascular Research Center, MetroHealth Campus, Case Western Reserve University, 2500 MetroHealth Dr, Rammelkamp 658, Cleveland, OH 44109 1998, USA
    Circulation 114:368-76. 2006
    ..Previously, the R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome...
  17. ncbi A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences
    John R Bankston
    Department of Pharmacology, College of Physicians and Surgeons of Columbia University, New York, New York 10032, USA
    Channels (Austin) 1:273-80. 2007
    Inherited mutations of SCN5A, the gene that encodes Na(V)1.5, the alpha subunit of the principle voltage-gated Na(+) channel in the heart, cause congenital Long QT Syndrome variant 3 (LQT-3) by perturbation of channel inactivation...
  18. ncbi Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes
    Ping Yang
    Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tenn 37232, USA
    Circulation 105:1943-8. 2002
    ..We have previously identified functionally important DNA variants in genes encoding K+ channel ancillary subunits in 11% of an aLQTS cohort...
  19. pmc Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias
    Barry London
    Cardiovascular Institute, University of Pittsburgh Medical Center, Scaife S 572, 200 Lothrop St, Pittsburgh, PA 15213 2582, USA
    Circulation 116:2260-8. 2007
    ..Mutations in the cardiac Na+ channel SCN5A on chromosome 3p21 cause approximately 20% of the cases of Brugada syndrome; most mutations decrease inward Na+ ..
  20. pmc Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5
    Benjamin Chagot
    Department of Anesthesiology, Center for Structural Biology, Vanderbilt University, Nashville, Tennessee 37232 8725, USA
    J Biol Chem 284:6436-45. 2009
    ..These results suggest a molecular basis for the coupling of the intrinsic (EF-hand domain) and extrinsic (calmodulin) components of the calcium-sensing apparatus of NaV1.5...
  21. pmc Voltage-gated sodium channel modulation by sigma-receptors in cardiac myocytes and heterologous systems
    Molly Johannessen
    Dept of Physiology, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA
    Am J Physiol Cell Physiol 296:C1049-57. 2009
    ..The modulation of Na(v)1.5 channels by sigma-receptors in the heart suggests an important pathway by which drugs can alter cardiac excitability and rhythmicity...
  22. doi Na(V)1.5 enhances breast cancer cell invasiveness by increasing NHE1-dependent H(+) efflux in caveolae
    L Brisson
    INSERM U921, Nutrition, Croissance et Cancer, Universite Francois Rabelais, Faculte de Medecine, Tours, France
    Oncogene 30:2070-6. 2011
    ..Our study suggests that Na(V)1.5 and NHE1 are functionally coupled and enhance the invasiveness of cancer cells by increasing H(+) efflux...
  23. doi Tubulin polymerization modifies cardiac sodium channel expression and gating
    Simona Casini
    Department of Clinical and Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Cardiovasc Res 85:691-700. 2010
    ..5) function. Therefore, we investigated whether enhanced tubulin polymerization by TXL affects Na(v)1.5 function and expression and whether these effects are beta1-subunit-mediated...
  24. pmc A double tyrosine motif in the cardiac sodium channel domain III-IV linker couples calcium-dependent calmodulin binding to inactivation gating
    Maen F Sarhan
    Department of Anesthesiology, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
    J Biol Chem 284:33265-74. 2009
    ..The results demonstrate that calcium-dependent calmodulin binding to the sodium channel inactivation gate double tyrosine motif is required for calcium regulation of the cardiac sodium channel...
  25. pmc Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome
    Junhong Gui
    Cardiovascular and Genetic Medicine Research Groups, School of Biomedicine, University of Manchester, Manchester, United Kingdom
    PLoS ONE 5:e10985. 2010
    To identify molecular mechanisms underlying SCN5A-related sick sinus syndrome (SSS), a rare type of SSS, in parallel experiments we elucidated the electrophysiological properties and the cell surface localization of thirteen human Na(v)1...
  26. pmc Genome-wide association study of PR interval
    Arne Pfeufer
    Institute of Human Genetics, Klinikum rechts der Isar der Technischen Universitat Munchen, Munich, Germany
    Nat Genet 42:153-9. 2010
    ..At the 3p22.2 locus, we observed two independent associations in voltage-gated sodium channel genes, SCN10A and SCN5A. Six of the loci were near cardiac developmental genes, including CAV1-CAV2, NKX2-5 (CSX1), SOX5, WNT11, MEIS1, ..
  27. doi Alternative splicing of Nav1.5: an electrophysiological comparison of 'neonatal' and 'adult' isoforms and critical involvement of a lysine residue
    Rustem Onkal
    Division of Cell and Molecular Biology, Neuroscience Solutions to Cancer Research Group, Sir Alexander Fleming Building, South Kensington Campus, Imperial College London, London, UK
    J Cell Physiol 216:716-26. 2008
    ..5 would (1) modify the channel kinetics and (2) prolong the resultant current, allowing greater intracellular Na(+) influx. Developmental and pathophysiological consequences of such differences are discussed...
  28. ncbi Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block
    Dao W Wang
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tenn, and Department of Pediatrics, Medical University of South Carolina, Charleston, USA
    Circulation 105:341-6. 2002
    ..have been associated with heterozygous mutations in the cardiac voltage-gated sodium channel alpha-subunit gene (SCN5A)...
  29. ncbi Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel
    J Wei
    Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA
    Circulation 99:3165-71. 1999
    ..One form, LQT3, is caused by mutations in the cardiac voltage-dependent sodium channel gene, SCN5A. Only 5 SCN5A mutations have been associated with LQTS, and more work is needed to improve correlations between ..
  30. ncbi Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    Q Chen
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 392:293-6. 1998
    ..malfunction of ion channels could cause the disorder by studying mutations in the cardiac sodium channel gene SCN5A. We have now identified a missense mutation, a splice-donor mutation, and a frameshift mutation in the coding ..
  31. ncbi Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease
    Eric Schulze-Bahr
    Department of Cardiology and Angiology, Hospital of the University of Münster, Germany
    Hum Mutat 21:651-2. 2003
    ..Mutations in the cardiac sodium channel gene SCN5A are only known to cause BS...
  32. pmc Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model
    Anne Laure Leoni
    INSERM, UMR915, l institut du thorax, Nantes, France
    PLoS ONE 5:e9298. 2010
    Loss-of-function mutations in SCN5A, the gene encoding Na(v)1.5 Na+ channel, are associated with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects...
  33. ncbi Molecular mechanism for an inherited cardiac arrhythmia
    P B Bennett
    Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Nature 376:683-5. 1995
    ..has been linked to a mutation in the gene encoding the human heart voltage-gated sodium-channel alpha-subunit (SCN5A on chromosome 3p21)...
  34. ncbi Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel
    Ralf Surber
    Department of Internal Medicine I, Friedrich Schiller University Jena, Jena, Germany
    Cardiovasc Res 77:740-8. 2008
    ..mechanism underlying the concomitant occurrence of cardiac conduction disease and long QT syndrome (LQT3), two SCN5A channelopathies that are explained by loss-of-function and gain-of-function, respectively, in the cardiac Na+ ..
  35. doi Genetic modulation of brugada syndrome by a common polymorphism
    Eric Lizotte
    Montreal Heart Institute and University of Montreal, Montreal, Canada
    J Cardiovasc Electrophysiol 20:1137-41. 2009
    Brugada syndrome predisposes some subjects to ventricular tachyarrhythmias and sudden cardiac death. Mutations in SCN5A gene have been associated with approximately 25% of Brugada syndrome patients...
  36. pmc Common variants at ten loci influence QT interval duration in the QTGEN Study
    Christopher Newton-Cheh
    Center for Human Genetic Research, Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA
    Nat Genet 41:399-406. 2009
    ..We observed associations at P < 5 x 10(-8) with variants in NOS1AP, KCNQ1, KCNE1, KCNH2 and SCN5A, known to be involved in myocardial repolarization and mendelian long-QT syndromes...
  37. ncbi Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A
    Shao Wu Ou
    Department of Physiology, Graduate School of Medical and Dental Sciences, Kagoshima University, 8 35 1 Sakuragaoka, Kagoshima 890 8544, Japan
    Eur J Neurosci 22:793-801. 2005
    ..Sequence analysis has indicated that hNbR1 is highly homologous with human cardiac Nav1.5/SCN5A with > 99% amino acid identity...
  38. ncbi Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome
    Ghayath Baroudi
    Department of Medicine, Laval University, Québec Heart Institute and Research Centre, Laval Hospital, Sainte Foy
    Can J Cardiol 20:425-30. 2004
    ..Mutations in the SCN5A gene encoding the cardiac voltage-gated Na+ channel (hNav1.5) are associated with Brugada syndrome.
  39. ncbi Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine
    Bi Hua Tan
    Dept of Medicine, Univ of Wisconsin, 600 Highland Ave H6 349, Madison, WI 53792, USA
    Am J Physiol Heart Circ Physiol 291:H1822-8. 2006
    Mutations in the cardiac Na(+) channel gene SCN5A cause loss of function and underlie arrhythmia syndromes. SCN5A in humans has two splice variants, one lacking a glutamine at position 1077 (Q1077del) and one containing Q1077...
  40. ncbi Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias
    P J Schwartz
    Department of Cardiology, Policlinico S Matteo IRCCS and University of Pavia, Pavia, Italy
    Circulation 103:89-95. 2001
    ..Preliminary observations suggested that the conditions ("triggers") associated with cardiac events may in large part be gene specific...
  41. ncbi Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A
    Hideki Itoh
    Department of Information Physiology, National Institute for Physiological Sciences, Myodaiji, Okazaki, Japan
    J Cardiovasc Electrophysiol 16:378-83. 2005
    Brugada syndrome is an inherited cardiac disorder caused by mutations in the SCN5A gene encoding the cardiac sodium channel alpha-subunit, and potentially leads to ventricular fibrillation and sudden death...
  42. doi A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization
    Stefano Marangoni
    Department of Biotechnology and Biosciences, University of Milano Bicocca, Piazza della Scienza 2, 20126 Milano, Italy
    Cardiovasc Res 91:606-16. 2011
    The Na(+) channel mutation (p.S216L), previously associated with type 3 long-QT syndrome (LQT3) phenotype, and a common polymorphism (p.H558R) were detected in a patient with an intermittent Brugada syndrome (BS) ECG pattern...
  43. ncbi A single Na(+) channel mutation causing both long-QT and Brugada syndromes
    C Bezzina
    Departments of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    Circ Res 85:1206-13. 1999
    Mutations in SCN5A, the gene encoding the cardiac Na(+) channel, have been identified in 2 distinct diseases associated with sudden death: one form of the long-QT syndrome (LQT(3)) and the Brugada syndrome...
  44. pmc Extracellular proton modulation of the cardiac voltage-gated sodium channel, Nav1.5
    D K Jones
    Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, British Columbia, Canada
    Biophys J 101:2147-56. 2011
    ..Portions of these data were previously reported in abstract form...
  45. pmc Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae
    J Gustav Smith
    Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    Heart Rhythm 6:634-41. 2009
    ..Cardiac conduction, as assessed by electrocardiographic PR interval and QRS duration, is an important electrophysiological trait and a determinant of arrhythmia risk...
  46. ncbi Voltage-gated sodium channel expression and potentiation of human breast cancer metastasis
    Scott P Fraser
    Neuroscience Solutions to Cancer Research Group, Department of Biological Sciences, Imperial College London, UK
    Clin Cancer Res 11:5381-9. 2005
    ..The purpose of this study was to investigate voltage-gated Na(+) channel (VGSC) expression and its possible role in human breast cancer...
  47. pmc Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes
    Peter J Mohler
    Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
    Proc Natl Acad Sci U S A 101:17533-8. 2004
    ..Together with previous work in neurons, these results in cardiomyocytes suggest that ankyrin-G participates in a common pathway for localization of voltage-gated Na(v) channels at sites of function in multiple excitable cell types...
  48. pmc Calcium-dependent regulation of the voltage-gated sodium channel hH1: intrinsic and extrinsic sensors use a common molecular switch
    Vikas N Shah
    Department of Anesthesiology, Vanderbilt University, Nashville, TN 37232, USA
    Proc Natl Acad Sci U S A 103:3592-7. 2006
    The function of the human cardiac voltage-gated sodium channel Na(V)1.5 (hH1) is regulated in part by binding of calcium to an EF hand in the C-terminal cytoplasmic domain...
  49. ncbi Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms
    Naomasa Makita
    Department of Cardiovascular Medicine, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Heart Rhythm 2:1128-34. 2005
    Congenital atrial standstill has been linked to SCN5A. Incomplete penetrance observed in atrial standstill has been attributed in part to the digenic inheritance of polymorphisms in the atrial-specific gap junction connexin 40 (Cx40) in ..
  50. pmc Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel
    Y Zhang
    Cardiovascular Ion Channel Disease Laboratory, Department of Paediatrics, First Affiliated Hospital, Medical College of Xi an Jiaotong University, Xi an, China
    Acta Physiol (Oxf) 194:311-23. 2008
    ..We compared the clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in domain II (S5-S6) of human, hNa(v)1.5, cardiac Na(+) channels...
  51. pmc Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    Timothy M Olson
    Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    JAMA 293:447-54. 2005
    ..Recently, genetic defects in calcium and potassium regulation have been discovered in patients with DCM, implicating an alternative disease mechanism. The full spectrum of genetic defects in DCM, however, has not been established...
  52. ncbi Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits
    R H An
    Department of Pharmacology, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA
    Circ Res 83:141-6. 1998
    ..Previously studied LQT-3 mutations of SCN5A (or hH1), the gene that encodes the human Na+ channel alpha-subunit, have been shown to encode voltage-gated Na+ ..
  53. ncbi A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
    Jonathan C Makielski
    Department of Medicine, University of Wisconsin, 600 Highland Ave H6 349, Madison, Wis 53792, USA
    Circ Res 93:821-8. 2003
    Amino acid sequence variations in SCN5A are known to affect function of wild-type channels and also those with coexisting mutations; therefore, it is important to know the exact sequence and function of channels most commonly present in ..
  54. doi Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome
    Junhong Gui
    Cardiovascular Research Group, School of Clinical and Laboratory Sciences, University of Manchester, Manchester, UK
    J Cardiovasc Electrophysiol 21:564-73. 2010
    Mutations in SCN5A, the gene encoding alpha subunit of cardiac type sodium channel, Na(v)1.5, lead to familial sick sinus syndrome (SSS)...
  55. doi Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
    Paola G Meregalli
    Department of Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Heart Rhythm 6:341-8. 2009
    Patients carrying loss-of-function SCN5A mutations linked to Brugada syndrome (BrS) or progressive cardiac conduction disease (PCCD) are at risk of sudden cardiac death at a young age...
  56. doi Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome
    Séverine Petitprez
    Department of Pharmacology and Toxicology, University of Lausanne, 27, Bugnon, 1005 Lausanne, Vaud, Switzerland
    Cardiovasc Res 78:494-504. 2008
    ..BrS is caused, in part, by mutations in the SCN5A gene, which encodes the sodium channel alpha-subunit Na(v)1.5...
  57. pmc Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations
    Chia Hsiang Hsueh
    Institute of Pharmacology, School of Medicine, National Taiwan University, Taipei, Taiwan
    J Biomed Sci 16:23. 2009
    ..The molecular and cellular mechanisms that lead to Brugada syndrome are not yet completely understood. However, SCN5A is the most well known responsible gene that causes Brugada syndrome...
  58. ncbi Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617
    Tiehua Chen
    CVRTI, Bldg 500, 95 South 2000 East, Univ of Utah, Salt Lake City, UT 84112, USA
    Am J Physiol Heart Circ Physiol 288:H2666-76. 2005
    ..in domain IV of the human heart Na(+) channel (hH1a) has been tentatively associated with long QT syndrome type 3 (LQT3)...
  59. ncbi Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks
    Allen Burke
    Department of Cardiovascular Pathology, Armed Forces Institute of Pathology, Washington, DC, USA
    Circulation 112:798-802. 2005
    The Y1102 polymorphism of the cardiac sodium channel (SCN5A) gene has been found in 13% of black Americans. It has been linked to lethal arrhythmias in black families with ventricular tachycardia...
  60. ncbi High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations
    Takeru Makiyama
    Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
    J Am Coll Cardiol 46:2100-6. 2005
    We carried out a complete screening of the SCN5A gene in 38 Japanese patients with Brugada syndrome to investigate the genotype-phenotype relationship.
  61. pmc Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome
    David W Van Norstrand
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Heart Rhythm 5:712-5. 2008
    The S1103Y-SCN5A polymorphism has been implicated as a proarrhythmic, sudden death predisposing risk factor in African Americans, including one postmortem investigation of African-American infants with sudden infant death syndrome (SIDS).
  62. ncbi Cardiac sodium channel dysfunction in sudden infant death syndrome
    Dao W Wang
    Departments of Pharmacology, Vanderbilt University, Nashville, Tenn, USA
    Circulation 115:368-76. 2007
    Mutations in genes responsible for the congenital long-QT syndrome, especially SCN5A, have been identified in some cases of sudden infant death syndrome...
  63. ncbi A novel mutation in the SCN5A gene is associated with Brugada syndrome
    Dong Jik Shin
    Cardiovascular Genome Center, Yonsei University Medical Center, Seoul, Republic of Korea
    Life Sci 80:716-24. 2007
    ..inherited cardiac disorder associated with a high risk of sudden cardiac death and is caused by mutations in the SCN5A gene encoding the cardiac sodium channel alpha-subunit (Na(v)1.5)...
  64. pmc Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome
    Jonathan M Cordeiro
    Department of Experimental Cardiology, Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA
    Circulation 114:2026-33. 2006
    Loss-of-function mutations in SCN5A have been associated with the Brugada syndrome. We report the first Brugada syndrome family with compound heterozygous mutations in SCN5A...
  65. ncbi Cardiac sodium channel Na(v)1.5 interacts with and is regulated by the protein tyrosine phosphatase PTPH1
    Thomas Jespersen
    Department of Pharmacology and Toxicology, University of Lausanne, Switzerland
    Biochem Biophys Res Commun 348:1455-62. 2006
    ..The results of this study suggest that tyrosine phosphorylation destabilizes the inactivated state of Na(v)1.5...
  66. pmc Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation
    Marketa Bebarova
    Dept of Cardiology, Cardiovascular Research Institute Maastricht, Academic Hospital Maastricht, 6202 AZ, Maastricht, The Netherlands
    Am J Physiol Heart Circ Physiol 295:H48-58. 2008
    ..with a Na(+) current (I(Na)) loss-of-function mutation from studies in a Dutch kindred with the COOH-terminal SCN5A variant p.Phe2004Leu...
  67. ncbi Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation
    Simona Casini
    Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Cardiovasc Res 76:418-29. 2007
    Mutations in SCN5A, the gene encoding the alpha-subunit of the cardiac sodium channel (Na(v)1.5), have been associated with various inherited arrhythmia syndromes, including Brugada syndrome (BrS)...
  68. doi Cardiac ion channel gene mutations in sudden infant death syndrome
    Tesshu Otagiri
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990 9585, Japan
    Pediatr Res 64:482-7. 2008
    ..genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M and SCN5A-G1084S...
  69. ncbi Modulation of Nav1.5 channel function by an alternatively spliced sequence in the DII/DIII linker region
    Juan A Camacho
    Institute of Physiology II, Friedrich Schiller University, 07740 Jena, Germany
    J Biol Chem 281:9498-506. 2006
    ..Moreover, the present study identified novel short sequence motifs within this amphiphilic region that specifically affect the voltage dependence of steady-state activation and inactivation and current amplitude of human Na(v)1.5...
  70. pmc A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y
    Leigh D Plant
    Department of Pediatrics and Institute for Molecular Pediatric Sciences, Pritzker School of Medicine, Biological Sciences Division, University of Chicago, Chicago, Illinois 60637, USA
    J Clin Invest 116:430-5. 2006
    ..While 2 cases have been associated with mutations in type Valpha, cardiac voltage-gated sodium channels (SCN5A), the "Back to Sleep" campaign has decreased SIDS prevalence, consistent with a role for environmental influences ..
  71. ncbi Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome
    Andrea Frustaci
    Heart and Great Vessels Department, Attilio Reale, La Sapienza University, Rome, Italy
    Circulation 112:3680-7. 2005
    ..The role of structural heart disease and sodium channel dysfunction in the induction of electrical instability in Brugada syndrome is still debated...
  72. ncbi Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction
    Connie R Bezzina
    Experimental and Molecular Cardiology Group, Department of Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Circulation 113:338-44. 2006
    ..Loss of function mutations in SCN5A, encoding the cardiac sodium channel, are one cause of the Brugada syndrome, associated with slow conduction and a ..
  73. ncbi Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent
    R Dumaine
    Departments of Molecular Biology and Experimental Cardiology, Masonic Medical Research Laboratory, Utica, NY 13501, USA
    Circ Res 85:803-9. 1999
    ..Our group recently linked the disease to mutations in SCN5A, the gene encoding for the alpha subunit of the cardiac sodium channel...
  74. ncbi Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients
    Jeroen P P Smits
    Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    J Am Coll Cardiol 40:350-6. 2002
    ..relationship exists in Brugada syndrome (BS) by trying to distinguish BS patients with (carriers) and those without (non-carriers) a mutation in the gene encoding the cardiac sodium channel (SCN5A) using clinical parameters.
  75. ncbi Natural history of Brugada syndrome: insights for risk stratification and management
    Silvia G Priori
    Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri and University of Pavia, Pavia, Italy
    Circulation 105:1342-7. 2002
    ..Furthermore, the value of programmed electrical stimulation (PES) for risk stratification is highly debated. The objective of this study was to search for novel parameters to identify patients at risk of sudden death...
  76. ncbi A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome
    J Akai
    Etiology and Pathogenesis Research Unit, Medical Research Institute, Tokyo Medical and Dental University, Japan
    FEBS Lett 479:29-34. 2000
    Mutations in the human cardiac Na+ channel alpha subunit gene (SCN5A) are responsible for Brugada syndrome, an idiopathic ventricular fibrillation (IVF) subgroup characterized by right bundle branch block and ST elevation on an ..
  77. ncbi Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene
    M Miura
    Department of Cardiology, Keio University Hospital, Tokyo, Japan
    Pediatr Cardiol 24:70-2. 2003
    ..We report an infant with LQTS and 2:1 AVB with a mutation of the SCN5A gene (LQT3). In some patients with LQTS and 2:1 AVB, the disorder may be due to mutation of the SCN5A gene (LQT3).
  78. ncbi Cardiac conduction defects associate with mutations in SCN5A
    J J Schott
    Laboratoire de Physiopathologie et de Pharmacologie Cellulaires et Moléculaires, INSERM CJF96 01, France
    Nat Genet 23:20-1. 1999
  79. ncbi Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
    Igor Splawski
    Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Science 297:1333-6. 2002
    ..We identified a variant of the cardiac sodium channel gene SCN5A that is associated with arrhythmia in African Americans (P = 0...
  80. ncbi Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family
    F Kyndt
    Laboratoire de Physiopathologie et de Pharmacologie Cellulaires et Moléculaires, INSERM U533, Paris, France
    Circulation 104:3081-6. 2001
    The SCN5A gene encoding the human cardiac sodium channel alpha subunit plays a key role in cardiac electrophysiology...
  81. ncbi A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation
    Dagmar I Keller
    INSERM U582, IFR No 14, Pitie Salpetriere Hospital, Paris, France
    J Mol Cell Cardiol 35:1513-21. 2003
    Inherited long QT syndrome (LQTS) is caused by mutations in six genes including SCN5A, encoding the alpha-subunit of the human cardiac voltage-dependent sodium channel hNa(v)1.5...
  82. ncbi Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes
    I Rivolta
    Department of Pharmacology, College of Physicians and Surgeons of Columbia University, New York, New York 10032, USA
    J Biol Chem 276:30623-30. 2001
    Defects of the SCN5A gene encoding the cardiac sodium channel alpha-subunit are associated with both the long QT-3 (LQT-3) subtype of long-QT syndrome and Brugada syndrome (BrS)...
  83. ncbi SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    Q Wang
    University of Utah Health Sciences Center, Salt Lake City 84112
    Cell 80:805-11. 1995
    ..5, LQT2 on 7q35-36, and LQT3 on 3p21-24. Here we report genetic linkage between LQT3 and polymorphisms within SCN5A, the cardiac sodium channel gene...
  84. ncbi A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families
    Jeroen P P Smits
    Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, The Netherlands
    J Mol Cell Cardiol 38:969-81. 2005
    Mutations in the gene encoding the human cardiac sodium channel (SCN5A) have been associated with three distinct cardiac arrhythmia disorders: the long QT syndrome, the Brugada syndrome and cardiac conduction disease...
  85. ncbi Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome
    Ghayath Baroudi
    Department of Medicine, Laval University and Quebec Heart Institute, Laval Hospital Research Center, Sainte Foy, Quebec, Canada
    Circ Res 90:E11-6. 2002
    Brugada syndrome is an inherited cardiac disorder caused by mutations in the cardiac sodium channel gene, SCN5A, that leads to ventricular fibrillation and sudden death...
  86. ncbi Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit
    N Makita
    Department of Cardiovascular Medicine, Hokkaido University School of Medicine, Sapporo, Japan
    Circulation 101:54-60. 2000
    ..cardiac Na(+) channel alpha-subunit (hH1) are responsible for chromosome 3-linked congenital long-QT syndrome (LQT3) and idiopathic ventricular fibrillation (IVF)...
  87. ncbi A molecular basis for the therapy of the long QT syndrome
    S G Priori
    Dipartimento di Cardiologia, Facolta di Medicina e Chirurgla, , Policlinico San Matteo IRCCS, Italy
    Arch Mal Coeur Vaiss 89:1185-7. 1996
    ..The genes for the LQTS linked to chromosomes 3 (LQT3)...
  88. ncbi [Present concepts of congenital long QT syndrome]
    A Leenhardt
    Service de cardiologie, , Paris
    Arch Mal Coeur Vaiss 93:17-21. 2000
    ..a subunits of the potassium channels (QVLQT1 for LQT1, HERG for LQT2), the a subunit of the sodium channel INa (SCN5A for LQT3), and two regulatory subunits of potassium channels (KCNE1 for LQT5 regulating the KvLQT1 channel and ..
  89. ncbi [Brugada syndrome]
    J Brugada
    Institut cardiovasculaire, , , Espagne
    Arch Mal Coeur Vaiss 92:847-50. 1999
    ..All three mutations affect the structure and the function of the sodium channel SCN5A. Two mutations result in total loss of function of the sodium channel...
  90. pmc Channel cytoplasmic loops alter voltage-dependent sodium channel activation in an isoform-specific manner
    E S Bennett
    Department of Physiology and Biophysics and Program in Neuroscience, College of Medicine, University of South Florida, Tampa, FL 33612, USA
    J Physiol 535:371-81. 2001
    ..functional role of cytoplasmic structures of two voltage-gated sodium channel isoforms, the human cardiac channel (hH1) and the adult human skeletal muscle channel (hSkM1) was investigated through functional comparison of chimeras. 2...
  91. pmc Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation
    Carmen R Valdivia
    Department of Medicine, Cardiovascular Section, and the Cardiac Molecular Arrhythmias Research Program, University of Wisconsin Madison, 600 Highland Avenue H6 349, Madison, WI 53792, USA
    Cardiovasc Res 86:392-400. 2010
    Loss-of-function mutations in the SCN5A-encoded sodium channel SCN5A or Nav1.5 have been identified in idiopathic ventricular fibrillation (IVF) in the absence of Brugada syndrome phenotype. Nav1...
  92. pmc The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart
    A I Fahmi
    Department of Biochemistry, University of Cambridge, Downing Site, Cambridge CB2 1QW, UK
    J Physiol 537:693-700. 2001
    1. Cardiac sodium channels are composed of a pore-forming alpha-subunit, SCN5a, and one or more auxiliary beta-subunits...
  93. ncbi Elective single embryo transfer following in vitro fertilization
    Jason K Min
    Ottawa ON
    J Obstet Gynaecol Can 32:363-77. 2010
    ..elective single embryo transfer (eSET) compared with double embryo transfer (DET) following in vitro fertilization (IVF), and to provide guidelines on the use of eSET in order to optimize live birth rates and minimize twin pregnancies.
  94. ncbi Normalization of ventricular repolarization with flecainide in long QT syndrome patients with SCN5A:DeltaKPQ mutation
    J R Windle
    University of Nebraska Medical Center, Omaha, Nebraska, USA
    Ann Noninvasive Electrocardiol 6:153-8. 2001
    ..The LQT3 form of this disease is caused by mutations of the SCN5A sodium-channel gene...
  95. ncbi Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome
    Wataru Shimizu
    Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center, Suita, Japan
    Heart Rhythm 1:276-83. 2004
    The aim of this study was to test the hypothesis that epinephrine test may have diagnostic value for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome (LQTS).
  96. ncbi Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients
    Yanfei Ruan
    Molecular Cardiology, Fondazione Salvatore Maugeri, Via Maugeri 10 10A, 27100 Pavia, Italy
    Circulation 116:1137-44. 2007
    ..therapy for patients with long-QT syndrome type 3 (LQT3) caused by mutations in the cardiac sodium channel gene (SCN5A)...
  97. ncbi Zona pellucida solubility and cortical granule complements in human oocytes following assisted reproductive techniques
    C Manna
    Genesis, , Rome, Italy
    Zygote 9:201-10. 2001
    ..ZP) of human oocytes and polyploid embryos obtained during various clinical procedures of assisted fertilisation (IVF, ICSI, cyropreservation) was evaluated...
  98. ncbi In vitro fertilisation and gamete intrafallopian transfer: an integrative analysis of research, 1987-1992
    D T Kenny
    Faculty of Health Sciences, University of Sydney, Lidcombe, NSW, Australia
    Br J Obstet Gynaecol 102:317-25. 1995
    ..To provide a statistically integrated analysis and review of all published outcome studies of in vitro fertilisation (IVF) and gamete intrafallopian transfer (GIFT) occurring in English language journals between 1987 and 1992; to provide ..
  99. ncbi Comparable clinical outcomes of tubal embryo transfer for oligoastheno-teratozoospermia treated with intracytoplasmic sperm injection and for female infertility treated with in vitro fertilization
    S Y Chang
    Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Kaohsiung
    Chang Gung Med J 23:253-9. 2000
    ..Reports regarding the outcomes of in vitro fertilization (IVF) vs. intracytoplasmic sperm injection (ICSI) are controversial...
  100. ncbi IVF and related technology. The present and the future
    A O Trounson
    Centre for Early Human Development, Monash University, Clayton, Vic
    Med J Aust 158:853-7. 1993
    To describe the current status of in-vitro fertilisation (IVF) and related technologies, including: the indications for the procedures and the problems associated with the use of stimulated cycles; the use of frozen embryos and donor ..
  101. ncbi [Arterial hypertension, myocardial hypertrophy and disorders of cardiac rhythm induced by ligation of the left coronary artery in the rat]
    P Belichard
    Laboratoire Fournier S A, Fontaine Les Dijon
    Arch Mal Coeur Vaiss 80:883-7. 1987
    ..LVH index was 2.81 +/- 0.04 in SHR vs 196 +/- 0.03 in WKY and 1.65 +/- 0.05 in W (p less than 0.01). Incidence (IVF) and duration (DVF) of ventricular fibrillation were significantly more elevated in SHR than in NT rats...

Research Grants120 found, 100 shown here

  1. CONVENTIONAL INFERTILITY THERAPY VS FAST TRACK TO IVF
    Richard Reindollar; Fiscal Year: 2004
    This study is designed to determine the cost-effectiveness of a fast track to in vitro fertilization (IVF) infertility therapy by conducting a randomized prospective clinical trial to compare its success rates and costs to that of ..
  2. IMPROVING COMMUNICATION WITH IVF PATIENTS ABOUT RISKS SUCH AS MULTIPLE BIRTHS
    LINDA FRAZIER; Fiscal Year: 2007
    ..risks from treating infertility with assisted reproductive technologies (ART) such as in vitro fertilization (IVF)...
  3. Metformin Use During in Vitro Fertilization in Polycystic Ovary Syndrome
    Peter Casson; Fiscal Year: 2007
    ..It is often treated by In Vitro Fertilization (IVF), but at IVF, these patients frequently have poor success, because of the effects of hyperinsulinemia on oocyte ..
  4. Improved Implantation and Pregnancy Using Microfluidic Embryo Culture
    Xiaoyue Zhu; Fiscal Year: 2007
    Significant progress has been made in Vitro Fertilization (IVF) since the fist test tube baby was born in 1978. IVF pregnancy success rates in the U.S...
  5. Supporting Human ART Through Basic Science
    Barry Bavister; Fiscal Year: 2004
    ..clinical embryologists and medical directors) in the latest basic and applied science relevant to their IVF programs, and (2) foster communication, exchange of information and awareness of how animal embryo research can ..
  6. Maternal Pesticide Exposure and Pregnancy Outcomes
    Russ Hauser; Fiscal Year: 2007
    ..we will explore the developmental toxicity of chlorinated compounds in women undergoing in vitro fertilization (IVF), which can be used as a model to assess early development, normally unobservable...
  7. Maternal Pesticide Exposure and Pregnancy Outcomes
    Russ Hauser; Fiscal Year: 2009
    ..we will explore the developmental toxicity of chlorinated compounds in women undergoing in vitro fertilization (IVF), which can be used as a model to assess early development, normally unobservable...
  8. MHC-BOUND, SIV-DERIVED, CTL AND HTL EPITOPES
    David Watkins; Fiscal Year: 2004
    ..The use of assisted reproductive technologies such as in vitro fertilization (IVF) and micromanipulation in conjunction with selected embryo transfer will result in the production of completely MHC-..
  9. REPRODUCTIVE MEDICINE AND THE LAW WORKSHOPS
    Robert Rebar; Fiscal Year: 2007
    ..substantially as refinements in assisted reproductive technologies (ART), including in vitro fertilization (IVF), have extended family-building potential to patients who previously had little hope of conception...
  10. HBEGF - A Role In Human Implantation
    Richard Leach; Fiscal Year: 2005
    ..cycle and implantation, nor is it known how the hormonal manipulations used during in vitro fertilization (IVF) alter their expression patterns...
  11. HEREDITARY DEFECTS IN HUMAN SODIUM CHANNELS
    ALFRED GEORGE; Fiscal Year: 2007
    ..We have recently shifted our focus from studies of the two striated muscle sodium channel genes (SCN4A, SCN5A) to investigations of brain sodium channel genes and their role in inherited epilepsies...
  12. Trophoblast MHC-I: Trigger for Immune-Mediated Rejection of Cloned Bovine Fetuses
    Kenneth L White; Fiscal Year: 2010
    ..in human and bovine pregnancies established by assisted reproductive technologies such as in vitro fertilization (IVF)...
  13. Trophoblast MHC-I: Trigger for Immune-Mediated Rejection of Cloned Bovine Fetuses
    Christopher Davies; Fiscal Year: 2009
    ..in human and bovine pregnancies established by assisted reproductive technologies such as in vitro fertilization (IVF)...
  14. HUMAN SPERM ZONA ACCEPTOR--ENVIRONMENTAL EFFECTS
    Susan Benoff; Fiscal Year: 2000
    ..to follow up findings from our current prospective study of males of couples undergoing in vitro fertilization (IVF) that 42/95 subjects had elevated blood and semen Pb2+ (greater than 40 microgram/dcl), and that rates of female ..
  15. Trophoblast MHC-I: Trigger for Immune-Mediated Rejection of Cloned Bovine Fetuses
    Christopher Davies; Fiscal Year: 2009
    ..in human and bovine pregnancies established by assisted reproductive technologies such as in vitro fertilization (IVF)...
  16. Paracrine dysregulation of oocyte competence in PCOS
    DANIEL DUMESIC; Fiscal Year: 2006
    ..During gonadotropin stimulation for in vitro fertilization (IVF), PCOS women experience decreased fecundity and increased pregnancy loss...
  17. THERAPUTIC TRIAL IN PATIENTS WITH LQTS 3 GENE MUTATION
    Arthur Moss; Fiscal Year: 2002
    ..Recently, four genetic forms of LQTS have been identified including LQT3, a sodium-channel gene mutation (SCN5A, deltaKPQ deletion) with impairment of sodium-channel inactivation...
  18. EFFICACY OF MOUSE SPERM CRYOPRESERVATION
    LARRY MOBRAATEN; Fiscal Year: 2001
    ..2) Enhance in vitro fertilization (IVF) for gametes from different inbred strains...
  19. Transgenesis-Ready Mice with Tn5 Transposase
    JOANNE EBESU; Fiscal Year: 2007
    ..designed to intercept the sperm chromatin during its decondensation stage soon after in-vitro fertilization (IVF)...
  20. Families created by assisted reproduction: parenting and child development
    SUSAN ESTHER GOLOMBOK; Fiscal Year: 2010
    Since the birth of the first baby through in vitro fertilization (IVF) in 1978, more than 1 million babies have been born as a result of assisted reproduction...
  21. Sodium Channels and Cardiac Arrhythmias
    Isabelle Deschenes; Fiscal Year: 2010
    ..2. Investigate the mechanisms by which SCN5A polymorphisms can modulate the function of mutated sodium channels. 3...
  22. Neonatal Long QT Syndrome and Sudden Infant Death
    ALFRED GEORGE; Fiscal Year: 2007
    ..The complete coding regions and splice site sequences of KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and coding exons of other candidate genes will be surveyed for variants in four populations, two ..
  23. Neonatal Long QT Syndrome and Sudden Infant Death
    Alfred L George; Fiscal Year: 2010
    ..The complete coding regions and splice site sequences of KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and coding exons of other candidate genes will be surveyed for variants in four populations, two ..
  24. Neonatal Long QT Syndrome and Sudden Infant Death
    ALFRED GEORGE; Fiscal Year: 2009
    ..The complete coding regions and splice site sequences of KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and coding exons of other candidate genes will be surveyed for variants in four populations, two ..
  25. Molecular Mechanisms of Cardiac Arrhythmias
    Qing Wang; Fiscal Year: 2005
    ..In the proposed studies we plan to develop and characterize LQT- and IVF-animal models in which SCN5A (the cardiac sodium channel gene) mutations are engineered into the mouse genome to further explore the etiology ..
  26. Neural Circulatory Control in the Long QT Syndrome
    Virend Somers; Fiscal Year: 2006
    ..by mutations in cardiac ion channel genes, the commonest known mutations being classified as LQT1, LQT2, and LQT3. The degree of QT prolongation is an independent risk factor for cardiac events...
  27. MULTI-ANALYTE WAVEGUIDE IMMUNOSENSING
    JAMES HERRON; Fiscal Year: 2002
    ..LQTS has been linked to genetic polymorphisms in four genes (KVLQT1,HERG, SCN5A & KCNE1) that encode for cardiac ion channels...
  28. Isolating and Characterizing Atypical Arrhythmia Genes
    Mark Keating; Fiscal Year: 2005
    ..Define and characterize common variants in SCN5A that contribute to drug-induced long QT syndrome...
  29. Regions of Na channel involved in permeation and gating
    Nipavan Chiamvimonvat; Fiscal Year: 2002
    ..g., one form of congenital long QT syndrome (LQT3). The long-term goals of this proposal are to understand the molecular basis for the function of Na+ channels...