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Results: 1 to 10 of 140

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Point mutations in the PDX1 transactivation domain impair human β-cell development and function.
Wang X, Sterr M, Ansarullah , Burtscher I, Böttcher A, Beckenbauer J, Siehler J, Meitinger T, Häring HU, Staiger H, Cernilogar FM, Schotta G, Irmler M, Beckers J, Wright CVE, Bakhti M, Lickert H
(2019) Mol Metab 24: 80-97
MeSH Terms: Adult, Carboxylic Ester Hydrolases, Cell Differentiation, Cell Line, Diabetes Mellitus, Female, Homeodomain Proteins, Humans, Insulin Secretion, Insulin-Secreting Cells, Loss of Function Mutation, Male, Point Mutation, Protein Domains, RNA, Long Noncoding, Trans-Activators, Transcription Factors
Added April 2, 2019
0 Communities
1 Members
0 Resources
17 MeSH Terms
Critical role of the finger loop in arrestin binding to the receptors.
Zheng C, Tholen J, Gurevich VV
(2019) PLoS One 14: e0213792
MeSH Terms: Amino Acid Sequence, Arrestins, HEK293 Cells, Humans, Point Mutation, Protein Conformation, Receptor, Muscarinic M2, Receptors, Adrenergic, beta-2, Receptors, Dopamine D1, Receptors, Dopamine D2, Sequence Homology
Added March 18, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Antibody Determinants of Influenza Immunity.
Crowe JE
(2019) J Infect Dis 219: S21-S29
MeSH Terms: Antibodies, Monoclonal, Antibodies, Neutralizing, Antibodies, Viral, Antigens, Viral, B-Lymphocytes, Cross Reactions, Genetic Drift, Hemagglutinin Glycoproteins, Influenza Virus, Humans, Immunologic Memory, Influenza A virus, Influenza Vaccines, Influenza, Human, Neuraminidase, Point Mutation, Vaccination, Vaccines, Inactivated
Added March 31, 2019
0 Communities
1 Members
0 Resources
17 MeSH Terms
Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.
Shi CH, Rubel C, Soss SE, Sanchez-Hodge R, Zhang S, Madrigal SC, Ravi S, McDonough H, Page RC, Chazin WJ, Patterson C, Mao CY, Willis MS, Luo HY, Li YS, Stevens DA, Tang MB, Du P, Wang YH, Hu ZW, Xu YM, Schisler JC
(2018) PLoS Genet 14: e1007664
MeSH Terms: Animals, Behavior, Animal, CRISPR-Cas Systems, Cognition, Disease Models, Animal, Female, Humans, Male, Mice, Mice, Inbred C57BL, Models, Molecular, Motor Activity, Mutagenesis, Site-Directed, Phenotype, Point Mutation, Protein Domains, Protein Multimerization, Rats, Rats, Sprague-Dawley, Spinocerebellar Ataxias, Ubiquitin-Protein Ligases
Added March 26, 2019
0 Communities
1 Members
0 Resources
MeSH Terms
Mutational landscape of EGFR-, MYC-, and Kras-driven genetically engineered mouse models of lung adenocarcinoma.
McFadden DG, Politi K, Bhutkar A, Chen FK, Song X, Pirun M, Santiago PM, Kim-Kiselak C, Platt JT, Lee E, Hodges E, Rosebrock AP, Bronson RT, Socci ND, Hannon GJ, Jacks T, Varmus H
(2016) Proc Natl Acad Sci U S A 113: E6409-E6417
MeSH Terms: Adenocarcinoma, Adenocarcinoma of Lung, Animals, Carcinogens, Cell Transformation, Neoplastic, DNA Copy Number Variations, DNA Mutational Analysis, Disease Models, Animal, ErbB Receptors, Gene Dosage, Genes, myc, Genes, ras, Genome-Wide Association Study, Lung Neoplasms, Mice, Mice, Transgenic, Mutation, Point Mutation, Proto-Oncogene Mas, ROC Curve, Whole Exome Sequencing
Added April 26, 2017
0 Communities
1 Members
0 Resources
21 MeSH Terms
Documentation of an Imperative To Improve Methods for Predicting Membrane Protein Stability.
Kroncke BM, Duran AM, Mendenhall JL, Meiler J, Blume JD, Sanders CR
(2016) Biochemistry 55: 5002-9
MeSH Terms: Membrane Proteins, Point Mutation, Protein Stability, Thermodynamics
Added April 7, 2017
1 Communities
4 Members
0 Resources
4 MeSH Terms
Erythropoietin Slows Photoreceptor Cell Death in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa.
Rex TS, Kasmala L, Bond WS, de Lucas Cerrillo AM, Wynn K, Lewin AS
(2016) PLoS One 11: e0157411
MeSH Terms: Animals, Cell Death, Dependovirus, Disease Models, Animal, Erythropoietin, Gene Transfer Techniques, Genetic Therapy, Humans, Mice, Opsins, Point Mutation, Retinal Cone Photoreceptor Cells, Retinitis Pigmentosa, Vision, Ocular
Added April 2, 2019
0 Communities
1 Members
0 Resources
MeSH Terms
Comparative analysis of the GNAQ, GNA11, SF3B1, and EIF1AX driver mutations in melanoma and across the cancer spectrum.
Johnson DB, Roszik J, Shoushtari AN, Eroglu Z, Balko JM, Higham C, Puzanov I, Patel SP, Sosman JA, Woodman SE
(2016) Pigment Cell Melanoma Res 29: 470-3
MeSH Terms: Eukaryotic Initiation Factor-1, GTP-Binding Protein alpha Subunits, GTP-Binding Protein alpha Subunits, Gq-G11, Genes, Neoplasm, Humans, Immunotherapy, Melanoma, Mutation, Mutation, Missense, Neoplasms, Phosphoproteins, Point Mutation, Prognosis, RNA Splicing Factors
Added April 6, 2017
0 Communities
1 Members
0 Resources
14 MeSH Terms
An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms.
Aditi , Glass L, Dawson TR, Wente SR
(2016) Adv Biol Regul 62: 25-36
MeSH Terms: Amyotrophic Lateral Sclerosis, Animals, Cytoplasm, Cytoplasmic Granules, Gene Expression, HeLa Cells, Humans, Mutagenesis, Insertional, Nuclear Envelope, Nucleocytoplasmic Transport Proteins, Phytic Acid, Point Mutation, Protein Aggregates, Protein Isoforms, RNA, Small Interfering
Added February 15, 2016
0 Communities
1 Members
0 Resources
15 MeSH Terms
Molecular Basis for the Interaction Between AP4 β4 and its Accessory Protein, Tepsin.
Frazier MN, Davies AK, Voehler M, Kendall AK, Borner GH, Chazin WJ, Robinson MS, Jackson LP
(2016) Traffic 17: 400-15
MeSH Terms: Adaptor Protein Complex 4, Binding Sites, HEK293 Cells, HeLa Cells, Humans, Point Mutation, Protein Binding
Added March 11, 2020
0 Communities
1 Members
0 Resources
MeSH Terms