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Results: 11 to 20 of 165

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Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers.
Gu M, Shao NY, Sa S, Li D, Termglinchan V, Ameen M, Karakikes I, Sosa G, Grubert F, Lee J, Cao A, Taylor S, Ma Y, Zhao Z, Chappell J, Hamid R, Austin ED, Gold JD, Wu JC, Snyder MP, Rabinovitch M
(2017) Cell Stem Cell 20: 490-504.e5
MeSH Terms: Base Sequence, Bone Morphogenetic Protein 4, Bone Morphogenetic Protein Receptors, Type II, Cell Adhesion, Cell Movement, Cell Shape, Cell Survival, Endothelial Cells, Gene Editing, Gene Expression Regulation, Heterozygote, Humans, Hypertension, Pulmonary, Induced Pluripotent Stem Cells, Mutation, Neovascularization, Physiologic, Phosphorylation, Sequence Analysis, RNA, Signal Transduction, Smad Proteins, p38 Mitogen-Activated Protein Kinases
Added February 21, 2017
0 Communities
1 Members
0 Resources
21 MeSH Terms
Heterozygosity Ratio, a Robust Global Genomic Measure of Autozygosity and Its Association with Height and Disease Risk.
Samuels DC, Wang J, Ye F, He J, Levinson RT, Sheng Q, Zhao S, Capra JA, Shyr Y, Zheng W, Guo Y
(2016) Genetics 204: 893-904
MeSH Terms: Body Height, Gene Frequency, Genetic Predisposition to Disease, Genome, Human, Heterozygote, Humans, Polymorphism, Genetic
Added April 18, 2017
0 Communities
2 Members
0 Resources
7 MeSH Terms
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S, Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomäki K, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Arun BK, Arver B, Bacot F, Barrowdale D, Baynes C, Beeghly-Fadiel A, Benitez J, Bermisheva M, Blomqvist C, Blot WJ, Bogdanova NV, Bojesen SE, Bonanni B, Borresen-Dale AL, Brand JS, Brauch H, Brennan P, Brenner H, Broeks A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldes T, Campbell I, Carpenter J, Chang-Claude J, Choi JY, Claes KB, Clarke C, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, De Leeneer K, Devilee P, Diez O, Domchek SM, Doody M, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Dworniczak B, Egan K, Eilber U, Einbeigi Z, Ejlertsen B, Ellis S, Frost D, Lalloo F, EMBRACE, Fasching PA, Figueroa J, Flyger H, Friedlander M, Friedman E, Gambino G, Gao YT, Garber J, García-Closas M, Gehrig A, Damiola F, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, behalf of GEMO Study Collaborators, Giles GG, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Haiman CA, Hallberg E, Hamann U, Hansen TV, Hart S, Hartikainen JM, Hartman M, Hassan N, Healey S, Hogervorst FB, Verhoef S, HEBON, Hendricks CB, Hillemanns P, Hollestelle A, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Joly Beauparlant C, Jones M, Kabisch M, Kang D, Karlan BY, Kauppila S, Kerin MJ, Khan S, Khusnutdinova E, Knight JA, Konstantopoulou I, Kraft P, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Le Marchand L, Lee CN, Lee MH, Lester J, Li J, Liljegren A, Lindblom A, Lophatananon A, Lubinski J, Mai PL, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McGuffog L, Meindl A, Menegaux F, Montagna M, Muir K, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Newcomb PA, Nord S, Nussbaum RL, Offit K, Olah E, Olopade OI, Olswold C, Osorio A, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Peeters S, Peissel B, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Presneau N, Radice P, Rahman N, Ramus SJ, Rashid MU, Rennert G, Rhiem K, Rudolph A, Salani R, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schürmann P, Seynaeve C, Shen CY, Shrubsole MJ, Shu XO, Sigurdson A, Singer CF, Slager S, Soucy P, Southey M, Steinemann D, Swerdlow A, Szabo CI, Tchatchou S, Teixeira MR, Teo SH, Terry MB, Tessier DC, Teulé A, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Tung N, Turnbull C, van den Ouweland AM, van Rensburg EJ, Ven den Berg D, Vijai J, Wang-Gohrke S, Weitzel JN, Whittemore AS, Winqvist R, Wong TY, Wu AH, Yannoukakos D, Yu JC, Pharoah PD, Hall P, Chenevix-Trench G, KConFab, AOCS Investigators, Dunning AM, Simard J, Couch FJ, Antoniou AC, Easton DF, Zheng W
(2016) Breast Cancer Res 18: 64
MeSH Terms: Alleles, BRCA1 Protein, Breast Neoplasms, Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 12, Computational Biology, Databases, Genetic, Enhancer Elements, Genetic, Epigenesis, Genetic, European Continental Ancestry Group, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Haplotypes, Heterozygote, Humans, Mutation, Odds Ratio, Polymorphism, Single Nucleotide, Population Surveillance, Promoter Regions, Genetic, Quantitative Trait Loci, Risk
Added April 18, 2017
0 Communities
3 Members
0 Resources
25 MeSH Terms
Threshold-Dependent Cooperativity of Pdx1 and Oc1 in Pancreatic Progenitors Establishes Competency for Endocrine Differentiation and β-Cell Function.
Henley KD, Stanescu DE, Kropp PA, Wright CVE, Won KJ, Stoffers DA, Gannon M
(2016) Cell Rep 15: 2637-2650
MeSH Terms: Animals, Basic Helix-Loop-Helix Transcription Factors, Cell Count, Cell Differentiation, Embryo, Mammalian, Gene Dosage, Gene Expression Regulation, Developmental, Gene Ontology, Gene Regulatory Networks, Glucose, Hepatocyte Nuclear Factor 6, Heterozygote, Homeodomain Proteins, Homeostasis, Insulin-Secreting Cells, Mice, Multigene Family, Nerve Tissue Proteins, Stem Cells, Trans-Activators, Weaning
Added July 5, 2016
1 Communities
2 Members
0 Resources
21 MeSH Terms
RAD51B in Familial Breast Cancer.
Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Dörk T, Bogdanova NV, Figueroa J, Pharoah PD, Schmidt MK, Dunning AM, García-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, González-Neira A, Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G, kConFab/AOCS Investigators, Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collée M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomäki K, Nevanlinna H
(2016) PLoS One 11: e0153788
MeSH Terms: Breast Neoplasms, DNA-Binding Proteins, Female, Finland, Genetic Predisposition to Disease, Genotyping Techniques, Haplotypes, Heterozygote, Humans, Male, Middle Aged, Mutation, Missense, Polymorphism, Single Nucleotide
Added April 18, 2017
0 Communities
1 Members
0 Resources
13 MeSH Terms
Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.
deGoma EM, Ahmad ZS, O'Brien EC, Kindt I, Shrader P, Newman CB, Pokharel Y, Baum SJ, Hemphill LC, Hudgins LC, Ahmed CD, Gidding SS, Duffy D, Neal W, Wilemon K, Roe MT, Rader DJ, Ballantyne CM, Linton MF, Duell PB, Shapiro MD, Moriarty PM, Knowles JW
(2016) Circ Cardiovasc Genet 9: 240-9
MeSH Terms: Adult, Aged, Biomarkers, Chi-Square Distribution, Cholesterol, LDL, Comorbidity, Coronary Disease, Cross-Sectional Studies, Diabetes Mellitus, Down-Regulation, Early Diagnosis, Female, Genetic Predisposition to Disease, Guideline Adherence, Heterozygote, Humans, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Hyperlipoproteinemia Type II, Hypertension, Logistic Models, Male, Middle Aged, Multivariate Analysis, Odds Ratio, Phenotype, Practice Guidelines as Topic, Practice Patterns, Physicians', Predictive Value of Tests, Prevalence, Professional Practice Gaps, Registries, Risk Factors, Time Factors, Treatment Outcome, United States
Added April 10, 2018
0 Communities
1 Members
0 Resources
MeSH Terms
Prox1-Heterozygosis Sensitizes the Pancreas to Oncogenic Kras-Induced Neoplastic Transformation.
Drosos Y, Neale G, Ye J, Paul L, Kuliyev E, Maitra A, Means AL, Washington MK, Rehg J, Finkelstein DB, Sosa-Pineda B
(2016) Neoplasia 18: 172-84
MeSH Terms: Acinar Cells, Animals, Cell Transformation, Neoplastic, Ceruletide, Heterozygote, Homeodomain Proteins, Humans, Inflammation, Metaplasia, Mice, Pancreas, Pancreatic Neoplasms, Proto-Oncogene Proteins p21(ras), Tumor Suppressor Proteins
Added April 11, 2016
0 Communities
2 Members
0 Resources
14 MeSH Terms
APOE ε4 associated with preserved executive function performance and maintenance of temporal and cingulate brain volumes in younger adults.
Taylor WD, Boyd B, Turner R, McQuoid DR, Ashley-Koch A, MacFall JR, Saleh A, Potter GG
(2017) Brain Imaging Behav 11: 194-204
MeSH Terms: Adult, Aging, Apolipoprotein E4, Depression, Executive Function, Female, Gyrus Cinguli, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neuropsychological Tests, Organ Size, Temporal Lobe, Young Adult
Added February 22, 2016
0 Communities
2 Members
0 Resources
16 MeSH Terms
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, Chisholm RL, Kitchner TE, He MM, Brilliant MH, Wallace JR, Doheny KF, Shoemaker MB, Li R, Manolio TA, Callis TE, Macaya D, Williams MS, Carey D, Kapplinger JD, Ackerman MJ, Ritchie MD, Denny JC, Roden DM
(2016) JAMA 315: 47-57
MeSH Terms: Aged, Aged, 80 and over, Alleles, Arrhythmias, Cardiac, Brugada Syndrome, ERG1 Potassium Channel, Electronic Health Records, Ether-A-Go-Go Potassium Channels, Female, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Genomics, Heterozygote, Humans, Incidental Findings, Laboratories, Male, Middle Aged, Mutation, Missense, NAV1.5 Voltage-Gated Sodium Channel, Phenotype, Prospective Studies, Random Allocation, Statistics, Nonparametric, Young Adult
Added April 6, 2017
0 Communities
4 Members
0 Resources
26 MeSH Terms
CYP2C19 and CES1 polymorphisms and efficacy of clopidogrel and aspirin dual antiplatelet therapy in patients with symptomatic intracranial atherosclerotic disease.
Hoh BL, Gong Y, McDonough CW, Waters MF, Royster AJ, Sheehan TO, Burkley B, Langaee TY, Mocco J, Zuckerman SL, Mummareddy N, Stephens ML, Ingram C, Shaffer CM, Denny JC, Brilliant MH, Kitchner TE, Linneman JG, Roden DM, Johnson JA
(2016) J Neurosurg 124: 1746-51
MeSH Terms: Aged, Aspirin, Carboxylic Ester Hydrolases, Clopidogrel, Cytochrome P-450 CYP2C19, Female, Gene Frequency, Genotyping Techniques, Heterozygote, Humans, Intracranial Arteriosclerosis, Ischemic Attack, Transient, Kaplan-Meier Estimate, Male, Myocardial Infarction, Platelet Aggregation Inhibitors, Polymorphism, Single Nucleotide, Prospective Studies, Stroke, Ticlopidine
Added March 14, 2018
0 Communities
2 Members
0 Resources
20 MeSH Terms