Browse Items (4 total)
- Tags: Genetic Predisposition to Disease
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
Tags: 2019, Adult, Antonellis Anthony, Baras Aris, Biochemistry & Molecular Biology, Brigatti Karlla W, Carson Vincent J, Catalytic Domain, Child, Demczko Matthew M, Female, Fox Michael D, Furuya Katryn N, gene, Genetic Diseases, Genetic Predisposition to Disease, Genetics & Heredity, Gonzaga-Jauregui Claudia, Griffin Laurie B, Hearing Loss, Heterozygote, Homozygote, Human molecular genetics, Humans, impairment, Inborn, Infant, Jinks Robert N, Kandula Vinay V R, lactic-acidosis, Loss of Function Mutation, Male, Martinez Erick D, mechanisms, Miles Lili, Mutation, myopathy, NEOMED College of Medicine Student, NEOMED Student Publications, Newborn, onset, Overton John D, Pedigree, Phenotype, phenotypic variability, Poskitt Laura, Preschool, Puffenberger Erik G, Radhakrishnan Kadakkal, recessive mutations, Reid Jeffrey G, Sensorineural, September 2019 Update, Severity of Illness Index, Strauss Kevin A, swiss-model, Tyrosine-tRNA Ligase, variant, Wenger Olivia K, Whole Exome Sequencing, Williams Katie B, Yeasts, Yoder Mark A
Congenital anomaly of the inferior vena cava and factor V Leiden mutation predisposing to deep vein thrombosis.
Tags: *Mutation, 2014, Activated Protein C Resistance/*complications/diagnosis/drug therapy/genetics, Anticoagulants – Therapeutic Use, Anticoagulants/therapeutic use, Blood Coagulation Factors, deep vein thrombosis (DVT), Disease Susceptibility, DNA Mutational Analysis, Erickson Cameron R, Factor V/*genetics, Genetic Predisposition to Disease, Hematologic Diseases, Hematologic Diseases – Complications, Hematologic Diseases – Diagnosis, Hematologic Diseases – Drug Therapy, Human, Humans, Inferior – Abnormalities, Inferior – Radiography, Inferior – Ultrasonography, inferior vena cava (IVC), Inferior/*abnormalities/diagnostic imaging, Kulthia Arun, Lamparello Brooke M, lower extremities, Male, Mutation, Phlebography – Methods, Phlebography/methods, Predictive Value of Tests, Risk Factors, Sequence Analysis, Thet Zeyar, thrombophilic, Tomography, Ultrasonography, Vascular Health and Risk Management, Vascular Malformations – Complications, Vascular Malformations – Diagnosis, Vascular Malformations/*complications/diagnosis, Vena Cava, venography, Venous Thrombosis, Venous Thrombosis – Diagnosis, Venous Thrombosis – Drug Therapy, Venous Thrombosis – Etiology, Venous Thrombosis/diagnosis/drug therapy/*etiology/genetics, Virparia Vasudev, X-Ray Computed, Young Adult
The identification of trans-associations between prostate cancer GWAS SNPs and RNA expression differences in tumor-adjacent stroma.
Tags: 2015, Chen Xin, Duggan David, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Jia Zhenyu, Male, McClelland Michael, Mercola Dan, Oncotarget, Polymorphism, Prostatic Neoplasms/*genetics/metabolism, Rahmatpanah Farah B, Risk Factors, RNA/*biosynthesis/genetics, Sawyers Anne, Single Nucleotide, Trent Jeffrey
Tags: 2009, Animals, Bile Acids and Salts/*metabolism, Chiang John Y L, Department of Integrative Medical Sciences, Expert opinion on drug metabolism & toxicology, Gene Expression Regulation, Genetic Predisposition to Disease, Hepatocyte Nuclear Factor 4/genetics/*metabolism, Humans, Lipid Metabolism, Liver/metabolism, Mutation, NEOMED College of Medicine, Pharmaceutical Preparations/*metabolism, Signal Transduction/physiology