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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 960

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Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.
Flores B, Delpire E
(2021) Am J Physiol Cell Physiol 320: C722-C730
MeSH Terms: Age Factors, Agenesis of Corpus Callosum, Animals, Behavior, Animal, Disease Models, Animal, Female, Ganglia, Spinal, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Genetic Therapy, Male, Mice, Inbred C57BL, Mice, Knockout, Motor Activity, Parvalbumins, Peripheral Nervous System Diseases, Phenotype, Postural Balance, Rotarod Performance Test, Symporters
Added February 26, 2021
1 Communities
0 Members
0 Resources
20 MeSH Terms
Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis.
Zhong X, Yin Z, Jia G, Zhou D, Wei Q, Faucon A, Evans P, Gamazon ER, Li B, Tao R, Rzhetsky A, Bastarache L, Cox NJ
(2020) Genet Med 22: 1191-1200
MeSH Terms: Adult, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Electronic Health Records, Humans, Mutation, Phenotype
Added April 18, 2020
0 Communities
1 Members
0 Resources
7 MeSH Terms
Personalized Medicine in Chronic Rhinosinusitis: Phenotypes, Endotypes, and Biomarkers.
Bauer AM, Turner JH
(2020) Immunol Allergy Clin North Am 40: 281-293
MeSH Terms: Algorithms, Biomarkers, Chronic Disease, Cytokines, Humans, Nasal Polyps, Phenotype, Precision Medicine, Rhinitis, Sinusitis
Added July 23, 2020
0 Communities
1 Members
0 Resources
10 MeSH Terms
New genetic predictors for abacavir tolerance in HLA-B*57:01 positive individuals.
Pavlos R, Deshpande P, Chopra A, Leary S, Strautins K, Nolan D, Thorborn D, Shaefer M, Rauch A, Dunn D, Montaner J, Rachlis A, Almeida CA, Choo L, James I, Redwood AJ, Li Y, Gaudieri S, Mallal SA, Phillips EJ
(2020) Hum Immunol 81: 300-304
MeSH Terms: Allergens, Aminopeptidases, Anti-HIV Agents, Dideoxynucleosides, Drug Hypersensitivity Syndrome, Drug-Related Side Effects and Adverse Reactions, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, HIV Infections, HIV-1, HLA-B Antigens, Humans, Lipopolysaccharide Receptors, Male, Minor Histocompatibility Antigens, Phenotype, Retrospective Studies
Added March 30, 2020
0 Communities
1 Members
0 Resources
19 MeSH Terms
Maternal microbial molecules affect offspring health.
Ferguson J
(2020) Science 367: 978-979
MeSH Terms: Animals, Child, Child Health, Diet, High-Fat, Female, Gastrointestinal Microbiome, Mice, Obesity, Phenotype, Pregnancy
Added March 3, 2020
0 Communities
1 Members
0 Resources
10 MeSH Terms
Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease.
Mosley JD, Gupta DK, Tan J, Yao J, Wells QS, Shaffer CM, Kundu S, Robinson-Cohen C, Psaty BM, Rich SS, Post WS, Guo X, Rotter JI, Roden DM, Gerszten RE, Wang TJ
(2020) JAMA 323: 627-635
MeSH Terms: Aged, Cohort Studies, Coronary Disease, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Incidence, Male, Middle Aged, Multifactorial Inheritance, Myocardial Infarction, Odds Ratio, Phenotype, Polymorphism, Single Nucleotide, Predictive Value of Tests, Proportional Hazards Models, Retrospective Studies, Risk, Risk Assessment
Added March 24, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
Unlu G, Qi X, Gamazon ER, Melville DB, Patel N, Rushing AR, Hashem M, Al-Faifi A, Chen R, Li B, Cox NJ, Alkuraya FS, Knapik EW
(2020) Nat Med 26: 98-109
MeSH Terms: Abnormalities, Multiple, Animals, Behavior, Animal, Biological Specimen Banks, Chondrocytes, Disease Models, Animal, Extracellular Matrix, Fibroblasts, Guanine Nucleotide Exchange Factors, Humans, Models, Biological, Musculoskeletal System, Osteogenesis, Phenomics, Phenotype, Procollagen, Protein Transport, Secretory Pathway, Syndrome, Zebrafish, Zebrafish Proteins
Added January 15, 2020
0 Communities
1 Members
0 Resources
21 MeSH Terms
Analysis of Skin-Resident Memory T Cells Following Drug Hypersensitivity Reactions.
Trubiano JA, Gordon CL, Castellucci C, Christo SN, Park SL, Mouhtouris E, Konvinse K, Rose M, Goh M, Boyd AS, Phillips EJ, Mackay LK
(2020) J Invest Dermatol 140: 1442-1445.e4
MeSH Terms: Adult, Aged, Anti-Bacterial Agents, Autoimmunity, Biopsy, Drug Eruptions, Drug Hypersensitivity, Female, Humans, Immunologic Memory, Male, Middle Aged, Phenotype, Prospective Studies, Skin, T-Lymphocytes
Added March 30, 2020
0 Communities
1 Members
0 Resources
16 MeSH Terms
Linking 24-h urines to clinical phenotypes: what alternatives does the future bring?
Sui W, Hsi RS
(2020) Curr Opin Urol 30: 177-182
MeSH Terms: Biomarkers, Computational Biology, Humans, Nephrolithiasis, Phenotype, Risk Assessment, Urinalysis
Added July 2, 2021
0 Communities
1 Members
0 Resources
MeSH Terms
Post-GWAS analysis of six substance use traits improves the identification and functional interpretation of genetic risk loci.
Marees AT, Gamazon ER, Gerring Z, Vorspan F, Fingal J, van den Brink W, Smit DJA, Verweij KJH, Kranzler HR, Sherva R, Farrer L, International Cannabis Consortium, Gelernter J, Derks EM
(2020) Drug Alcohol Depend 206: 107703
MeSH Terms: Blood, Brain, Drug Users, Gene Expression Profiling, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Meta-Analysis as Topic, Phenotype, Quantitative Trait Loci, Substance-Related Disorders, Transcriptome
Added December 5, 2019
0 Communities
1 Members
0 Resources
12 MeSH Terms