Human Disease

Human xeroderma pigmentosum group D gene encodes a DMA helicase

Genetics / DNA repair / Transcription Factors / Multidisciplinary / Nature / Saccharomyces cerevisiae / Humans / Cell fusion / Skin Cancer / Escherichia coli / Ultraviolet / Nucleotide Excision Repair / Proteins / Molecular cloning / Human Disease / Recombinant Proteins / DNA binding proteins / Xeroderma Pigmentosum / Adenosine Triphosphate / Saccharomyces cerevisiae / Humans / Cell fusion / Skin Cancer / Escherichia coli / Ultraviolet / Nucleotide Excision Repair / Proteins / Molecular cloning / Human Disease / Recombinant Proteins / DNA binding proteins / Xeroderma Pigmentosum / Adenosine Triphosphate

A diet-induced mouse model for glutaric aciduria type I

Magnetic Resonance Imaging / Diet / Survival Analysis / Brain / Mice / Blood brain barrier / Female / Animals / Plant tissue Culture Techniques / Male / Astrocyte / Animal Model / Neurons / Mouse Model / Lysine / Subarachnoid haemorrhage / Human Disease / Dietary Protein / High-protein Diet / Autosomal Recessive / White Matter Lesions / Corpus striatum / Blood brain barrier / Female / Animals / Plant tissue Culture Techniques / Male / Astrocyte / Animal Model / Neurons / Mouse Model / Lysine / Subarachnoid haemorrhage / Human Disease / Dietary Protein / High-protein Diet / Autosomal Recessive / White Matter Lesions / Corpus striatum

DNA Sequence and Comparative Genomics of pAPEC-O2-R, an Avian Pathogenic Escherichia coli Transmissible R Plasmid

Microbiology / Comparative Genomics / Medical Microbiology / Public Health / Food supply / Escherichia coli / Multidrug Resistance / Animals / Heavy Metal / GC content / Antimicrobial resistance / Human health / Chickens / Antimicrobial agents / Microbial Sensitivity Tests / Human Disease / Open Reading Frame / Quaternary Ammonium Compounds / DNA sequence / Escherichia coli / Multidrug Resistance / Animals / Heavy Metal / GC content / Antimicrobial resistance / Human health / Chickens / Antimicrobial agents / Microbial Sensitivity Tests / Human Disease / Open Reading Frame / Quaternary Ammonium Compounds / DNA sequence

Tumor-specific Th17-polarized cells eradicate large established melanoma

Clinical Trial / Biology / Medicine / T cell receptor / Mice / Melanoma / Animals / Blood / Clinical Sciences / MHC class II / Human Disease / Transgenic Mouse Technology / Interferon gamma / Melanoma / Animals / Blood / Clinical Sciences / MHC class II / Human Disease / Transgenic Mouse Technology / Interferon gamma

RDH12 and RPE65, Visual Cycle Genes Causing Leber Congenital Amaurosis, Differ in Disease Expression

Psychophysics / Blindness / Membrane Proteins / Optical coherence tomography / Adolescent / Biological Sciences / Protein Structure and Function / Vision / Humans / Child / Mutation / Retina / Retinal Degeneration / Genes / Middle Aged / Adult / Human Disease / Gene Disruption / Optical Coherence Tomography (OCT) Market / Gene Transfer / Dark Adaptation / Biological Sciences / Protein Structure and Function / Vision / Humans / Child / Mutation / Retina / Retinal Degeneration / Genes / Middle Aged / Adult / Human Disease / Gene Disruption / Optical Coherence Tomography (OCT) Market / Gene Transfer / Dark Adaptation

Study of pulmonary experimental paracoccidioidomycosis by analysis of bronchoalveolar lavage cells: resistant vs. susceptible mice

Plant Biology / Innate immunity / Mice / Animals / Male / Lung / Hydrogen Peroxide / Cellular Immunity / Human Disease / Somatic Cell Count / Enzyme Linked Immunosorbent Assay / Paracoccidioides / Bronchoalveolar lavage / Lung / Hydrogen Peroxide / Cellular Immunity / Human Disease / Somatic Cell Count / Enzyme Linked Immunosorbent Assay / Paracoccidioides / Bronchoalveolar lavage

In vivo protein transduction: biologically active intact pep-1-superoxide dismutase fusion protein efficiently protects against ischemic insult

Genetics / Neuronal cell death / Free Radical / Hippocampus / Reactive Oxygen Species / Mice / Animals / Male / Peptides / Protein structure / Brain Ischemia / Neurons / Astrocytes / Epidermis / Superoxide Dismutase / Antioxidant enzyme / Molecular cloning / Amino Acid Profile / Biological activity / Reperfusion injury / Human Disease / Fusion Protein / Full Length Movies / Biochemistry and cell biology / Mice / Animals / Male / Peptides / Protein structure / Brain Ischemia / Neurons / Astrocytes / Epidermis / Superoxide Dismutase / Antioxidant enzyme / Molecular cloning / Amino Acid Profile / Biological activity / Reperfusion injury / Human Disease / Fusion Protein / Full Length Movies / Biochemistry and cell biology

A new preclinical femoral head osteonecrosis model in sheep

Magnetic Resonance Imaging / Sheep / Animals / Animal Model / Clinical Sciences / Gold Standard / Biological treatment / Disease Progression / Human Disease / Freezing / Gold Standard / Biological treatment / Disease Progression / Human Disease / Freezing

Infecciones fúngicas invasivas emergentes

Clinical Trial / Humans / Child / Fusarium / Fungal Infection / Antifungal Agents / Human Disease / Antifungal Agents / Human Disease

Increased expression of rapsyn in muscles prevents acetylcholine receptor loss in experimental autoimmune myasthenia gravis

Electron Microscopy / Skeletal muscle biology / Gene Therapy / Immunohistochemistry / Confocal Microscopy / Brain / Female / Animals / Disease Severity / Electromyography / Synaptic Transmission / Fluorescent Antibody Technique / Rats / Myasthenia Gravis / Human Disease / Action Potentials / Individual Difference / Neuromuscular Junction / Radioimmunoassay / Brain / Female / Animals / Disease Severity / Electromyography / Synaptic Transmission / Fluorescent Antibody Technique / Rats / Myasthenia Gravis / Human Disease / Action Potentials / Individual Difference / Neuromuscular Junction / Radioimmunoassay

Epigenetic Regulation of Lentiviral Transgene Vectors in a Large Animal Model

Pharmacology / Genetics / Technology / HIV / Biological Sciences / Molecular / Animals / DNA methylation / CpG islands / Transgenic Animals / Animal Model / Swine / Histone deacetylase inhibitor / Human Disease / Human Fibroblasts / Transgene Expression / Hydroxamic Acids / Molecular Targeted Therapy / Gene Transfer / Histone deacetylase inhibitors / Histone deacetylases / Molecular / Animals / DNA methylation / CpG islands / Transgenic Animals / Animal Model / Swine / Histone deacetylase inhibitor / Human Disease / Human Fibroblasts / Transgene Expression / Hydroxamic Acids / Molecular Targeted Therapy / Gene Transfer / Histone deacetylase inhibitors / Histone deacetylases

Human disease classification in the postgenomic era: A complex systems approach to human pathobiology

Genomics / Systems Biology / Complex System / Humans / Disease / Molecular systems biology / Human Disease / Clinical Presentation / Molecular systems biology / Human Disease / Clinical Presentation

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

Research Design / Polymorphism / Population Genetics / Risk / Biological Sciences / Primates / Humans / Animals / Gene Dosage / Chromosome Disorders / Human Disease / Complex Structure / Comparative Genomic Hybridization / Primates / Humans / Animals / Gene Dosage / Chromosome Disorders / Human Disease / Complex Structure / Comparative Genomic Hybridization

Macrophage Plasticity in Experimental Atherosclerosis

Engineering / Physics / Chemistry / Biology / Atherosclerosis / Macrophages / Medicine / Multidisciplinary / Mice / Animals / PLoS one / Mouse Model / Cross Section / Cell Proliferation / Human Disease / Macrophages / Medicine / Multidisciplinary / Mice / Animals / PLoS one / Mouse Model / Cross Section / Cell Proliferation / Human Disease

Macrophage Plasticity in Experimental Atherosclerosis

Engineering / Physics / Chemistry / Biology / Atherosclerosis / Macrophages / Medicine / Multidisciplinary / Mice / Animals / PLoS one / Mouse Model / Cross Section / Cell Proliferation / Human Disease / Macrophages / Medicine / Multidisciplinary / Mice / Animals / PLoS one / Mouse Model / Cross Section / Cell Proliferation / Human Disease

DNA repair deficiency and neurological disease

Cognitive Science / DNA repair / Humans / Animals / Nervous System / Human Disease / Neurosciences / Nervous System Diseases / Human Disease / Neurosciences / Nervous System Diseases
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