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Journal Article
Journal Article
Nature, ISSN 0028-0836, 05/2010, Volume 465, Issue 7295, pp. 223 - 226
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary... 
OPEN-ANGLE GLAUCOMA | COMPLEX | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | EXPRESSION | NEMO | MYOSIN-VI | Haplotypes | Sequence Deletion | OPTN protein, human | Exons | Genes | Humans | Middle Aged | Amino acids | Male | Family medical history | Mutation, Missense | Young Adult | Amyotrophic Lateral Sclerosis | NF-kappa B | Base Sequence | Genetics | Adult | Female | Chromosomes | Child | Transcription Factor TFIIIA | protein TDP-43 | DNA-Binding Proteins | Amino Acid Sequence | Japan | Codon, Nonsense | Protein Transport | Studies | Mutant Proteins | Aged, 80 & over | Asian Continental Ancestry Group | Pedigree | Adolescent | Aged | Consanguinity | Polymorphism, Single Nucleotide | Mutation | Cytoplasm | superoxide dismutase 1 | Apoptosis | Superoxide Dismutase | Glaucoma | Drugs | Motor neurons | NF-B protein | Spinal cord | Sarcoma | Brain stem | Nonsense mutation | Transgenic mice | Antibodies | Amyotrophic lateral sclerosis | Superoxide dismutase | Cortex (motor) | Gene deletion | Angiogenin | FUS protein | Missense mutation | DNA-binding protein | Transfection | Inclusion bodies | Degeneration | Age | Amyotrophic Lateral Sclerosis - physiopathology | Transcription Factor TFIIIA - genetics | Cytoplasm - metabolism | NF-kappa B - metabolism | Cytoplasm - pathology | Transcription Factor TFIIIA - metabolism | Mutation, Missense - genetics | DNA-Binding Proteins - metabolism | Aged, 80 and over | Superoxide Dismutase - metabolism | NF-kappa B - agonists | NF-kappa B - antagonists & inhibitors | Amyotrophic Lateral Sclerosis - genetics | Mutant Proteins - genetics | Transcription Factor TFIIIA - chemistry | Exons - genetics | Mutant Proteins - metabolism | Mutation - genetics | Transcription Factor TFIIIA - analysis | Amyotrophic Lateral Sclerosis - pathology | Mutant Proteins - chemistry | Amyotrophic Lateral Sclerosis - metabolism | Polymorphism, Single Nucleotide - genetics | Superoxide Dismutase-1 | Mutant Proteins - analysis | Codon, Nonsense - genetics | Sequence Deletion - genetics | Cellular proteins | Gene mutations | Physiological aspects | Genetic aspects | Research | Health aspects | Risk factors | Index Medicus
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2010, Volume 363, Issue 12, pp. 1189 - 1190
To the Editor: Erythrocytosis occurring in association with a subnormal serum erythropoietin level is indicative of underlying erythropoietin-independent... 
MEDICINE, GENERAL & INTERNAL | PREVALENCE | Polycythemia - genetics | Proteins - genetics | Phenotype | DNA Mutational Analysis | Humans | Janus Kinase 2 - genetics | Codon, Nonsense | Mutation, Missense | Bone marrow | Mutation | Lymphocytes | Pathogenesis
Journal Article
Human Mutation, ISSN 1059-7794, 02/2018, Volume 39, Issue 2, pp. 266 - 280
Journal Article
Cancer Cell, ISSN 1535-6108, 05/2012, Volume 21, Issue 5, pp. 614 - 625
Rescuing the function of mutant p53 protein is an attractive cancer therapeutic strategy. Using the National Cancer Institute's anticancer drug screen data, we... 
WILD-TYPE CONFORMATION | DNA-BINDING DOMAIN | RESCUE | ONCOLOGY | IRON CHELATORS | MUTATION | REDOX ACTIVITY | TUMOR-SUPPRESSOR | CANCER MUTANTS | RESTORATION | ANTITUMOR-ACTIVITY | CELL BIOLOGY | Antitumor agents | Lymphocytes B | Xenografts | Data processing | Drug development | Zinc | p53 protein | Apoptosis | Cancer | Structure-function relationships | Tumors | Neoplasms - metabolism | Reactive Oxygen Species - metabolism | Apoptosis - drug effects | Zinc - metabolism | Humans | Transcriptional Activation - drug effects | Structure-Activity Relationship | Mutation, Missense | Tumor Suppressor Protein p53 - genetics | Dose-Response Relationship, Drug | Transfection | Neoplasms - genetics | RNA Interference | Time Factors | Antineoplastic Agents - pharmacology | Thiosemicarbazones - pharmacology | Gene Expression Regulation, Neoplastic - drug effects | Binding Sites | Cell Line | Cell Survival - drug effects | Oxidation-Reduction | Mice, Inbred C57BL | Tumor Suppressor Protein p53 - metabolism | Mice, Transgenic | Chelating Agents - pharmacology | DNA - metabolism | Tumor Suppressor Protein p53 - drug effects | Gene Knock-In Techniques | Neoplasms - drug therapy | Xenograft Model Antitumor Assays | Animals | Tumor Burden - drug effects | Mice, Nude | Alleles | Protein Conformation | Mice | Mice, Inbred BALB C | Tumor Suppressor Protein p53 - chemistry | Oxidative Stress - drug effects | Neoplasms - pathology | Care and treatment | Nuclear radiation | Oncology, Experimental | Research | Tumor proteins | Health aspects | Index Medicus
Journal Article
Journal Article