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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 26

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An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ
(2020) Circulation 141: 429-439
MeSH Terms: Adolescent, Adult, Death, Sudden, Cardiac, Electric Countershock, Electrocardiography, Female, Heart Arrest, Humans, Long QT Syndrome, Male, Middle Aged, Penetrance, Potassium Channels, Voltage-Gated, Registries
Added March 24, 2020
0 Communities
1 Members
0 Resources
14 MeSH Terms
(Na1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.
Kroncke BM, Glazer AM, Smith DK, Blume JD, Roden DM
(2018) Circ Genom Precis Med 11: e002095
MeSH Terms: Animals, Cell Line, Humans, Models, Genetic, Mutation, NAV1.5 Voltage-Gated Sodium Channel, Penetrance, Probability, Statistics, Nonparametric, Uncertainty
Added March 26, 2019
0 Communities
3 Members
0 Resources
10 MeSH Terms
Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians.
Han MR, Zheng W, Cai Q, Gao YT, Zheng Y, Bolla MK, Michailidou K, Dennis J, Wang Q, Dunning AM, Brennan P, Chen ST, Choi JY, Hartman M, Ito H, Lophatananon A, Matsuo K, Miao H, Muir K, Sangrajrang S, Shen CY, Teo SH, Tseng CC, Wu AH, Yip CH, Kang D, Xiang YB, Easton DF, Shu XO, Long J
(2017) Carcinogenesis 38: 511-518
MeSH Terms: Alleles, Asian Continental Ancestry Group, Breast Neoplasms, Chromosome Mapping, Databases, Genetic, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Penetrance, Polymorphism, Single Nucleotide, Population Surveillance, Risk
Added April 21, 2017
0 Communities
3 Members
0 Resources
15 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
Discovery of a potent stapled helix peptide that binds to the 70N domain of replication protein A.
Frank AO, Vangamudi B, Feldkamp MD, Souza-Fagundes EM, Luzwick JW, Cortez D, Olejniczak ET, Waterson AG, Rossanese OW, Chazin WJ, Fesik SW
(2014) J Med Chem 57: 2455-61
MeSH Terms: Alanine, Amino Acid Sequence, Cell Line, Crystallization, Crystallography, X-Ray, DNA, Single-Stranded, Drug Discovery, Electrophoretic Mobility Shift Assay, Fluorescence Polarization, Magnetic Resonance Spectroscopy, Microscopy, Fluorescence, Models, Molecular, Molecular Sequence Data, Penetrance, Peptides, Protein Conformation, Replication Protein A, Structure-Activity Relationship, Tumor Suppressor Protein p53
Added March 11, 2014
0 Communities
4 Members
0 Resources
19 MeSH Terms
LIM domain only-2 (LMO2) induces T-cell leukemia by two distinct pathways.
Smith S, Tripathi R, Goodings C, Cleveland S, Mathias E, Hardaway JA, Elliott N, Yi Y, Chen X, Downing J, Mullighan C, Swing DA, Tessarollo L, Li L, Love P, Jenkins NA, Copeland NG, Thompson MA, Du Y, Davé UP
(2014) PLoS One 9: e85883
MeSH Terms: Adaptor Proteins, Signal Transducing, Animals, Base Sequence, Basic Helix-Loop-Helix Transcription Factors, CD2 Antigens, Carcinogenesis, Cell Line, Tumor, E-Box Elements, Gene Expression Regulation, Leukemic, Homeodomain Proteins, Humans, LIM Domain Proteins, Leukemia, T-Cell, Mice, Mice, Transgenic, Molecular Sequence Data, Neoplasm Proteins, Oncogenes, Penetrance, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Promoter Regions, Genetic, Protein Binding, Proto-Oncogene Proteins, Signal Transduction, Transcription Factors, Transcription, Genetic, Up-Regulation
Added March 5, 2014
0 Communities
2 Members
0 Resources
27 MeSH Terms
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.
Miller AR, Hawkins NA, McCollom CE, Kearney JA
(2014) Genes Brain Behav 13: 163-72
MeSH Terms: Animals, Chromosomes, Epilepsies, Myoclonic, Genes, Modifier, Mice, Mice, Inbred C57BL, NAV1.1 Voltage-Gated Sodium Channel, Penetrance, Quantitative Trait Loci
Added May 27, 2014
1 Communities
1 Members
0 Resources
9 MeSH Terms
A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk.
Blair DR, Lyttle CS, Mortensen JM, Bearden CF, Jensen AB, Khiabanian H, Melamed R, Rabadan R, Bernstam EV, Brunak S, Jensen LJ, Nicolae D, Shah NH, Grossman RL, Cox NJ, White KP, Rzhetsky A
(2013) Cell 155: 70-80
MeSH Terms: Disease, Genetic Predisposition to Disease, Genome-Wide Association Study, Health Records, Personal, Humans, Models, Genetic, Penetrance, Polymorphism, Single Nucleotide
Added February 22, 2016
0 Communities
1 Members
0 Resources
8 MeSH Terms
Heritable forms of pulmonary arterial hypertension.
Austin ED, Loyd JE
(2013) Semin Respir Crit Care Med 34: 568-80
MeSH Terms: Activin Receptors, Type II, Antigens, CD, Bone Morphogenetic Protein Receptors, Type II, Caveolin 1, Endoglin, Familial Primary Pulmonary Hypertension, Female, Gene-Environment Interaction, Genetic Counseling, Genetic Testing, Germ-Line Mutation, Humans, Hypertension, Pulmonary, Male, Nerve Tissue Proteins, Penetrance, Potassium Channels, Tandem Pore Domain, Pregnancy, Preimplantation Diagnosis, Receptors, Cell Surface, Sex Distribution, TGF-beta Superfamily Proteins
Added March 20, 2014
0 Communities
2 Members
0 Resources
22 MeSH Terms
Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance.
Cogan J, Austin E, Hedges L, Womack B, West J, Loyd J, Hamid R
(2012) Circulation 126: 1907-16
MeSH Terms: Adult, Aged, Alternative Splicing, Bone Morphogenetic Protein Receptors, Type II, Familial Primary Pulmonary Hypertension, Female, Humans, Hypertension, Pulmonary, Male, Middle Aged, Penetrance, Protein Isoforms
Added March 27, 2014
0 Communities
3 Members
0 Resources
12 MeSH Terms