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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 10 of 97

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Modulation of sulfur assimilation metabolic toxicity overcomes anemia and hemochromatosis in mice.
Hale AT, Brown RE, Luka Z, Hudson BH, Matta P, Williams CS, York JD
(2020) Adv Biol Regul 76: 100694
MeSH Terms: Anemia, Iron-Deficiency, Animals, Basic Helix-Loop-Helix Transcription Factors, Diet, Disease Models, Animal, Female, Gene Expression Regulation, Hemochromatosis, Hemochromatosis Protein, Homeostasis, Homozygote, Humans, Intestinal Mucosa, Iron, Liver, Male, Methionine, Mice, Mice, Knockout, Mutation, Nucleotidases, Organoids, Signal Transduction, Sulfur
Added March 30, 2020
0 Communities
2 Members
0 Resources
24 MeSH Terms
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP
(2015) Am J Hum Genet 97: 512-20
MeSH Terms: Adult, Aged, Amino Acid Substitution, Child, Cohort Studies, Female, Follow-Up Studies, Genetic Variation, Genotype, Hemochromatosis, Hemochromatosis Protein, Heterozygote, Histocompatibility Antigens Class I, Homozygote, Humans, Male, Membrane Proteins, Middle Aged, Penetrance, Prognosis, United States
Added March 14, 2018
0 Communities
2 Members
0 Resources
21 MeSH Terms
LRIG1 Regulates Ontogeny of Smooth Muscle-Derived Subsets of Interstitial Cells of Cajal in Mice.
Kondo J, Powell AE, Wang Y, Musser MA, Southard-Smith EM, Franklin JL, Coffey RJ
(2015) Gastroenterology 149: 407-19.e8
MeSH Terms: Animals, Fluorescent Antibody Technique, Homozygote, Integrases, Interstitial Cells of Cajal, Intestine, Small, Membrane Glycoproteins, Mice, Mice, Knockout, Muscle, Smooth, Myenteric Plexus, Nerve Tissue Proteins, Recombination, Genetic, Submucous Plexus
Added July 28, 2015
0 Communities
3 Members
0 Resources
14 MeSH Terms
Detection of internal exon deletion with exon Del.
Guo Y, Zhao S, Lehmann BD, Sheng Q, Shaver TM, Stricker TP, Pietenpol JA, Shyr Y
(2014) BMC Bioinformatics 15: 332
MeSH Terms: DNA Copy Number Variations, Exome, Exons, Genome, Human, Genomics, Homozygote, Humans, Sequence Analysis, DNA, Sequence Deletion
Added January 20, 2015
1 Communities
3 Members
0 Resources
9 MeSH Terms
Genetic variants in transcription factors are associated with the pharmacokinetics and pharmacodynamics of metformin.
Goswami S, Yee SW, Stocker S, Mosley JD, Kubo M, Castro R, Mefford JA, Wen C, Liang X, Witte J, Brett C, Maeda S, Simpson MD, Hedderson MM, Davis RL, Roden DM, Giacomini KM, Savic RM
(2014) Clin Pharmacol Ther 96: 370-9
MeSH Terms: Adult, Aged, Aged, 80 and over, Biomarkers, Diabetes Mellitus, Type 2, Female, Genome-Wide Association Study, Glycated Hemoglobin A, Hepatocyte Nuclear Factor 4, Homozygote, Humans, Hypoglycemic Agents, Male, Metformin, Middle Aged, Models, Biological, Multivariate Analysis, PPAR alpha, Pharmacogenetics, Phenotype, Polymorphism, Single Nucleotide, Retrospective Studies, Sp1 Transcription Factor, Transcription Factors, Treatment Outcome, United States, Young Adult
Added June 26, 2014
0 Communities
1 Members
0 Resources
27 MeSH Terms
Genetic and non-genetic determinants of raltegravir penetration into cerebrospinal fluid: a single arm pharmacokinetic study.
Johnson DH, Sutherland D, Acosta EP, Erdem H, Richardson D, Haas DW
(2013) PLoS One 8: e82672
MeSH Terms: ATP Binding Cassette Transporter, Subfamily B, ATP Binding Cassette Transporter, Subfamily B, Member 1, Adult, Anti-HIV Agents, Blood-Brain Barrier, Female, Genetic Association Studies, Homozygote, Humans, Male, Middle Aged, Permeability, Polymorphism, Single Nucleotide, Pyrrolidinones, Raltegravir Potassium, Risk Factors
Added March 13, 2015
0 Communities
1 Members
0 Resources
16 MeSH Terms
asunder is required for dynein localization and dorsal fate determination during Drosophila oogenesis.
Sitaram P, Merkle JA, Lee E, Lee LA
(2014) Dev Biol 386: 42-52
MeSH Terms: Alleles, Animals, Body Patterning, Cell Cycle Proteins, Cell Lineage, Cell Nucleus, Centrosome, Drosophila, Drosophila Proteins, Dyneins, Female, Gene Expression Regulation, Developmental, Genotype, Homozygote, In Situ Hybridization, Male, Oocytes, Oogenesis, Ovary, Phenotype, Sex Factors, Testis, Transgenes
Added March 5, 2014
0 Communities
1 Members
0 Resources
23 MeSH Terms
Intellectual disability is associated with increased runs of homozygosity in simplex autism.
Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M, Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH, Devlin B, Morrow EM
(2013) Am J Hum Genet 93: 103-9
MeSH Terms: Child, Child Development Disorders, Pervasive, Chromosomes, Human, Female, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetics, Population, Homozygote, Humans, Intellectual Disability, Intelligence Tests, Male, Pedigree, Phenotype, Sex Factors
Added February 20, 2014
0 Communities
1 Members
0 Resources
16 MeSH Terms
A common functional promoter variant links CNR1 gene expression to HDL cholesterol level.
Feng Q, Vickers KC, Anderson MP, Levin MG, Chen W, Harrison DG, Wilke RA
(2013) Nat Commun 4: 1973
MeSH Terms: Cholesterol, HDL, Chromosomes, Human, Cohort Studies, DNA, Demography, Electrophoretic Mobility Shift Assay, Gene Expression Regulation, Genes, Reporter, Haplotypes, Homozygote, Humans, Middle Aged, Molecular Sequence Data, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Protein Binding, Receptor, Cannabinoid, CB1, Sequence Analysis, DNA
Added February 12, 2015
1 Communities
2 Members
0 Resources
18 MeSH Terms
Negative life stress and longitudinal hippocampal volume changes in older adults with and without depression.
Zannas AS, McQuoid DR, Payne ME, Steffens DC, MacFall JR, Ashley-Koch A, Taylor WD
(2013) J Psychiatr Res 47: 829-34
MeSH Terms: Aged, Aging, Depressive Disorder, Female, Follow-Up Studies, Functional Laterality, Hippocampus, Homozygote, Humans, Male, Polymorphism, Genetic, Serotonin Plasma Membrane Transport Proteins, Stress, Psychological, Time Factors
Added May 20, 2014
0 Communities
1 Members
0 Resources
14 MeSH Terms