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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 2186

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Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males.
Walker EM, Cha J, Tong X, Guo M, Liu JH, Yu S, Iacovazzo D, Mauvais-Jarvis F, Flanagan SE, Korbonits M, Stafford J, Jacobson DA, Stein R
(2021) Cell Rep 37: 109813
MeSH Terms: Animals, Animals, Genetically Modified, Blood Glucose, Calcium Signaling, Cell Line, Cellular Senescence, DNA Damage, Diabetes Mellitus, Type 2, Disease Models, Animal, Female, Genetic Predisposition to Disease, Humans, Insulin, Insulin-Secreting Cells, Maf Transcription Factors, Large, Male, Mice, Inbred C57BL, Mutation, Missense, Phenotype, Sex Characteristics, Sex Factors
Added November 23, 2021
0 Communities
1 Members
0 Resources
21 MeSH Terms
Altered Ocular Fibrillin Microfibril Composition in Mice With a Glaucoma-Causing Mutation of Adamts10.
Wu HJ, Mortlock DP, Kuchtey RW, Kuchtey J
(2021) Invest Ophthalmol Vis Sci 62: 26
MeSH Terms: ADAMTS Proteins, Animals, Anterior Chamber, DNA, DNA Mutational Analysis, Disease Models, Animal, Female, Fibrillins, Glaucoma, Open-Angle, Male, Mice, Microfibrils, Mutation, Signal Transduction
Added August 27, 2021
1 Communities
0 Members
0 Resources
14 MeSH Terms
KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models.
West JD, Austin ED, Rizzi EM, Yan L, Tanjore H, Crabtree AL, Moore CS, Muthian G, Carrier EJ, Jacobson DA, Hamid R, Kendall PL, Majka S, Rathinasabapathy A
(2021) Int J Mol Sci 22:
MeSH Terms: Animals, Biomarkers, Case-Control Studies, Cytokines, Disease Models, Animal, Disease Susceptibility, Gene Expression Profiling, Genetic Predisposition to Disease, Humans, Hypoxia, Immunomodulation, Lymphocytes, Mice, Mice, Knockout, Models, Biological, Monocytes, Mutation, Nerve Tissue Proteins, Potassium Channels, Tandem Pore Domain, Pulmonary Arterial Hypertension, Transcriptome
Added June 14, 2021
0 Communities
1 Members
0 Resources
21 MeSH Terms
Antagonistic epistasis of Hnf4α and FoxO1 metabolic networks through enhancer interactions in β-cell function.
Kuo T, Du W, Miyachi Y, Dadi PK, Jacobson DA, Segrè D, Accili D
(2021) Mol Metab 53: 101256
MeSH Terms: Animals, Epistasis, Genetic, Forkhead Box Protein O1, Hepatocyte Nuclear Factor 4, Insulin-Secreting Cells, Mice, Mice, Knockout, Mutation
Added June 14, 2021
0 Communities
1 Members
0 Resources
8 MeSH Terms
A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.
Graff SM, Johnson SR, Leo PJ, Dadi PK, Dickerson MT, Nakhe AY, McInerney-Leo AM, Marshall M, Zaborska KE, Schaub CM, Brown MA, Jacobson DA, Duncan EL
(2021) JCI Insight 6:
MeSH Terms: Animals, Blood Glucose, Calcium Signaling, Channelopathies, Diabetes Mellitus, Type 2, Gain of Function Mutation, Humans, Insulin Secretion, Insulin-Secreting Cells, Membrane Potentials, Mice, Potassium Channels, Tandem Pore Domain
Added June 14, 2021
0 Communities
1 Members
0 Resources
12 MeSH Terms
Cell-Autonomous Role of EGFR in Spontaneous Duodenal Tumors in LRIG1 Null Mice.
Niitsu H, Lu Y, Huh WJ, Love AM, Franklin JL, Coffey RJ
(2021) Cell Mol Gastroenterol Hepatol 12: 1159-1162.e4
MeSH Terms: Animals, Brunner Glands, Duodenal Neoplasms, ErbB Receptors, Gene Expression Regulation, Neoplastic, Gene Knockout Techniques, Loss of Function Mutation, Membrane Glycoproteins, Mice, Nerve Tissue Proteins, Receptor, ErbB-3
Added July 16, 2021
1 Communities
0 Members
0 Resources
11 MeSH Terms
RNA editing-mediated regulation of calcium-dependent activator protein for secretion (CAPS1) localization and its impact on synaptic transmission.
Shumate KM, Tas ST, Kavalali ET, Emeson RB
(2021) J Neurochem 158: 182-196
MeSH Terms: Adenosine Deaminase, Animals, CRISPR-Cas Systems, Calcium-Binding Proteins, Electrophysiological Phenomena, Glutamic Acid, High-Throughput Nucleotide Sequencing, Hippocampus, Mice, Mutation, Nerve Tissue Proteins, Neuronal Plasticity, Primary Cell Culture, RNA Editing, Synaptic Transmission, gamma-Aminobutyric Acid
Added April 30, 2021
1 Communities
0 Members
0 Resources
16 MeSH Terms
Collagen IV dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases.
Pokidysheva EN, Seeger H, Pedchenko V, Chetyrkin S, Bergmann C, Abrahamson D, Cui ZW, Delpire E, Fervenza FC, Fidler AL, Fogo AB, Gaspert A, Grohmann M, Gross O, Haddad G, Harris RC, Kashtan C, Kitching AR, Lorenzen JM, McAdoo S, Pusey CD, Segelmark M, Simmons A, Voziyan PA, Wagner T, Wüthrich RP, Zhao MH, Boudko SP, Kistler AD, Hudson BG
(2021) J Biol Chem 296: 100590
MeSH Terms: Animals, Anti-Glomerular Basement Membrane Disease, Collagen Type IV, Mice, Models, Molecular, Mutation, Nephritis, Hereditary, Protein Multimerization, Protein Structure, Quaternary, Signal Transduction
Added September 3, 2021
1 Communities
0 Members
0 Resources
MeSH Terms
Elevated mitochondrial DNA copy number found in ubiquinone-deficient clk-1 mutants is not rescued by ubiquinone precursor 2-4-dihydroxybenzoate.
Kirby CS, Patel MR
(2021) Mitochondrion 58: 38-48
MeSH Terms: Alleles, Animals, Caenorhabditis elegans, Caenorhabditis elegans Proteins, DNA Copy Number Variations, DNA, Mitochondrial, Hydroxybenzoates, Mutation, Ubiquinone
Added June 6, 2022
0 Communities
1 Members
0 Resources
MeSH Terms
A GRM7 mutation associated with developmental delay reduces mGlu7 expression and produces neurological phenotypes.
Fisher NM, AlHashim A, Buch AB, Badivuku H, Samman MM, Weiss KM, Cestero GI, Does MD, Rook JM, Lindsley CW, Conn PJ, Gogliotti RG, Niswender CM
(2021) JCI Insight 6:
MeSH Terms: Animals, Autism Spectrum Disorder, Child, Child, Preschool, Epilepsy, Fear, Female, GTP-Binding Proteins, Genetic Predisposition to Disease, Humans, Infant, Learning, Male, Mice, Mice, Inbred C57BL, Mutation, Neurodevelopmental Disorders, Pedigree, Phenotype, Receptors, Metabotropic Glutamate, Seizures
Added January 29, 2021
1 Communities
0 Members
0 Resources
21 MeSH Terms