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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 9 of 9

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Epithelial VEGF signaling is required in the mouse liver for proper sinusoid endothelial cell identity and hepatocyte zonation in vivo.
Walter TJ, Cast AE, Huppert KA, Huppert SS
(2014) Am J Physiol Gastrointest Liver Physiol 306: G849-62
MeSH Terms: Animals, Carbamoyl-Phosphate Synthase (Ammonia), Cell Differentiation, Endothelial Cells, Endothelium, Glutamate-Ammonia Ligase, Hepatocytes, Hypoxia, Liver, Mice, Mice, Knockout, Vascular Endothelial Growth Factor A
Added May 27, 2014
0 Communities
1 Members
0 Resources
12 MeSH Terms
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, Summar M, Urea Cycle Disorder Consortium
(2009) Hum Mutat 30: 56-60
MeSH Terms: Ammonia, Arginase, Argininosuccinate Lyase, Argininosuccinate Synthase, Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase (Ammonia), Genetic Predisposition to Disease, Genetic Variation, Humans, Hyperargininemia, Ornithine Carbamoyltransferase, Ornithine Carbamoyltransferase Deficiency Disease, Polymorphism, Single-Stranded Conformational, Urea
Added July 6, 2017
0 Communities
1 Members
0 Resources
14 MeSH Terms
Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.
Eeds AM, Mortlock D, Wade-Martins R, Summar ML
(2007) Am J Hum Genet 80: 740-50
MeSH Terms: Alternative Splicing, Blotting, Northern, Blotting, Western, Carbamoyl-Phosphate Synthase (Ammonia), Chromosomes, Artificial, Bacterial, DNA Mutational Analysis, DNA Primers, Gene Expression, Genetic Variation, Genetic Vectors, Humans, Phenotype, RNA Interference, Reverse Transcriptase Polymerase Chain Reaction, Transfection
Added June 9, 2010
1 Communities
1 Members
0 Resources
15 MeSH Terms
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.
Canter JA, Summar ML, Smith HB, Rice GD, Hall LD, Ritchie MD, Motsinger AA, Christian KG, Drinkwater DC, Scholl FG, Dyer KL, Kavanaugh-McHugh AL, Barr FE
(2007) Mitochondrion 7: 204-10
MeSH Terms: Carbamoyl-Phosphate Synthase (Ammonia), Cohort Studies, DNA, DNA Primers, Down Syndrome, Female, Genetic Variation, Heart Defects, Congenital, Humans, Hypertension, Pulmonary, Infant, Male, Polymerase Chain Reaction, Polymorphism, Genetic, Postoperative Complications, Reproducibility of Results
Added July 6, 2017
0 Communities
1 Members
0 Resources
16 MeSH Terms
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML
(2006) Mol Genet Metab 89: 80-6
MeSH Terms: Alleles, Carbamoyl-Phosphate Synthase (Ammonia), Carbamoyl-Phosphate Synthase I Deficiency Disease, Codon, Nonsense, DNA Mutational Analysis, Female, Humans, Infant, Infant, Newborn, Male, RNA Stability, RNA, Messenger, Reverse Transcriptase Polymerase Chain Reaction
Added July 6, 2017
0 Communities
1 Members
0 Resources
13 MeSH Terms
The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation.
Kallianpur AR, Hall LD, Yadav M, Byrne DW, Speroff T, Dittus RS, Haines JL, Christman BW, Summar ML
(2005) Bone Marrow Transplant 35: 1155-64
MeSH Terms: Adult, Alleles, Breast Neoplasms, Carbamoyl-Phosphate Synthase (Ammonia), Female, Genetic Predisposition to Disease, Genotype, Hematologic Neoplasms, Hematopoietic Stem Cell Transplantation, Hemochromatosis, Hepatic Veno-Occlusive Disease, Humans, Iron, Male, Middle Aged, Mutation, Missense, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Prospective Studies, Risk Factors
Added March 5, 2014
0 Communities
3 Members
0 Resources
20 MeSH Terms
Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.
Summar ML, Hall L, Christman B, Barr F, Smith H, Kallianpur A, Brown N, Yadav M, Willis A, Eeds A, Cermak E, Summar S, Wilson A, Arvin M, Putnam A, Wills M, Cunningham G
(2004) Mol Genet Metab 81 Suppl 1: S12-9
MeSH Terms: Bone Marrow Transplantation, Carbamoyl-Phosphate Synthase (Ammonia), Carbamoyl-Phosphate Synthase I Deficiency Disease, Chi-Square Distribution, Gene Expression, Genetic Variation, Genotype, Humans, Hypertension, Pulmonary, Infant, Newborn, Models, Biological, Mutation, Nitric Oxide
Added February 19, 2015
0 Communities
2 Members
0 Resources
13 MeSH Terms
Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function.
Summar ML, Gainer JV, Pretorius M, Malave H, Harris S, Hall LD, Weisberg A, Vaughan DE, Christman BW, Brown NJ
(2004) Hypertension 43: 186-91
MeSH Terms: Adult, Arginine, Bradykinin, Carbamoyl-Phosphate Synthase (Ammonia), Citrulline, Female, Forearm, Genotype, Humans, Male, Nitric Oxide, Nitric Oxide Donors, Nitroprusside, Polymorphism, Genetic, Regional Blood Flow, Urea, Vasodilation, Vasodilator Agents
Added December 10, 2013
0 Communities
2 Members
0 Resources
18 MeSH Terms
Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.
Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP
(2003) Gene 311: 51-7
MeSH Terms: Animals, Base Sequence, Carbamoyl-Phosphate Synthase (Ammonia), DNA, DNA Primers, DNA, Complementary, Exons, Genes, Humans, Introns, Molecular Sequence Data, Polymorphism, Genetic, Rats, Sequence Analysis, DNA
Added July 6, 2017
0 Communities
1 Members
0 Resources
14 MeSH Terms