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Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping.
Gamazon ER, Konkashbaev A, Derks EM, Cox NJ, Lee Y
(2017) Sci Rep 7: 5980
MeSH Terms: Chromosome Mapping, Disease, Genetic Loci, Genetics, Population, Genome-Wide Association Study, Humans, Introns, Nucleotide Motifs, Polymorphism, Single Nucleotide, RNA Splicing, Selection, Genetic
Added October 27, 2017
0 Communities
1 Members
0 Resources
11 MeSH Terms
Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin.
Liu CT, Raghavan S, Maruthur N, Kabagambe EK, Hong J, Ng MC, Hivert MF, Lu Y, An P, Bentley AR, Drolet AM, Gaulton KJ, Guo X, Armstrong LL, Irvin MR, Li M, Lipovich L, Rybin DV, Taylor KD, Agyemang C, Palmer ND, Cade BE, Chen WM, Dauriz M, Delaney JA, Edwards TL, Evans DS, Evans MK, Lange LA, Leong A, Liu J, Liu Y, Nayak U, Patel SR, Porneala BC, Rasmussen-Torvik LJ, Snijder MB, Stallings SC, Tanaka T, Yanek LR, Zhao W, Becker DM, Bielak LF, Biggs ML, Bottinger EP, Bowden DW, Chen G, Correa A, Couper DJ, Crawford DC, Cushman M, Eicher JD, Fornage M, Franceschini N, Fu YP, Goodarzi MO, Gottesman O, Hara K, Harris TB, Jensen RA, Johnson AD, Jhun MA, Karter AJ, Keller MF, Kho AN, Kizer JR, Krauss RM, Langefeld CD, Li X, Liang J, Liu S, Lowe WL, Mosley TH, North KE, Pacheco JA, Peyser PA, Patrick AL, Rice KM, Selvin E, Sims M, Smith JA, Tajuddin SM, Vaidya D, Wren MP, Yao J, Zhu X, Ziegler JT, Zmuda JM, Zonderman AB, Zwinderman AH, AAAG Consortium, CARe Consortium, COGENT-BP Consortium, eMERGE Consortium, MEDIA Consortium, Adeyemo A, Boerwinkle E, Ferrucci L, Hayes MG, Kardia SL, Miljkovic I, Pankow JS, Rotimi CN, Sale MM, Wagenknecht LE, Arnett DK, Chen YD, Nalls MA, MAGIC Consortium, Province MA, Kao WH, Siscovick DS, Psaty BM, Wilson JG, Loos RJ, Dupuis J, Rich SS, Florez JC, Rotter JI, Morris AP, Meigs JB
(2016) Am J Hum Genet 99: 56-75
MeSH Terms: Asians, Blacks, Blood Glucose, Diabetes Mellitus, Type 2, Enhancer Elements, Genetic, Ethnicity, Fasting, Female, Gene Frequency, Genome-Wide Association Study, Humans, Insulin, Insulin Resistance, Introns, Islets of Langerhans, Male, Molecular Sequence Annotation, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Racial Groups, Transcription Factors, Whites
Added July 10, 2016
0 Communities
2 Members
0 Resources
22 MeSH Terms
EGFR Fusions as Novel Therapeutic Targets in Lung Cancer.
Konduri K, Gallant JN, Chae YK, Giles FJ, Gitlitz BJ, Gowen K, Ichihara E, Owonikoko TK, Peddareddigari V, Ramalingam SS, Reddy SK, Eaby-Sandy B, Vavalà T, Whiteley A, Chen H, Yan Y, Sheehan JH, Meiler J, Morosini D, Ross JS, Stephens PJ, Miller VA, Ali SM, Lovly CM
(2016) Cancer Discov 6: 601-11
MeSH Terms: Adult, Antineoplastic Agents, Biomarkers, Cell Line, Tumor, Combined Modality Therapy, ErbB Receptors, Exons, Female, Genetic Loci, High-Throughput Nucleotide Sequencing, Humans, Introns, Lung Neoplasms, Magnetic Resonance Imaging, Male, Middle Aged, Models, Molecular, Molecular Targeted Therapy, Neoplasm Metastasis, Oncogene Proteins, Fusion, Protein Conformation, Protein Kinase Inhibitors, Rad51 Recombinase, Young Adult
Added April 8, 2017
1 Communities
3 Members
0 Resources
24 MeSH Terms
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.
Carroll C, Hunley TE, Guo Y, Cortez D
(2015) Am J Med Genet A 167A: 2260-4
MeSH Terms: Arteriosclerosis, Child, DNA Helicases, DNA Replication, Exons, Female, Gene Expression, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Introns, Lymphocytes, Mutation, Nephrotic Syndrome, Osteochondrodysplasias, Pedigree, Primary Immunodeficiency Diseases, Pulmonary Embolism, RNA Splice Sites
Added February 4, 2016
0 Communities
2 Members
0 Resources
19 MeSH Terms
Obesity-associated variants within FTO form long-range functional connections with IRX3.
Smemo S, Tena JJ, Kim KH, Gamazon ER, Sakabe NJ, Gómez-Marín C, Aneas I, Credidio FL, Sobreira DR, Wasserman NF, Lee JH, Puviindran V, Tam D, Shen M, Son JE, Vakili NA, Sung HK, Naranjo S, Acemel RD, Manzanares M, Nagy A, Cox NJ, Hui CC, Gomez-Skarmeta JL, Nóbrega MA
(2014) Nature 507: 371-5
MeSH Terms: Adipose Tissue, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Animals, Basal Metabolism, Body Mass Index, Body Weight, Brain, Diabetes Mellitus, Type 2, Diet, Genes, Dominant, Homeodomain Proteins, Humans, Hypothalamus, Introns, Male, Mice, Mixed Function Oxygenases, Obesity, Oxo-Acid-Lyases, Phenotype, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Proteins, Thinness, Transcription Factors, Zebrafish
Added February 22, 2016
0 Communities
2 Members
0 Resources
26 MeSH Terms
CYP3A4 intron 6 C>T polymorphism (CYP3A4*22) is associated with reduced CYP3A4 protein level and function in human liver microsomes.
Okubo M, Murayama N, Shimizu M, Shimada T, Guengerich FP, Yamazaki H
(2013) J Toxicol Sci 38: 349-54
MeSH Terms: Alleles, Asians, Cytochrome P-450 CYP3A, Genotype, Humans, Introns, Microsomes, Liver, Oxidation-Reduction, Pharmaceutical Preparations, Polymorphism, Genetic
Added March 10, 2014
0 Communities
1 Members
0 Resources
10 MeSH Terms
Putting pleiotropy and selection into context defines a new paradigm for interpreting genetic data.
Predazzi IM, Rokas A, Deinard A, Schnetz-Boutaud N, Williams ND, Bush WS, Tacconelli A, Friedrich K, Fazio S, Novelli G, Haines JL, Sirugo G, Williams SM
(2013) Circ Cardiovasc Genet 6: 299-307
MeSH Terms: Alleles, Animals, Data Mining, Evolution, Molecular, Genetic Pleiotropy, Genetics, Population, Humans, Introns, Phylogeny, Polymorphism, Single Nucleotide, Primates, Scavenger Receptors, Class E, Selection, Genetic
Added May 30, 2014
0 Communities
1 Members
0 Resources
13 MeSH Terms
Polymorphisms in the Selenoprotein S gene and subclinical cardiovascular disease in the Diabetes Heart Study.
Cox AJ, Lehtinen AB, Xu J, Langefeld CD, Freedman BI, Carr JJ, Bowden DW
(2013) Acta Diabetol 50: 391-9
MeSH Terms: Aged, Cardiovascular Diseases, Carotid Artery Diseases, Carotid Intima-Media Thickness, Diabetes Mellitus, Type 2, Diabetic Angiopathies, Female, Genotype, Humans, Introns, Linkage Disequilibrium, Male, Membrane Proteins, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Selenoproteins, Vascular Calcification
Added February 15, 2014
0 Communities
1 Members
0 Resources
18 MeSH Terms
Variants affecting exon skipping contribute to complex traits.
Lee Y, Gamazon ER, Rebman E, Lee Y, Lee S, Dolan ME, Cox NJ, Lussier YA
(2012) PLoS Genet 8: e1002998
MeSH Terms: Alternative Splicing, Computational Biology, Cyclin-Dependent Kinases, Exons, Genetic Predisposition to Disease, Humans, Introns, Models, Molecular, Phenotype, Polymorphism, Single Nucleotide, Protein Conformation, Proteins, Quantitative Trait Loci, Quantitative Trait, Heritable, RNA Isoforms
Added February 22, 2016
0 Communities
2 Members
0 Resources
15 MeSH Terms
Tailoring of membrane proteins by alternative splicing of pre-mRNA.
Mittendorf KF, Deatherage CL, Ohi MD, Sanders CR
(2012) Biochemistry 51: 5541-56
MeSH Terms: Alternative Splicing, Alzheimer Disease, Animals, Humans, Introns, Membrane Proteins, Organ Specificity, Protein Folding, Protein Sorting Signals, Protein Transport, RNA Precursors, RNA, Messenger
Added March 7, 2014
0 Communities
2 Members
0 Resources
12 MeSH Terms