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. ncbi 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
  2. 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
  3. ncbi 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
  4. ncbi 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. ncbi 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
  10. ncbi 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

Research Grants

  1. IMPROVING COMMUNICATION WITH IVF PATIENTS ABOUT RISKS SUCH AS MULTIPLE BIRTHS
    LINDA FRAZIER; Fiscal Year: 2007
  2. CONVENTIONAL INFERTILITY THERAPY VS FAST TRACK TO IVF
    Richard Reindollar; Fiscal Year: 2004
  3. Metformin Use During in Vitro Fertilization in Polycystic Ovary Syndrome
    Peter Casson; Fiscal Year: 2007
  4. Supporting Human ART Through Basic Science
    Barry Bavister; Fiscal Year: 2004
  5. Maternal Pesticide Exposure and Pregnancy Outcomes
    Russ Hauser; Fiscal Year: 2009
  6. Maternal Pesticide Exposure and Pregnancy Outcomes
    Russ Hauser; Fiscal Year: 2007
  7. MHC-BOUND, SIV-DERIVED, CTL AND HTL EPITOPES
    David Watkins; Fiscal Year: 2004
  8. Improved Implantation and Pregnancy Using Microfluidic Embryo Culture
    Xiaoyue Zhu; Fiscal Year: 2007
  9. HBEGF - A Role In Human Implantation
    Richard Leach; Fiscal Year: 2005
  10. REPRODUCTIVE MEDICINE AND THE LAW WORKSHOPS
    Robert Rebar; Fiscal Year: 2007

Detail Information

Publications197 found, 100 shown here

  1. ncbi 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...
  2. 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)...
  3. ncbi 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...
  4. ncbi 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)...
  5. 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...
  6. 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...
  7. 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...
  8. 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+ ..
  9. ncbi 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...
  10. ncbi 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, ..
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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...
  14. ncbi 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)...
  15. ncbi 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...
  16. 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...
  17. ncbi 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...
  18. ncbi 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...
  19. ncbi 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. 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 ..
  21. 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).
  22. 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.
  23. 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)...
  24. 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...
  25. 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...
  26. 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)...
  27. 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...
  28. 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...
  29. 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...
  30. 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 ..
  31. ncbi 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 ..
  32. 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 ..
  33. 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...
  34. 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)...
  35. ncbi 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 ..
  36. ncbi 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...
  37. ncbi 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...
  38. 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...
  39. 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)...
  40. ncbi 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...
  41. 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...
  42. ncbi 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...
  43. ncbi 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 ..
  44. 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 ..
  45. 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...
  46. 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.
  47. ncbi 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).
  48. 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...
  49. ncbi 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...
  50. ncbi 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...
  51. 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 ..
  52. ncbi Cardiac conduction defects associate with mutations in SCN5A
    J J Schott
    , INSERM CJF96-01, France
    Nat Genet 23:20-1. 1999
  53. 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 ..
  54. 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...
  55. 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...
  56. 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...
  57. 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)...
  58. 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...
  59. 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)...
  60. ncbi 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 ..
  61. 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 ..
  62. 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...
  63. 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...
  64. 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 ..
  65. 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)...
  66. 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)...
  67. 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 ..
  68. 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...
  69. ncbi 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...
  70. ncbi 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...
  71. ncbi 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...
  72. 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.
  73. 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...
  74. 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).
  75. 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)...
  76. 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...
  77. 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 ..
  78. 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...
  79. 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 ..
  80. 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...
  81. ncbi Oxytocin and vasopressin V(1A) receptors as new therapeutic targets in assisted reproduction
    Piotr Pierzynski
    Centre for Reproductive Medicine London CRM London, Park Lorne, 111 Park Road, London NW8 7JL, United Kingdom
    Reprod Biomed Online 22:9-16. 2011
    Embryo transfer, the final stage of IVF/embryo transfer (IVF/ET) treatment, independently influences treatment outcome...
  82. ncbi Treating female infertility and improving IVF pregnancy rates with a manual physical therapy technique
    Belinda F Wurn
    Clear Passage Therapies, Gainesville, Florida 32606, USA
    MedGenMed 6:51. 2004
    ..Infertility and pregnancy...
  83. ncbi Endocrine parameters of human follicular fluid and fertilization capacity of oocytes
    C Lindner
    , , Germany
    Horm Metab Res 20:243-6. 1988
    The induction of multiple follicular growth during ovarian stimulation for in vitro fertilization (IVF) implies follicular asynchrony. As a consequence oocytes of different quality are obtained...
  84. ncbi A more womb-like chip for IVF was born in Japan
    Hl Xu
    The University of Tokyo, Tokyo 113 8655, Japan
    Biosci Trends 1:117-8. 2007
    Since the birth of Louise Brown, the first test-tube baby in 1978, in vitro fertilization (IVF) has produced approximately three million infants worldwide...
  85. ncbi Repolarization abnormality in idiopathic ventricular fibrillation: assessment using 24-hour QT-RR and QaT-RR relationships
    Akira Fujiki
    Second Department of Internal Medicine, Toyama Medical and Pharmaceutical University, Sugitani, Toyama, Japan
    J Cardiovasc Electrophysiol 15:59-63. 2004
    ..of QT-RR and QaT (apex of T wave)-RR relationships in patients with idiopathic ventricular fibrillation (IVF) compared with control subjects...
  86. ncbi Ovulation induction with gonadotropins and intrauterine insemination compared with in vitro fertilization and no therapy: a prospective, nonrandomized, cohort study and meta-analysis
    C M Peterson
    Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City
    Fertil Steril 62:535-44. 1994
    To determine whether one to four cycles of ovulation induction with hMG and IUI or one cycle of IVF results in the highest pregnancy rate and is least expensive and whether published pregnancy rates for one to four cycles of hMG and IUI ..
  87. ncbi Comparison of slow inactivation in human heart and rat skeletal muscle Na+ channel chimaeras
    J P O'Reilly
    Department of Anesthesia, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    J Physiol 515:61-73. 1999
    ..inactivation, activation and fast inactivation in alpha-subunit cDNA clones for wild-type human heart Na+ channels (hH1) and rat skeletal muscle Na+ channels (mu1) transiently expressed in human embryonic kidney (HEK) cells...
  88. ncbi Development of in vitro matured, in vitro fertilized domestic cat embryos following cryopreservation, culture and transfer
    Martha C Gómez
    The Audubon Nature Institute Center for Research of Endangered Species, New Orleans, LA 70131, USA
    Theriogenology 60:239-51. 2003
    ..In Experiment 1, we evaluated the developmental competence of in vitro produced (IVM/IVF) cat embryos after cryopreservation on Days 2, 4 or 5 of IVC...
  89. ncbi Correlations between anti-müllerian hormone, inhibin B, and activin A in follicular fluid in IVF/ICSI patients for assessing the maturation and developmental potential of oocytes
    S Cupisti
    Dept of Obstetrics and Gynecology, Laboratory for Molecular Medicine, University Clinics, Erlangen, Germany
    Eur J Med Res 12:604-8. 2007
    ..AMH), inhibin B, and activin A in follicular fluid from patients receiving treatment with in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), to identify a parameter to assess the maturation and developmental ..
  90. ncbi 85 domestic cat kittens born after transfer of cryopreserved embryos produced by in vitro fertilization of oocytes with flow-sorted sperm
    C E Pope
    Audubon Center for Research of Endangered Species, New Orleans, LA, USA
    Reprod Fertil Dev 23:148. 2011
    ..Previously, we have demonstrated the in vivo developmental competence of cat embryos derived by IVF 1) with presumptive X-chromosome bearing sperm and 2) after controlled-rate cryopreservation...
  91. ncbi Mechanisms and management of congenital and acquired long QT syndromes
    R Lazzara
    Cardiovascular Section, University of Oklahoma, Health Sciences Center, Oklahoma City 73104, USA
    Arch Mal Coeur Vaiss 89:51-5. 1996
    ..In the congenital long QT syndromes, two mutations have recently been discovered in the genes SCN5A and HERG which encode respectively the Na+ channel and a K+ channel conducting the current IKr...
  92. ncbi Intervertebral foramen venous obstruction. A cause of periradicular fibrosis?
    J A Hoyland
    Department of Rheumatology, University of Manchester, England
    Spine (Phila Pa 1976) 14:558-68. 1989
    Disc herniation into the intervertebral foramen (IVF) or osteophytic outgrowths from the margins of the apophyseal joints that project into the IVF may compress the neural structures, but in this cadaveric study of 160 lumbar foramens (..
  93. ncbi A 3D model for the human hepatic asialoglycoprotein receptor (ASGP-R)
    A M Bianucci
    Dipartimento di Scienze Farmaceutiche, Universita di Pisa, Italy
    J Biomol Struct Dyn 18:435-51. 2000
    ..The two different polypeptide chains are referred to as two receptor subunits, HH1 and HH2, which are both involved in the activity of the functional receptor...
  94. ncbi Male diabetes mellitus and assisted reproduction treatment outcome
    James Mulholland
    Obstetrics and Gynaecology, Queen s University Belfast, UK
    Reprod Biomed Online 22:215-9. 2011
    ..a male diabetic seeking assisted reproduction treatment and assessed any relationship between male diabetes and IVF/intracytoplasmic sperm injection (ICSI) outcome. Eight (2...
  95. ncbi Effects of vascular endothelial growth factor on porcine preimplantation embryos produced by in vitro fertilization and somatic cell nuclear transfer
    D Biswas
    Laboratory of Veterinary Embryology and Biotechnology, College of Veterinary Medicine, Chungbuk National University, Cheongju 361 763, Chungbuk, South Korea
    Theriogenology 75:256-67. 2011
    ..the effects of vascular endothelial growth factor (VEGF) on porcine embryos produced by in vitro fertilization (IVF) and somatic cell nuclear transfer (SCNT) at different developmental stages...
  96. ncbi In vitro and in vivo developmental competence of dromedary (Camelus dromedarius) oocytes following in vitro fertilization or parthenogenetic activation
    H Khatir
    Veterinary Research Center, PO Box 44857, Abu Dhabi, United Arab Emirates
    Anim Reprod Sci 113:212-9. 2009
    ..Group 7 (n=196) oocytes were submitted to in vitro fertilization (IVF) and served as a control. All groups containing oocytes were cultured in vitro following activation or IVF, at 38...
  97. ncbi [Clinical effects of oocyte cryopreservation in assisted reproduction technology]
    Wei Wang
    Clinical Center of Reproductive Medicine, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China
    Zhonghua Yi Xue Za Zhi 88:2755-8. 2008
    ..To investigate the clinical effects of oocyte cryopreservation in assisted reproduction technology (ART)...

Research Grants119 found, 100 shown here

  1. 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)...
  2. 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 ..
  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. 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 ..
  5. 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...
  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. 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-..
  8. 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...
  9. 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...
  10. 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...
  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
    Christopher Davies; Fiscal Year: 2009
    ..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
    Kenneth L White; Fiscal Year: 2010
    ..in human and bovine pregnancies established by assisted reproductive technologies such as in vitro fertilization (IVF)...
  14. 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)...
  15. 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 ..
  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. 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)...
  19. EFFICACY OF MOUSE SPERM CRYOPRESERVATION
    LARRY MOBRAATEN; Fiscal Year: 2001
    ..2) Enhance in vitro fertilization (IVF) for gametes from different inbred strains...
  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: 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 ..
  23. 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 ..
  24. 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 ..
  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...