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Kidney International, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 676 - 683
Journal Article
Nature, ISSN 0028-0836, 09/2011, Volume 477, Issue 7363, pp. 211 - 215
Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron degeneration in the brain and spinal cord. Most cases of... 
GENE-MUTATIONS | CRITERIA | PROTEIN AGGREGATION | FUS | TDP-43 | MULTIDISCIPLINARY SCIENCES | PROTEASOME | AMYOTROPHIC-LATERAL-SCLEROSIS | FRONTOTEMPORAL LOBAR DEGENERATION | SUPEROXIDE-DISMUTASE | DOMAINS | Brain | Spinal cord | Sarcoma | Therapeutic applications | X chromosome | Amyotrophic lateral sclerosis | Superoxide dismutase | FUS protein | DNA-binding protein | Neurodegeneration | Dementia disorders | Mutation | Protein interaction | Ubiquitin | Pathogenesis | Humans | Molecular Sequence Data | Male | Proteasome Endopeptidase Complex | Proteins | Genes, X-Linked | Genes, Dominant | Base Sequence | Ubiquitins | Aging | Adult | Female | Chromosomes | Child | Deoxyribonucleic acid--DNA | protein TDP-43 | DNA-Binding Proteins | Amino Acid Sequence | Cell Line | Studies | Pathology | UBQLN2 protein, human | Spinal Cord | Pedigree | Age of Onset | Alzheimers disease | Cell Cycle Proteins | Hippocampus | Dementia | Cell Cycle Proteins - analysis | Spinal Cord - metabolism | Ubiquitins - genetics | Ubiquitin - metabolism | Dementia - genetics | DNA-Binding Proteins - metabolism | Cell Cycle Proteins - genetics | Dementia - pathology | Genes, X-Linked - genetics | Amyotrophic Lateral Sclerosis - genetics | Mutation - genetics | Amyotrophic Lateral Sclerosis - complications | Hippocampus - metabolism | Amyotrophic Lateral Sclerosis - pathology | Dementia - complications | Ubiquitins - analysis | Proteasome Endopeptidase Complex - metabolism | Genes, Dominant - genetics | Genetic aspects | Diagnosis | Research | Gene mutations | Index Medicus
Journal Article
Nature Medicine, ISSN 1078-8956, 12/2014, Volume 20, Issue 12, pp. 1410 - 1416
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes fatal autoimmunity in mice.... 
PATHWAYS | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-PICTURE | HOMEOSTASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | AUTOIMMUNITY | REGULATORY T-CELLS | GERMLINE MUTATIONS | MICE | BLOCKADE | IMMUNODEFICIENCY | ABATACEPT | Proteins | Homeostasis | Cytotoxicity | Ligands | T cell receptors | Mutation | Immune system | Autoimmunity | Immune response | Immunoregulation | Exons | Nonsense mutation | Recurrent infection | CD80 antigen | Hypogammaglobulinemia | Lymphocytes T | CTLA-4 protein | Missense mutation | haploinsufficiency | Lymphocytes B | Cell number | Recurrence | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Purpura, Thrombocytopenic, Idiopathic - genetics | Immune System Diseases - genetics | Humans | Middle Aged | Male | Anemia, Hemolytic, Autoimmune - genetics | Mutation, Missense | Respiratory Tract Infections - genetics | T-Lymphocytes, Regulatory - immunology | Autoimmune Diseases - genetics | Young Adult | Purpura, Thrombocytopenic, Idiopathic - immunology | Adult | Female | Endocytosis - genetics | Polyendocrinopathies, Autoimmune - genetics | Child | Endocytosis - immunology | Granuloma - genetics | Autoimmune Diseases - immunology | CTLA-4 Antigen - genetics | B7-1 Antigen - metabolism | Codon, Nonsense | CTLA-4 Antigen - immunology | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Lung Diseases, Interstitial - immunology | Animals | B-Lymphocytes - immunology | Lung Diseases, Interstitial - genetics | Pedigree | Anemia, Hemolytic, Autoimmune - immunology | Adolescent | Respiratory Tract Infections - immunology | Granuloma - immunology | Heterozygote | Mice | Antigens | Gene mutations | Physiological aspects | Genetic aspects | Immunologic diseases | Research | Risk factors | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 553 - 561
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2007, Volume 39, Issue 9, pp. 1068 - 1070
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified... 
AICARDI-GOUTIERES-SYNDROME | GENETICS & HEREDITY | CEREBRORETINAL VASCULOPATHY | VASCULAR RETINOPATHY | NEPHROPATHY | LOCUS | HEREDITARY ENDOTHELIOPATHY | Stroke | Vascular diseases | exonuclease | Leukodystrophy | DNA | Frameshift mutation | Dementia disorders | Data processing | Retina | Microvasculature | Vascular system | Retinal Diseases | Brain | three prime repair exonuclease 1 | Humans | Molecular Sequence Data | Recombinant Fusion Proteins | Transfection | Genes, Dominant | Phosphoproteins | Deoxyribonucleic acid | Genetics | Brain Diseases | Luminescent Proteins | Amino Acid Sequence | Cell Line | Genetic Predisposition to Disease | Sequence Homology, Amino Acid | Neurology | Microscopy, Confocal | Mutation | Exodeoxyribonucleases | Cell Nucleus | Cytoplasm | Veins & arteries | Dementia | Retinal Diseases - genetics | Brain Diseases - genetics | Cytoplasm - metabolism | Phosphoproteins - metabolism | Recombinant Fusion Proteins - metabolism | Phosphoproteins - chemistry | Cell Nucleus - metabolism | Exodeoxyribonucleases - genetics | Brain Diseases - enzymology | Phosphoproteins - genetics | Retinal Diseases - enzymology | Exodeoxyribonucleases - metabolism | Recombinant Fusion Proteins - genetics | Luminescent Proteins - genetics | Exodeoxyribonucleases - chemistry | Luminescent Proteins - metabolism | Physiological aspects | Exonucleases | Genetic aspects | Diagnosis | Research | Retinal diseases | Risk factors | Brain diseases | Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2016, Volume 126, Issue 8, pp. 3080 - 3088
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2014, Volume 9, Issue 2, pp. e88589 - e88589
Assessing the impact of global warming on the food web of the North Atlantic will require difficult-to-obtain physiological data on a key copepod crustacean,... 
NERVOUS-SYSTEM | PHARMACOLOGY | MULTIDISCIPLINARY SCIENCES | GATED SODIUM-CHANNELS | GENE-EXPRESSION | MODEL | IDENTIFICATION | INTERNATIONAL-UNION | DIAPAUSE | GENOME | SEA | Multiplexing | Invertebrate genomics | RNA | Genomics | Diapause | Neurobiology | Organisms | Sequence assembly tools | Gene libraries | Proteins | Crustaceans | Transcriptome analysis | Developmental stages | Food chains | Calanus finmarchicus | Copepoda | Sodium channels (voltage-gated) | Physiology | Neurotoxins | Splicing | Data acquisition | United States--US | Sequence alignment | Gene expression | Fatty acids | Studies | Ribonucleic acids | Sodium | Gene duplication | Toxins | Drosophila melanogaster | Voltage-gated sodium channels | Electric potential | Alternative splicing | Neurosciences | Laboratories | Lipids | Biosynthesis | Genomes | Food webs | Channels | Crustacea | Daphnia pulex | Voltage | Life cycle engineering | Global warming | Hawaii | Ecology | Gene ontologies | Climate change | Females | Life cycles | Copepoda - growth & development | Animals | Copepoda - genetics | Gene Expression Regulation, Developmental | Atlantic Ocean | Molecular Sequence Annotation | RNA, Messenger - genetics | Female | Male | Gene Expression Profiling | RNA, Messenger - metabolism | Gene Ontology | Embryonic development | Genomic libraries | Genes | Shellfish | Ribonucleic acid--RNA | Index Medicus | Ribonucleic acid
Journal Article