Affiliation: Vanderbilt University
- Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I geneM 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...
- Unmasked adult-onset urea cycle disorders in the critical care settingMarshall 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...
- Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase IMarshall 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...
- The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiencyA 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...
- Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodesMarshall 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...
- Vaccines are not associated with metabolic events in children with urea cycle disordersThomas 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...
- Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular functionMarshall 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...
- Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseasesSabrina 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...
- Multilocus analysis of hypertension: a hierarchical approachScott 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...
- Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group studyTodd 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...
- Respiratory syncytial virus infection reduces beta2-adrenergic responses in human airway smooth musclePaul 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....
- 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 studyJeffrey 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...
- Nitric oxide precursors and congenital heart surgery: a randomized controlled trial of oral citrullineHeidi 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...
- Effects of meals high in carbohydrate, protein, and fat on ghrelin and peptide YY secretion in prepubertal childrenJefferson 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...
- Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutationJeffrey 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...
- Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancerAsha 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....
- Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: potential therapy for postoperative pulmonary hypertensionFrederick 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...
- Genetic variation in complement component 2 of the classical complement pathway is associated with increased mortality and infection: a study of 627 patients with traumaJohn 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...
- Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutationsUte 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...
- Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgeryFrederick E Barr
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
J Pediatr 142:26-30. 2003....
- Genetic counseling issues in urea cycle disordersLisa 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...
- Prolonged hypoxia augments L-citrulline transport by system A in the newborn piglet pulmonary circulationCandice 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....
- Peptide tyrosine tyrosine levels are increased in patients with urea cycle disordersSabrina 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...
- Genetic differences in human circadian clock genes among worldwide populationsChristopher 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...
- L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigletsMadhumita 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...
- Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissuesMeaghan 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...
- Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthmaPaul 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...
- Late onset N-acetylglutamate synthase deficiency caused by hypomorphic allelesLjubica 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...
- Considerations in the difficult-to-manage urea cycle disorder patientBrendan Lee
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Crit Care Clin 21:S19-25. 2005....
- Cross-sectional multicenter study of patients with urea cycle disorders in the United StatesMendel 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...
- COMMON POLYMORPHISM EFFECTS ON UREA CYCLE FUNCTIONMarshall Summar; Fiscal Year: 2001..Positive results in this study will lead to further study of other conditions involving the derangement of waste nitrogen disposal. ..