Browse Items (17 total)
- Tags: Mutation
Tags: 2019, Achondroplasia, Apoptosis, Arthritis, biomechanics, Bone (axial), Bone dysplasia, Bones, Cartilage, Cartilage (articular), Cartilage oligomeric matrix protein, Chondrocytes, Chromosome 19, Chromosomes, Dwarfism, Dysplasia, Elbow, Elbow (anatomy), Epiphysis, Evanston, Extremities, Feet, Gait, Guirguis James, Hand (anatomy), Hip, Intelligence, Joint diseases, Knee (anatomy), Kyphosis, Medical Sciences--Pediatrics, Mutation, NEOMED College of Medicine, NEOMED College of Medicine Student, NEOMED Student Publications, October 2019 Update, Orthopedics, Pediatrics, Plates (structural members), Proteins, Radiographs, Radiography, Skeleton, Thorax, Vertebra, Vertebrae, Weiner Dennis S
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
HNF4 and COUP-TFII interact to modulate transcription of the cholesterol 7alpha-hydroxylase gene (CYP7A1).
Tags: *Receptors, *Transcription, 2000, Animals, Base Sequence, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Chiang J Y, Cholesterol 7-alpha-Hydroxylase/*genetics, COUP Transcription Factor II, COUP Transcription Factors, Cultured, Department of Integrative Medical Sciences, DNA Primers, DNA-Binding Proteins/*metabolism, Genes, Genetic, Hepatocyte Nuclear Factor 4, Humans, Journal of lipid research, Liver/metabolism, Luciferases/genetics, Mutation, NEOMED College of Medicine, Phosphoproteins/*metabolism, Promoter Regions, Rats, Recombinant Proteins/metabolism, Reporter, Sprague-Dawley, Steroid, Stroup D, Transcription Factors/*metabolism, Tumor Cells
Regulation of human sterol 27-hydroxylase gene (CYP27A1) by bile acids and hepatocyte nuclear factor 4alpha (HNF4alpha).
Tags: *DNA-Binding Proteins, 2003, Base Sequence, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Bile Acids and Salts/*pharmacology, Binding Sites/genetics, Cell Line, Chen Wenling, Chenodeoxycholic Acid/pharmacology, Chiang John Y L, Cholestanetriol 26-Monooxygenase, Cloning, Cultured, Cytoplasmic and Nuclear/genetics/metabolism, Department of Integrative Medical Sciences, DNA, DNA/chemistry/genetics, Dose-Response Relationship, Drug, gene, Gene Expression Regulation/drug effects, Genetic/*genetics, Hepatocyte Nuclear Factor 4, Humans, Luciferases/genetics/metabolism, Molecular, Molecular Sequence Data, Mutagenesis, Mutation, NEOMED College of Medicine, Phosphoproteins/genetics/*metabolism, Promoter Regions, Receptors, Recombinant Fusion Proteins/genetics/metabolism, Response Elements/genetics, Sequence Analysis, Site-Directed, Steroid Hydroxylases/*genetics, Transcription Factors/genetics/*metabolism, Transfection, Tumor Cells
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
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
Tags: 2005, Animal, Animals, Askew Michael J, Biomechanical Phenomena, Body Weight/drug effects, Bone and Bones/drug effects, Bone/prevention & control, Collagen Type I, Collagen/genetics, Densitometry, Department of Family & Community Medicine, Disease Models, Femur/drug effects/pathology, Fractures, Growth Hormone/*therapeutic use, Heterozygote, Humans, Inbred C57BL, Jarjoura David, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, King Donna, Lumbar Vertebrae/drug effects, McEwen Heather A, Mice, Mutation, NEOMED College of Medicine, Osteoblasts/*drug effects/metabolism, Osteogenesis Imperfecta/*drug therapy, Phenotype, Time Factors, Transgenic
Reduced AMPK activation and increased HCAR activation drive anti-inflammatory response and neuroprotection in glaucoma.
Tags: 2018, AMP-activated protein kinase, AMP-Activated Protein Kinases/*metabolism, Animal, Animals, Biological, Calcium Binding Proteins – Metabolism, Calcium-Binding Proteins/metabolism, Cells – Drug Effects, Cells – Pathology, Department of Pharmaceutical Sciences, Diet, Disease Models, Eye Proteins/genetics, Female, G-Protein-Coupled – Metabolism, G-Protein-Coupled/*metabolism, Glaucoma, Glaucoma – Complications, Glaucoma – Pathology, Glaucoma/*complications/pathology, Harun-Or-Rashid Mohammad, Impact of Events Scale, Inbred DBA, Inflammation – Etiology, Inflammation – Prevention and Control, Inflammation hydroxycarboxylic acid receptor, Inflammation/*etiology/*prevention & control, Inman Denise M, Journal of neuroinflammation, Ketogenic diet, Ketogenic/methods, Male, Membrane Glycoproteins, Membrane Glycoproteins/genetics, Mice, Microfilament Proteins – Metabolism, Microfilament Proteins/metabolism, Microglia/drug effects/pathology, Models, Mutation, Mutation/genetics, NEOMED College of Pharmacy, Neuroprotection/drug effects/*physiology, NLR Family, Optic Nerve – Pathology, Optic Nerve/pathology, Phosphotransferases – Metabolism, Proteins, Pyrin Domain-Containing 3 Protein/genetics/metabolism, Receptors, Retina – Drug Effects, Retina – Pathology, Retinal Ganglion Cells/drug effects/*pathology, Transgenic
Genetically enhancing the expression of chemokine domain of CX3CL1 fails to prevent tau pathology in mouse models of tauopathy.
Tags: 2018, Alzheimer's disease, Animal, Animals, Antigens, Bemiller Shane M, Bhaskar Kiran, Biological, Calcium Binding Proteins – Metabolism, Calcium-Binding Proteins/metabolism, Cannon Judy L, Cardona Astrid E, Cells – Drug Effects, Cells – Metabolism, Cells – Pathology, Chemokine CX3CL1/*genetics/metabolism, Cognition Disorders – Etiology, Cognition Disorders/etiology, Crish Samuel D, CX3CL1, CX3CR1, Cytokines, Cytokines – Metabolism, Cytokines/metabolism, Department of Pharmaceutical Sciences, Differentiation/genetics/metabolism, Disease Models, Formica Shane V, Gene Expression Regulation/drug effects/*genetics, Genes, Genes – Drug Effects, Journal of neuroinflammation, Jung Steffen, Kim Ki-Wook, Kokiko-Cochran Olga N, Lamb Bruce T, Learning, Lipopolysaccharides, Lipopolysaccharides/toxicity, Maphis Nicole M, Maze Learning, Mice, Microfilament Proteins – Metabolism, Microfilament Proteins/metabolism, Microglia, Microglia/drug effects/*metabolism/pathology, Miller Crystal M, Models, Mutation, Mutation/genetics, NEOMED College of Pharmacy, Nerve Tissue Proteins, Nerve Tissue Proteins – Metabolism, Neurodegenerative Diseases, Neurodegenerative Diseases – Complications, Neurodegenerative Diseases – Pathology, Neuroinflammation, Surface, Surface – Metabolism, Tau, tau Proteins/genetics/metabolism, Tauopathies, Tauopathies/complications/genetics/*pathology, Transgenic, Wilson Gina N, Xu Guixiang
PKCalpha mediates acetylcholine-induced activation of TRPV4-dependent calcium influx in endothelial cells.
Tags: 2011, Acetylcholine/*pharmacology, Adapala Ravi K, American journal of physiology. Heart and circulatory physiology, Animals, Bratz Ian N, Calcium Signaling/*drug effects, Carbazoles/pharmacology, Cells, Cultured, Department of Integrative Medical Sciences, Endothelial Cells/*drug effects/enzymology, Enzyme Activation, Inbred C57BL, Knockout, Male, Mesenteric Arteries/drug effects/enzymology, Meszaros J Gary, Mice, Mutation, NEOMED College of Medicine, Nitric Oxide Synthase Type III/metabolism, Phosphorylation, Protein Kinase C-alpha/genetics/*metabolism, Protein Kinase Inhibitors/pharmacology, Suzuki Makoto, Talasila Phani K, Tetradecanoylphorbol Acetate/pharmacology, Thodeti Charles K, Time Factors, Transfection, TRPV Cation Channels/*agonists/deficiency/genetics/metabolism, Vasodilation/*drug effects, Vasodilator Agents/*pharmacology, Zhang David X
Pomegranate exerts chemoprevention of experimentally induced mammary tumorigenesis by suppression of cell proliferation and induction of apoptosis.
Tags: *Punicaceae/chemistry, 10-Dimethyl-1, 2-benzanthracene, 2016, 9, Animal Studies, Animals, Anticarcinogenic Agents/*therapeutic use, Apoptosis, Apoptosis/*drug effects, Bhatia Deepak, Bhattacharyya Piyali, Bishayee Anupam, Breast Neoplasms – Mortality, Breast Neoplasms – Prevention and Control, Breast Neoplasms – Risk Factors, Cell Physiology, Cell Proliferation/*drug effects, Diet – Evaluation, Experimental/pathology/*prevention & control, Female, Funding Source, Gene Expression Regulation, Genes, Human, Immunohistochemistry, Mammary Neoplasms, Mandal Animesh, Mutation, National Institutes of Health (U.S.), Neoplasms – Prevention and Control, Nutrition and cancer, Phytotherapy, Pomegranate, Proto-Oncogene Proteins c-bcl-2/analysis, Rats, Sprague-Dawley, Tamoxifen, United States
Age-related changes in nigrostriatal dopaminergic function are accentuated in +/- brain-derived neurotrophic factor mice.
Tags: *Aging, 2004, Anderson L I, Animals, Brain-Derived Neurotrophic Factor/*genetics/*metabolism, Corpus Striatum/*metabolism, Dluzen D E, Dopamine/*biosynthesis, Joyce J N, Kucera J, McDermott J L, Mice, Motor Activity/physiology, Mutant Strains, Mutation, Neuroscience, Osredkar T, Substantia Nigra/*metabolism, Walro J M
Age-related changes in nigrostriatal dopaminergic function in heterozygous mutant dopamine transporter knock-out mice.
Tags: 2010, 3, 4-Dihydroxyphenylacetic Acid/*metabolism, Aging/*physiology, Animals, Corpus Striatum/*metabolism, Dluzen Dean E, Dopamine Plasma Membrane Transport Proteins/*genetics, Dopamine/*metabolism, Heterozygote, Inbred C57BL, Ji Jing, Knockout, Male, McDermott Janet L, Mice, Motor Activity, Mutation, Neuroscience letters, Substantia Nigra/*metabolism
The effect of gender and the neurotrophin, BDNF, upon methamphetamine-induced neurotoxicity of the nigrostriatal dopaminergic system in mice.
Tags: 2004, Animals, Brain-Derived Neurotrophic Factor/deficiency/genetics/*metabolism, Central Nervous System Stimulants/poisoning, Corpus Striatum/*drug effects/*metabolism, Dluzen Dean E, Dopamine/*metabolism, Dose-Response Relationship, Drug, Female, Humans, Male, Methamphetamine/*poisoning, Mice, Mutation, Neuroscience letters, Neurotoxicity Syndromes/*etiology/*metabolism, Sex Factors, Structure-Activity Relationship, Substantia Nigra/drug effects/metabolism, Transgenic
Tags: *Signal Transduction, 2014, Abdelmagid Samir M, Alkaline Phosphatase/metabolism, Animals, Apoptosis, Belcher Joyce Y, Bone and Bones/metabolism/pathology, Cell Differentiation/genetics, Del Carpio-Cano Fabiola E, Department of Anatomy & Neurobiology, Eye Proteins/*genetics, Frara Nagat A, Inbred DBA, Lababidi Suzanne L, Male, Membrane Glycoproteins/*genetics, Mice, Moussa Fouad M, Mutation, NEOMED College of Medicine, Newborn, Novak Kimberly M, Osteoblasts/cytology/*physiology, Osteocalcin/*genetics, Osteogenesis/*genetics, Phenotype, Razmpour Roshanak, Receptors, Safadi Fayez F, Sanyurah Afif S, Sondag Gregory R, The American journal of pathology, Transforming Growth Factor beta/metabolism
Multiple mechanisms for HSV-1 induction of interferon alpha production by peripheral blood mononuclear cells.
Tags: 2003, Alexander T S, Archives of virology, Fucose/pharmacology, Gene Expression Regulation/drug effects, Herpesvirus 1, Human/classification/drug effects/genetics/*physiology, Humans, Interferon-alpha/*biosynthesis, Koski G K, Mutation, Myeloid Cells/drug effects/*metabolism/*virology, Rong Q, Rosenthal K S, Species Specificity, Virus Replication