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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 53

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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP
(2017) Invest Ophthalmol Vis Sci 58: 2774-2784
MeSH Terms: Adult, Aged, Arrestin, DNA Mutational Analysis, Exons, Female, Genes, Dominant, High-Throughput Nucleotide Sequencing, Hispanic Americans, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Retina, Retinitis Pigmentosa, Southwestern United States
Added March 14, 2018
0 Communities
1 Members
0 Resources
17 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
Neurotoxic unc-8 mutants encode constitutively active DEG/ENaC channels that are blocked by divalent cations.
Wang Y, Matthewman C, Han L, Miller T, Miller DM, Bianchi L
(2013) J Gen Physiol 142: 157-69
MeSH Terms: Action Potentials, Animals, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Calcium, Cell Death, Cholinergic Neurons, Genes, Dominant, Ion Channels, Magnesium, Membrane Proteins, Motor Neurons, Mutation, Xenopus
Added February 3, 2014
0 Communities
1 Members
0 Resources
14 MeSH Terms
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP
(2012) Nature 482: 98-102
MeSH Terms: Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Animals, Base Sequence, Blood Pressure, Carrier Proteins, Cohort Studies, Cullin Proteins, Electrolytes, Exons, Female, Gene Expression Profiling, Genes, Dominant, Genes, Recessive, Genotype, Homeostasis, Humans, Hydrogen-Ion Concentration, Hypertension, Male, Mice, Microfilament Proteins, Models, Molecular, Molecular Sequence Data, Mutation, Phenotype, Potassium, Pseudohypoaldosteronism, Sodium Chloride, Water-Electrolyte Imbalance
Added February 25, 2014
0 Communities
1 Members
0 Resources
30 MeSH Terms
Attenuation of the beta-catenin/TCF4 complex in colorectal cancer cells induces several growth-suppressive microRNAs that target cancer promoting genes.
Schepeler T, Holm A, Halvey P, Nordentoft I, Lamy P, Riising EM, Christensen LL, Thorsen K, Liebler DC, Helin K, Ørntoft TF, Andersen CL
(2012) Oncogene 31: 2750-60
MeSH Terms: Aged, Aged, 80 and over, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Cell Line, Tumor, Cell Proliferation, Chromatography, Liquid, Colon, Colorectal Neoplasms, Female, Gene Expression Profiling, Genes, Dominant, Humans, Luciferases, Male, MicroRNAs, Middle Aged, Oligonucleotide Array Sequence Analysis, Oncogenes, RNA, Messenger, RNA, Small Interfering, Rectum, Reverse Transcriptase Polymerase Chain Reaction, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Transcription Factor 4, Transcription Factors, Transcriptome, Tumor Cells, Cultured, Wnt Signaling Pathway, beta Catenin
Added March 20, 2014
0 Communities
1 Members
0 Resources
29 MeSH Terms
Pharmacologic correction of dominant-negative GH1 deficiency causing mutations.
Poling JS, Phillips JA, Cogan JD, Hamid R
(2011) Clin Transl Sci 4: 175-9
MeSH Terms: Cell Line, Dexamethasone, Digoxin, Family Health, Genes, Dominant, Growth Hormone, Humans, Leukocytes, Mononuclear, Mutation, Phenotype, Pituitary Diseases, RNA, Messenger, Reverse Transcriptase Polymerase Chain Reaction, Sodium Oxybate, Tubercidin
Added March 27, 2014
0 Communities
1 Members
0 Resources
15 MeSH Terms
Cell-type specific expression of a dominant negative PKA mutation in mice.
Willis BS, Niswender CM, Su T, Amieux PS, McKnight GS
(2011) PLoS One 6: e18772
MeSH Terms: Alleles, Animals, Cyclic AMP Response Element-Binding Protein, Cyclic AMP-Dependent Protein Kinases, Embryonic Stem Cells, Genes, Dominant, Glucose, Integrases, Mice, Mutation, Polymerase Chain Reaction
Added March 3, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Cooperative signaling between Slit2 and Ephrin-A1 regulates a balance between angiogenesis and angiostasis.
Dunaway CM, Hwang Y, Lindsley CW, Cook RS, Wu JY, Boothby M, Chen J, Brantley-Sieders DM
(2011) Mol Cell Biol 31: 404-16
MeSH Terms: Animals, Carrier Proteins, Cattle, Cell Movement, Endothelial Cells, Enzyme Activation, Ephrin-A1, Genes, Dominant, HEK293 Cells, Humans, Intercellular Signaling Peptides and Proteins, Mice, Neovascularization, Physiologic, Nerve Tissue Proteins, Proto-Oncogene Proteins c-akt, Rapamycin-Insensitive Companion of mTOR Protein, Signal Transduction, Subcutaneous Tissue, Trans-Activators, Transcription Factors, rac GTP-Binding Proteins
Added December 10, 2013
2 Communities
3 Members
0 Resources
21 MeSH Terms
Transforming growth factor-beta-stimulated endocardial cell transformation is dependent on Par6c regulation of RhoA.
Townsend TA, Wrana JL, Davis GE, Barnett JV
(2008) J Biol Chem 283: 13834-41
MeSH Terms: Animals, Chick Embryo, Collagen, Endocardium, Gene Expression Regulation, Developmental, Genes, Dominant, Heart Ventricles, Ligands, Mesoderm, Models, Biological, RNA, Small Interfering, Transforming Growth Factor beta, Ubiquitin-Protein Ligases, cdc42 GTP-Binding Protein, rhoA GTP-Binding Protein
Added February 21, 2016
0 Communities
1 Members
0 Resources
15 MeSH Terms
Analysis of human cell heterokaryons demonstrates that target cell restriction of cyclosporine-resistant human immunodeficiency virus type 1 mutants is genetically dominant.
Song C, Aiken C
(2007) J Virol 81: 11946-56
MeSH Terms: Anti-HIV Agents, Cell Nucleus, Cyclosporine, Cytoplasm, Drug Resistance, Flow Cytometry, Genes, Dominant, HIV-1, HeLa Cells, Humans, Mutation, Plasmids, Virion, Virus Replication
Added February 19, 2015
0 Communities
1 Members
0 Resources
14 MeSH Terms