Marshall Summar

Summary

Affiliation: Vanderbilt University
Country: USA

Publications

  1. ncbi request reprint Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene
    M L Summar
    Division of Medical Genetics, Vanderbilt University, Medical Center North DD2205, Nashville, TN 37232 2578, USA
    Gene 311:51-7. 2003
  2. ncbi request reprint Unmasked adult-onset urea cycle disorders in the critical care setting
    Marshall L Summar
    Center for Human Genetic Research, Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232 0165, USA
    Crit Care Clin 21:S1-8. 2005
  3. ncbi request reprint Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I
    Marshall L Summar
    Division of Medical Genetics, Department of Pediatrics and Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Mol Genet Metab 81:S12-9. 2004
  4. ncbi request reprint The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency
    A M Eeds
    Vanderbilt University, Center for Human Genetic Research, Department of Molecular Physiology and Biophysics, Nashville, TN, USA
    Mol Genet Metab 89:80-6. 2006
  5. pmc Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
    Marshall L Summar
    Vanderbilt University Medical Center, Nashville, TN, USA
    Acta Paediatr 97:1420-5. 2008
  6. pmc Vaccines are not associated with metabolic events in children with urea cycle disorders
    Thomas M Morgan
    Department of Pediatrics Division of Genetics and Genomic Medicine, Vanderbilt University School of Medicine, DD 2205 Medical Center North, Nashville, TN 37232 2578, USA
    Pediatrics 127:e1147-53. 2011
  7. ncbi request reprint Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function
    Marshall L Summar
    Department of Pediatrics, Division of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tenn 37232 6602, USA
    Hypertension 43:186-91. 2004
  8. doi request reprint Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
    Sabrina Mitchell
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Hum Mutat 30:56-60. 2009
  9. ncbi request reprint Multilocus analysis of hypertension: a hierarchical approach
    Scott M Williams
    Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Hum Hered 57:28-38. 2004
  10. ncbi request reprint Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study
    Todd Hulgan
    Division of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37203, USA
    AIDS 19:1341-9. 2005

Research Grants

  1. COMMON POLYMORPHISM EFFECTS ON UREA CYCLE FUNCTION
    Marshall Summar; Fiscal Year: 2001

Collaborators

Detail Information

Publications30

  1. ncbi request reprint Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene
    M L Summar
    Division of Medical Genetics, Vanderbilt University, Medical Center North DD2205, Nashville, TN 37232 2578, USA
    Gene 311:51-7. 2003
    ..The knowledge of the CPSI gene structure and the 14 polymorphisms presented in this study will greatly facilitate future molecular studies involving the CPSI gene and the enzyme it encodes...
  2. ncbi request reprint Unmasked adult-onset urea cycle disorders in the critical care setting
    Marshall L Summar
    Center for Human Genetic Research, Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232 0165, USA
    Crit Care Clin 21:S1-8. 2005
    ..Comorbid conditions such as physical trauma often delay the diagnosis of the urea cycle defect. Prompt recognition and treatment are essential in determining the outcome of these patients...
  3. ncbi request reprint Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I
    Marshall L Summar
    Division of Medical Genetics, Department of Pediatrics and Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Mol Genet Metab 81:S12-9. 2004
    ..This knowledge should allow us to design intervention strategies to either predict or modify the associated adverse outcomes...
  4. ncbi request reprint The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency
    A M Eeds
    Vanderbilt University, Center for Human Genetic Research, Department of Molecular Physiology and Biophysics, Nashville, TN, USA
    Mol Genet Metab 89:80-6. 2006
    ..This study provides evidence for the high prevalence of RNA instability mutations in genetic disease and underscores the importance of accounting for them in mutation-screening strategies...
  5. pmc Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
    Marshall L Summar
    Vanderbilt University Medical Center, Nashville, TN, USA
    Acta Paediatr 97:1420-5. 2008
    ..A large longitudinal interventional study of patients with a urea cycle disorder (UCD) in hyperammonaemic crisis was undertaken to amass a significant body of data on their presenting symptoms and survival...
  6. pmc Vaccines are not associated with metabolic events in children with urea cycle disorders
    Thomas M Morgan
    Department of Pediatrics Division of Genetics and Genomic Medicine, Vanderbilt University School of Medicine, DD 2205 Medical Center North, Nashville, TN 37232 2578, USA
    Pediatrics 127:e1147-53. 2011
    ..Patients with UCDs are subject to hyperammonemic episodes (HAEs) after infection, fever, or other stressors...
  7. ncbi request reprint Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function
    Marshall L Summar
    Department of Pediatrics, Division of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tenn 37232 6602, USA
    Hypertension 43:186-91. 2004
    ..943). These data indicate that a polymorphism in the gene encoding carbamoyl-phosphate synthetase 1 influences nitric oxide production as well as vascular smooth muscle reactivity...
  8. doi request reprint Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
    Sabrina Mitchell
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Hum Mutat 30:56-60. 2009
    ..Screening all the genes in the pathway provides a catalog of variants that can be used in investigating candidate diseases...
  9. ncbi request reprint Multilocus analysis of hypertension: a hierarchical approach
    Scott M Williams
    Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Hum Hered 57:28-38. 2004
    ..5% of the time. Thus, our data indicate epistatic interactions play a major role in hypertension susceptibility. Our data also support a model where multiple pathways need to be affected in order to predispose to hypertension...
  10. ncbi request reprint Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study
    Todd Hulgan
    Division of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37203, USA
    AIDS 19:1341-9. 2005
    ..The objective of this study was to determine if NRTI-associated peripheral neuropathy is associated with European mitochondrial haplogroups...
  11. pmc Respiratory syncytial virus infection reduces beta2-adrenergic responses in human airway smooth muscle
    Paul E Moore
    Vanderbilt University School of Medicine, 2200 Children s Way, 11215 Doctor s Office Tower, Nashville, TN 37232 9500, USA
    Am J Respir Cell Mol Biol 35:559-64. 2006
    ....
  12. pmc Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study
    Jeffrey A Canter
    Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
    Mitochondrion 7:204-10. 2007
    ..In conclusion, the CPSI T1405N genotype appears to be an important new factor in predicting susceptibility to increased PAP following surgical repair of congenital cardiac defects in children...
  13. ncbi request reprint Nitric oxide precursors and congenital heart surgery: a randomized controlled trial of oral citrulline
    Heidi A B Smith
    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tenn, USA
    J Thorac Cardiovasc Surg 132:58-65. 2006
    ..The study sought to determine whether citrulline supplementation, a precursor to nitric oxide synthesis, is safe and efficacious in increasing plasma citrulline concentrations and decreasing the risk of postoperative pulmonary hypertension...
  14. pmc Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal children
    Jefferson P Lomenick
    Department of Pediatrics, Division of Endocrinology and Molecular Medicine, University of Kentucky College of Medicine, Lexington, Kentucky 40508, USA
    J Clin Endocrinol Metab 94:4463-71. 2009
    ..However, little is known about their secretion in response to meals high in individual macronutrients in prepubertal children...
  15. ncbi request reprint Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation
    Jeffrey A Canter
    Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, 519 Light Hall, Nashville, TN 37232 0700, USA
    Free Radic Biol Med 38:678-83. 2005
    ..The most important novel finding from this family is that some currently asymptomatic individuals with moderate heteroplasmy have evidence of ongoing free-radical mediated oxidant injury...
  16. ncbi request reprint Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer
    Asha R Kallianpur
    Department of Medicine, Division of General Internal Medicine, Vanderbilt University Medical Center, and VA Center for Health Services Research, Veterans Affairs Medical Center, Nashville, Tennessee, USA
    Cancer Epidemiol Biomarkers Prev 13:205-12. 2004
    ....
  17. ncbi request reprint Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: potential therapy for postoperative pulmonary hypertension
    Frederick E Barr
    Department of Pediatrics, Pediatric Critical Care, Vanderbilt Children s Hospital, Vanderbilt University Medical Center, Nashville, Tenn, USA
    J Thorac Cardiovasc Surg 134:319-26. 2007
    ..In this study, we assessed the safety and pharmacokinetic profile of intravenous citrulline as a potential therapy for postoperative pulmonary hypertension...
  18. pmc Genetic variation in complement component 2 of the classical complement pathway is associated with increased mortality and infection: a study of 627 patients with trauma
    John A Morris
    Division of Trauma and Surgical Critical Care, Vanderbilt University Medical Center, Nashville, Tennessee, USA
    J Trauma 66:1265-70; discussion 1270-2. 2009
    ..Consequently, genetic variation in C2 may stratify patient risk and illuminate underlying mechanisms for therapeutic intervention...
  19. ncbi request reprint Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations
    Ute Spiekerkoetter
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    Hum Mutat 20:447-51. 2002
    ..TFP deficiency is another disorder that has become manifest due to isodisomy of chromosome 2. This information will impact genetic counseling for these families, reducing greatly the 25% risk normally used for recessive disorders...
  20. ncbi request reprint Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery
    Frederick E Barr
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    J Pediatr 142:26-30. 2003
    ....
  21. ncbi request reprint Genetic counseling issues in urea cycle disorders
    Lisa Sniderman King
    Department of Pediatrics, Division of Genetics and Development, University of Washington, Seattle, WA, USA
    Crit Care Clin 21:S37-44. 2005
    ..Included case histories illustrate the genetic counseling process and the decision-making scenarios for two families...
  22. pmc Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulation
    Candice D Fike
    Department of Pediatrics, University School of Medicine, Vanderbilt University Medical Center, 2215 B Garland Ave, Nashville, TN 37232 0656, USA
    Cardiovasc Res 95:375-84. 2012
    ....
  23. pmc Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders
    Sabrina Mitchell
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Mol Genet Metab 106:39-42. 2012
    ..These observations may lead to a better understanding of the development of anorexia in UCD patients...
  24. pmc Genetic differences in human circadian clock genes among worldwide populations
    Christopher M Ciarleglio
    Department of Biological Sciences, Neuroscience Graduate Program, Vanderbilt University, Nashville, TN, USA
    J Biol Rhythms 23:330-40. 2008
    ..Population genetic analyses indicate that these differences are likely to arise from genetic drift rather than from natural selection...
  25. doi request reprint L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets
    Madhumita Ananthakrishnan
    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, Nashville, TN, USA
    Am J Physiol Lung Cell Mol Physiol 297:L506-11. 2009
    ..We speculate that l-citrulline may benefit neonates exposed to prolonged periods of hypoxia from cardiac or pulmonary causes...
  26. pmc Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues
    Meaghan Anne Neill
    Pediatrics and Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University Medical Center, 1175J MRB IV, Nashville, TN 37232 0007, USA
    Mol Genet Metab 97:121-7. 2009
    ..Finally, this work reaffirms the concept that the co-expression of a few genes can significantly impact complex biochemical and physiologic processes...
  27. doi request reprint Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma
    Paul E Moore
    Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 9500, USA
    Pediatr Pulmonol 44:649-54. 2009
    ..Our findings also suggest that genetic variants may contribute to the observed population disparities in asthma...
  28. ncbi request reprint Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles
    Ljubica Caldovic
    Children s Research Institute, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    Hum Mutat 25:293-8. 2005
    ..These studies provide a better understanding of the function of NAGS, and the mechanisms for deleterious effect of mutations causing inherited NAGS deficiency...
  29. ncbi request reprint Considerations in the difficult-to-manage urea cycle disorder patient
    Brendan Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Crit Care Clin 21:S19-25. 2005
    ....
  30. pmc Cross-sectional multicenter study of patients with urea cycle disorders in the United States
    Mendel Tuchman
    Children s National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N W, Washington, DC 20010, USA
    Mol Genet Metab 94:397-402. 2008
    ..Plasma glutamine levels were higher in proximal UCD and in neonatal type disease. The RDCRN allows comprehensive analyses of rare inherited UCD, their frequencies and current medical practices...

Research Grants3

  1. COMMON POLYMORPHISM EFFECTS ON UREA CYCLE FUNCTION
    Marshall Summar; Fiscal Year: 2001
    ..Positive results in this study will lead to further study of other conditions involving the derangement of waste nitrogen disposal. ..