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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 15

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Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA
(2015) Hum Mol Genet 24: 1363-73
MeSH Terms: Amyotrophic Lateral Sclerosis, Animals, Arthrogryposis, Codon, Nonsense, DNA-Binding Proteins, Disease Models, Animal, Haploinsufficiency, HeLa Cells, Humans, Microscopy, Confocal, Motor Neurons, Mutation, Missense, Nuclear Pore, Nucleocytoplasmic Transport Proteins, Pedigree, Protein Processing, Post-Translational, RNA Splicing, RNA, Messenger, Zebrafish
Added February 19, 2015
0 Communities
1 Members
0 Resources
19 MeSH Terms
Whole-exome sequencing in familial atrial fibrillation.
Weeke P, Muhammad R, Delaney JT, Shaffer C, Mosley JD, Blair M, Short L, Stubblefield T, Roden DM, Darbar D, National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project
(2014) Eur Heart J 35: 2477-83
MeSH Terms: Adolescent, Adult, Aged, Atrial Fibrillation, Codon, Nonsense, Exome, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, RNA Splice Sites, Registries, Sequence Analysis, DNA, Young Adult
Added June 26, 2014
0 Communities
2 Members
0 Resources
19 MeSH Terms
Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Kang JQ, Shen W, Macdonald RL
(2013) Ann Neurol 74: 547-59
MeSH Terms: Animals, Cell Line, Transformed, Codon, Nonsense, Disease Models, Animal, Endoplasmic Reticulum, Epilepsy, Gene Expression Regulation, Genotype, Glycosylation, Humans, Mice, Mice, Transgenic, Models, Molecular, Mutagenesis, Phenotype, Protein Subunits, Protein Transport, Receptors, GABA-A, Transcription Factor CHOP, Transfection, Ubiquitin
Added January 24, 2015
0 Communities
1 Members
0 Resources
21 MeSH Terms
mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL, Kang JQ
(2012) Epilepsia 53 Suppl 9: 59-70
MeSH Terms: Animals, Channelopathies, Codon, Nonsense, Endoplasmic Reticulum, Epilepsy, Epilepsy, Generalized, Frameshift Mutation, Humans, Ion Channels, Mutation, Proteostasis Deficiencies, RNA Splicing, RNA, Messenger, Receptors, GABA-A
Added January 24, 2015
0 Communities
1 Members
0 Resources
14 MeSH Terms
The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.
Huang X, Tian M, Hernandez CC, Hu N, Macdonald RL
(2012) Neurobiol Dis 48: 115-23
MeSH Terms: Aminoglycosides, Codon, Nonsense, Codon, Terminator, Epilepsies, Myoclonic, HEK293 Cells, Humans, Nonsense Mediated mRNA Decay, Protein Subunits, Receptors, GABA-A
Added January 24, 2015
0 Communities
1 Members
0 Resources
9 MeSH Terms
The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.
Tian M, Macdonald RL
(2012) J Neurosci 32: 5937-52
MeSH Terms: Analysis of Variance, Animals, Brain, Cell Line, Transformed, Cells, Cultured, Cerebral Cortex, Chromosomes, Artificial, Bacterial, Codon, Nonsense, Embryo, Mammalian, Flow Cytometry, Gene Expression Regulation, Humans, Immunoprecipitation, Introns, Membrane Potentials, Mice, Mice, Inbred C57BL, Mice, Transgenic, Microscopy, Confocal, Models, Molecular, Mutation, Neurons, Nonsense Mediated mRNA Decay, Patch-Clamp Techniques, Protein Subunits, Protein Transport, RNA Splicing, RNA, Messenger, RNA, Small Interfering, Rats, Rats, Sprague-Dawley, Receptors, GABA-A, Transfection, gamma-Aminobutyric Acid
Added December 5, 2013
2 Communities
1 Members
0 Resources
34 MeSH Terms
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.
Wang NJ, Sanborn Z, Arnett KL, Bayston LJ, Liao W, Proby CM, Leigh IM, Collisson EA, Gordon PB, Jakkula L, Pennypacker S, Zou Y, Sharma M, North JP, Vemula SS, Mauro TM, Neuhaus IM, Leboit PE, Hur JS, Park K, Huh N, Kwok PY, Arron ST, Massion PP, Bale AE, Haussler D, Cleaver JE, Gray JW, Spellman PT, South AP, Aster JC, Blacklow SC, Cho RJ
(2011) Proc Natl Acad Sci U S A 108: 17761-6
MeSH Terms: Base Sequence, Carcinoma, Squamous Cell, Cell Communication, Codon, Nonsense, Electrophoretic Mobility Shift Assay, Humans, Lod Score, Lung Neoplasms, Molecular Sequence Data, Receptor, Notch1, Receptor, Notch2, Sequence Analysis, DNA, Signal Transduction, Skin Neoplasms
Added March 10, 2014
0 Communities
1 Members
0 Resources
14 MeSH Terms
Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin.
Kim SH, Speirs CK, Solnica-Krezel L, Ess KC
(2011) Dis Model Mech 4: 255-67
MeSH Terms: Animals, Brain, Cell Size, Codon, Nonsense, Disease Models, Animal, Embryo, Nonmammalian, Gene Expression Regulation, Developmental, Hepatocytes, Humans, Liver, Mutant Proteins, Neurons, Sirolimus, Transcription Factors, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins, Zebrafish
Added September 24, 2013
0 Communities
2 Members
0 Resources
18 MeSH Terms
Topoisomerase IIalpha binding domains of adenomatous polyposis coli influence cell cycle progression and aneuploidy.
Wang Y, Coffey RJ, Osheroff N, Neufeld KL
(2010) PLoS One 5: e9994
MeSH Terms: Adenomatous Polyposis Coli, Adenomatous Polyposis Coli Protein, Aneuploidy, Antigens, Neoplasm, Binding Sites, Cell Cycle, Cell Line, Tumor, Codon, Nonsense, DNA Topoisomerases, Type II, DNA-Binding Proteins, Epithelial Cells, G2 Phase, Humans, Repetitive Sequences, Nucleic Acid, beta Catenin
Added August 12, 2010
1 Communities
1 Members
0 Resources
15 MeSH Terms
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.
Hamid R, Hedges LK, Austin E, Phillips JA, Loyd JE, Cogan JD
(2010) Clin Genet 77: 280-6
MeSH Terms: Aminoglycosides, Bone Morphogenetic Protein Receptors, Type II, Codon, Nonsense, Female, Humans, Hypertension, Pulmonary, Lymphocytes, Male, Mutation, Pedigree
Added March 5, 2014
0 Communities
3 Members
0 Resources
10 MeSH Terms