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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: 11 to 20 of 455

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Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks.
Haliyur R, Tong X, Sanyoura M, Shrestha S, Lindner J, Saunders DC, Aramandla R, Poffenberger G, Redick SD, Bottino R, Prasad N, Levy SE, Blind RD, Harlan DM, Philipson LH, Stein RW, Brissova M, Powers AC
(2019) J Clin Invest 129: 246-251
MeSH Terms: Adolescent, Adult, Diabetes Mellitus, Type 1, Genetic Variation, Hepatocyte Nuclear Factor 1-alpha, Heterozygote, Humans, Insulin-Secreting Cells, Male, Transcription, Genetic
Added December 7, 2018
0 Communities
4 Members
0 Resources
10 MeSH Terms
Single Quantum Dot Imaging Reveals PKCβ-Dependent Alterations in Membrane Diffusion and Clustering of an Attention-Deficit Hyperactivity Disorder/Autism/Bipolar Disorder-Associated Dopamine Transporter Variant.
Thal LB, Tomlinson ID, Quinlan MA, Kovtun O, Blakely RD, Rosenthal SJ
(2019) ACS Chem Neurosci 10: 460-471
MeSH Terms: Attention Deficit Disorder with Hyperactivity, Autistic Disorder, Bipolar Disorder, Cell Membrane, Diffusion, Dopamine Plasma Membrane Transport Proteins, Genetic Variation, HEK293 Cells, Humans, Protein Kinase C beta, Quantum Dots, Valine
Added March 7, 2022
0 Communities
1 Members
0 Resources
MeSH Terms
Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use.
Marees AT, Hammerschlag AR, Bastarache L, de Kluiver H, Vorspan F, van den Brink W, Smit DJ, Denys D, Gamazon ER, Li-Gao R, Breetvelt EJ, de Groot MCH, Galesloot TE, Vermeulen SH, Poppelaars JL, Souverein PC, Keeman R, de Mutsert R, Noordam R, Rosendaal FR, Stringa N, Mook-Kanamori DO, Vaartjes I, Kiemeney LA, den Heijer M, van Schoor NM, Klungel OH, Maitland-Van der Zee AH, Schmidt MK, Polderman TJC, van der Leij AR, Posthuma D, Derks EM
(2018) Drug Alcohol Depend 188: 94-101
MeSH Terms: Alcohol Drinking, Alcoholism, Cohort Studies, Exons, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Receptors, Nicotinic, Risk Factors, Tobacco Use, Tobacco Use Disorder
Added May 26, 2018
0 Communities
1 Members
0 Resources
15 MeSH Terms
Opportunities and Challenges in Cardiovascular Pharmacogenomics: From Discovery to Implementation.
Roden DM, Van Driest SL, Wells QS, Mosley JD, Denny JC, Peterson JF
(2018) Circ Res 122: 1176-1190
MeSH Terms: Biological Variation, Individual, Biotransformation, Cardiovascular Agents, Drug Development, Drug-Related Side Effects and Adverse Reactions, Forecasting, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Genomics, Genotyping Techniques, Human Genome Project, Humans, Pharmacogenetics, Precision Medicine, Randomized Controlled Trials as Topic, Risk Assessment, Sample Size
Added March 24, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid Levels in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS).
Gao C, Tabb KL, Dimitrov LM, Taylor KD, Wang N, Guo X, Long J, Rotter JI, Watanabe RM, Curran JE, Blangero J, Langefeld CD, Bowden DW, Palmer ND
(2018) Sci Rep 8: 5603
MeSH Terms: Adult, Apolipoprotein A-V, Atherosclerosis, Carrier Proteins, Female, Genetic Linkage, Genetic Variation, Genome-Wide Association Study, Humans, Insulin Resistance, Lipids, Lipoproteins, HDL, Mexican Americans, Middle Aged, Polymorphism, Single Nucleotide, Triglycerides, Whole Exome Sequencing
Added April 10, 2018
0 Communities
1 Members
0 Resources
17 MeSH Terms
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC
(2018) Science 359: 1233-1239
MeSH Terms: DNA Mutational Analysis, Databases, Genetic, Electronic Health Records, Exome, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Risk Factors
Added March 24, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Factors driving metabolic diversity in the budding yeast subphylum.
Opulente DA, Rollinson EJ, Bernick-Roehr C, Hulfachor AB, Rokas A, Kurtzman CP, Hittinger CT
(2018) BMC Biol 16: 26
MeSH Terms: Biological Evolution, Genetic Variation, Metabolic Networks and Pathways, Phylogeny, Saccharomycetales
Added March 21, 2018
0 Communities
1 Members
0 Resources
5 MeSH Terms
The Role of Mitochondrial DNA Variation in Age-Related Decline in Gait Speed Among Older Men Living With Human Immunodeficiency Virus.
Sun J, Brown TT, Samuels DC, Hulgan T, D'Souza G, Jamieson BD, Erlandson KM, Martinson J, Palella FJ, Margolick JB, Kirk GD, Schrack JA
(2018) Clin Infect Dis 67: 778-784
MeSH Terms: Age Factors, Aging, Body Composition, Cohort Studies, DNA, Mitochondrial, Genetic Variation, HIV Infections, Haplotypes, Humans, Logistic Models, Male, Middle Aged, Odds Ratio, Risk Factors, Sexual and Gender Minorities, Walking Speed
Added March 21, 2018
0 Communities
2 Members
0 Resources
16 MeSH Terms
Examination of Signatures of Recent Positive Selection on Genes Involved in Human Sialic Acid Biology.
Moon JM, Aronoff DM, Capra JA, Abbot P, Rokas A
(2018) G3 (Bethesda) 8: 1315-1325
MeSH Terms: Genetic Variation, Humans, N-Acetylneuraminic Acid, Nucleotides, Selection, Genetic
Added March 14, 2018
0 Communities
2 Members
0 Resources
5 MeSH Terms
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.
Giudicessi JR, Roden DM, Wilde AAM, Ackerman MJ
(2018) Circulation 137: 619-630
MeSH Terms: Action Potentials, Diagnostic Errors, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Heart Conduction System, Heart Rate, Humans, Long QT Syndrome, NAV1.5 Voltage-Gated Sodium Channel, Phenotype, Potassium Channels, Voltage-Gated, Predictive Value of Tests, Prognosis, Reproducibility of Results, Risk Assessment, Risk Factors
Added March 24, 2020
0 Communities
1 Members
0 Resources
MeSH Terms