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Nature, ISSN 0028-0836, 05/2017, Volume 545, Issue 7653, pp. 175 - 180
Melanoma of the skin is a common cancer only in Europeans, whereas it arises in internal body surfaces (mucosal sites) and on the hands and feet (acral sites)... 
TERT PROMOTER MUTATIONS | UVEAL MELANOMA | SEQUENCE DATA | MULTIDISCIPLINARY SCIENCES | RECURRENT MUTATIONS | FREQUENT SOMATIC MUTATIONS | MALIGNANT-MELANOMA | GENERAL FRAMEWORK | CANCER GENOMES | ACTIVATING MUTATIONS | DRIVER MUTATIONS | GTP Phosphohydrolases | TERT protein, human | TP53 protein, human | Humans | Neurofibromatosis 1 | X-linked Nuclear Protein | Telomere | SF3B1 protein, human | Ultraviolet Rays | ATRX protein, human | Phosphoproteins | Proto-Oncogene Proteins B-raf | Telomerase | Mitogen-Activated Protein Kinases | Signal Transduction | Melanoma | RNA Splicing Factors | BRAF protein, human | Genes, p16 | Nuclear Proteins | Index Medicus | Membrane Proteins | NRAS protein, human | DNA Helicases | Tumor Suppressor Protein p53 | Mutation | Genome, Human | Pathogenesis | Copy number | Mucosa | p53 Protein | Radiation | Security | Epidemiology | Metastases | Reproduction (copying) | Coding | Mismatch repair | Clusters | Eye (anatomy) | Fellowships | Deoxyribonucleic acid--DNA | Medical research | Breakpoints | Radiation effects | MAP kinase | Exposure | Sun | Amplification | Bridges | Pathology | Ultraviolet radiation | Mutagenesis | Computation | Skin | Internet | Aberration | Biotechnology | Genes | DNA damage | Genomes | Carcinogens | Infrastructure | Signatures | Health | U.V. radiation | Inversions | Foldback | Data processing | Energy policy | Readers | Deamination | Protein kinase | DNA | Cell lines | Gene mapping | Tumors | Cancer | Membrane Proteins - genetics | Phosphoproteins - genetics | RNA Splicing Factors - genetics | Mutation - genetics | Genome, Human - genetics | Tumor Suppressor Protein p53 - genetics | Ultraviolet Rays - adverse effects | Telomerase - genetics | Signal Transduction - drug effects | GTP Phosphohydrolases - genetics | Melanoma - genetics | Proto-Oncogene Proteins B-raf - genetics | Mitogen-Activated Protein Kinases - genetics | Neurofibromatosis 1 - genetics | Melanoma - classification | Nuclear Proteins - genetics | DNA Helicases - genetics | Telomere - genetics | Genetic research | Genetic aspects | Research | Biological Science | 60 APPLIED LIFE SCIENCES
Journal Article
Nature Medicine, ISSN 1078-8956, 04/2012, Volume 18, Issue 4, pp. 521 - 528
Tyrosine kinase inhibitors (TKIs) elicit high response rates among individuals with kinase-driven malignancies, including chronic myeloid leukemia (CML) and... 
CHRONIC MYELOGENOUS LEUKEMIA | MEDICINE, RESEARCH & EXPERIMENTAL | APOPTOSIS | GEFITINIB | BIOCHEMISTRY & MOLECULAR BIOLOGY | EYE DISEASES | CHRONIC MYELOID-LEUKEMIA | CELL BIOLOGY | CELL LUNG-CANCER | FACTOR RECEPTOR EGFR | GROWTH | ACTIVATING MUTATIONS | MUTANT EGFR | Sequence Deletion | Inhibitor drugs | Follow-Up Studies | Carcinoma, Non-Small-Cell Lung | Exons | Humans | Middle Aged | BH3 Interacting Domain Death Agonist Protein | Gene Expression Regulation, Neoplastic | Drug Resistance, Neoplasm | Male | Kinases | Lung Neoplasms | Dose-Response Relationship, Drug | BID protein, human | Transfection | Statistics, Nonparametric | Adult | Female | Proto-Oncogene Proteins | Enzyme-Linked Immunosorbent Assay | Gene Frequency | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | Genotype | International Cooperation | Gene expression | Annexins | Polymorphism, Genetic | Membrane Proteins | Bcl-2-like protein 11 | Aged, 80 & over | Protein Kinase Inhibitors | Apoptosis Regulatory Proteins | Protein Isoforms | Cell Line, Tumor | Aged | RNA, Small Interfering | Mutation | Apoptosis | Polymorphism | Cohort Studies | Receptor, Epidermal Growth Factor | Enzyme-Linked Immunosorbent Assay - methods | Lung Neoplasms - drug therapy | Receptor, Epidermal Growth Factor - genetics | Apoptosis - drug effects | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics | BH3 Interacting Domain Death Agonist Protein - genetics | Protein Isoforms - metabolism | Bcl-2-Like Protein 11 | Aged, 80 and over | Apoptosis Regulatory Proteins - genetics | Gene Expression Regulation, Neoplastic - drug effects | Lung Neoplasms - genetics | Annexins - metabolism | Carcinoma, Non-Small-Cell Lung - genetics | Membrane Proteins - genetics | Exons - genetics | Proto-Oncogene Proteins - genetics | Drug Resistance, Neoplasm - genetics | Polymorphism, Genetic - genetics | Protein Kinase Inhibitors - pharmacology | Carcinoma, Non-Small-Cell Lung - drug therapy | Drug Resistance, Neoplasm - drug effects | Protein Isoforms - genetics | RNA, Small Interfering - metabolism | Sequence Deletion - genetics | Antimitotic agents | Physiological aspects | Protein tyrosine kinase | Dosage and administration | Genetic aspects | Research | Antineoplastic agents | Tumor proteins | Genetic polymorphisms | Index Medicus
Journal Article
Nature Neuroscience, ISSN 1097-6256, 05/2010, Volume 13, Issue 5, pp. 551 - 558
Brain structure and size require precise division of neural stem cells (NSCs), which self-renew and generate intermediate neural progenitors (INPs) and... 
HUMAN-CHROMOSOMES | PROTEIN | LIS1 EXPRESSION | LISSENCEPHALY GENE | SECKEL-SYNDROME | NASHI | SPINDLE ORIENTATION | NEUROGENESIS | NEUROSCIENCES | MESSENGER-RNA LOCALIZATION | CEREBRAL CORTICAL SIZE | Brain | Green Fluorescent Proteins | Age Factors | Oligonucleotide Array Sequence Analysis | Embryo, Mammalian | Humans | Repressor Proteins | Bromodeoxyuridine | Gene Expression Profiling | Microcephaly | Neurogenesis | PAX6 protein | Stem Cells | Transfection | RNA Interference | DNA Mutational Analysis | Gene Expression Regulation, Developmental | Cell Division | 1-Alkyl-2-acetylglycerophosphocholine Esterase | Magoh protein, mouse | Cell Differentiation | Animals, Newborn | In Situ Nick-End Labeling | Pafah1b1 protein, mouse | Neurons | Paired Box Transcription Factors | Mice, Inbred C57BL | Microtubule-Associated Proteins | Organ Size | Genotype | Mice, Transgenic | Nerve Tissue Proteins | Nuclear Proteins | Animals | Homeodomain Proteins | Eomes protein, mouse | Mice | HeLa Cells | Mutation | Eye Proteins | RNA, Messenger | T-Box Domain Proteins | Apoptosis | RNA | Exons | Mitosis | Chromosome number | Nervous system | Microencephaly | haploinsufficiency | genomics | Neural stem cells | Spindles | Brain - embryology | Microcephaly - genetics | Homeodomain Proteins - metabolism | Apoptosis - genetics | Green Fluorescent Proteins - genetics | RNA, Messenger - metabolism | Neurogenesis - genetics | Organ Size - genetics | Repressor Proteins - metabolism | Oligonucleotide Array Sequence Analysis - methods | Repressor Proteins - genetics | In Situ Nick-End Labeling - methods | Mutation - genetics | T-Box Domain Proteins - metabolism | Eye Proteins - metabolism | Brain - pathology | Paired Box Transcription Factors - genetics | Neurons - pathology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Gene Expression Regulation, Developmental - genetics | Brain - growth & development | Cell Differentiation - genetics | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Microcephaly - pathology | Microcephaly - physiopathology | Bromodeoxyuridine - metabolism | Eye Proteins - genetics | Nuclear Proteins - genetics | RNA Interference - physiology | Cell Division - genetics | Gene Expression Profiling - methods | Nuclear Proteins - metabolism | PAX6 Transcription Factor | Nerve Tissue Proteins - genetics | T-Box Domain Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | 1-Alkyl-2-acetylglycerophosphocholine Esterase - metabolism | Stem Cells - physiology | Paired Box Transcription Factors - metabolism | Animal experimentation | Axons | Usage | Brain research | Cell division | Physiological aspects | Causes of | Research | Mental retardation | Risk factors | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 01/2012, Volume 481, Issue 7381, pp. 329 - 334
Retinoblastoma is an aggressive childhood cancer of the developing retina that is initiated by the biallelic loss of RB1. Tumours progress very quickly... 
ANEUPLOIDY | CELLS | GENE | TYROSINE KINASE | MCL-1 | MULTIDISCIPLINARY SCIENCES | GROWTH | TUMOR | SYK INHIBITOR | CANCER | Cell survival | Retina | Genomes | epigenetics | retinoblastoma | Cell death | Syk protein | genomics | Children | Mutation | Tumors | Cancer | Proto-oncogenes | Intracellular Signaling Peptides & Proteins | Epigenesis, Genetic | Genomics | Humans | Gene Expression Regulation, Neoplastic | Aneuploidy | Kinases | Molecular Targeted Therapy | Experiments | Retinoblastoma Protein | Cell Death | DNA methylation | Chromosomes | Chromosomal Instability | Syk kinase | Cell Line | Cell Survival | Genes, Retinoblastoma | Intracellular Signaling Peptides and Proteins | Sequence Analysis, DNA | Children & youth | Studies | Human subjects | Xenograft Model Antitumor Assays | Protein Kinase Inhibitors | Animals | Epigenetics | Mice | Protein-Tyrosine Kinases | Retinoblastoma | Apoptosis | Retinoblastoma - genetics | Protein-Tyrosine Kinases - metabolism | Retinoblastoma - drug therapy | Intracellular Signaling Peptides and Proteins - metabolism | Genes, Retinoblastoma - genetics | Retinoblastoma - pathology | Protein-Tyrosine Kinases - genetics | Cell Death - drug effects | Intracellular Signaling Peptides and Proteins - genetics | Syk Kinase | Cell Survival - drug effects | Intracellular Signaling Peptides and Proteins - antagonists & inhibitors | Retinoblastoma Protein - deficiency | Mutation - genetics | Chromosomal Instability - genetics | Epigenesis, Genetic - genetics | Protein Kinase Inhibitors - therapeutic use | Retinoblastoma Protein - genetics | Protein Kinase Inhibitors - pharmacology | Protein-Tyrosine Kinases - antagonists & inhibitors | Gene mutations | Development and progression | Genetic aspects | Diagnosis | Research | Gene therapy | Health aspects | Risk factors | Index Medicus
Journal Article
Journal Article
Human Gene Therapy, ISSN 1043-0342, 10/2008, Volume 19, Issue 10, pp. 979 - 990
Leber congenital amaurosis (LCA) is a group of autosomal recessive blinding retinal diseases that are incurable. One molecular form is caused by mutations in... 
MEDICINE, RESEARCH & EXPERIMENTAL | VISUAL-ACUITY | CANINE MODEL | OPTICAL COHERENCE TOMOGRAPHY | VIRAL VECTORS | RETINAL-DETACHMENT REPAIR | NONHUMAN PRIMATE MODEL | CHILDHOOD BLINDNESS | THERAPY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | IMMUNE-RESPONSES | GENETICS & HEREDITY | RETINITIS-PIGMENTOSA | Animal models | Adeno-associated virus | Toxicity | Clinical trials | Retina | Genomes | Light effects | Acuity | Visual perception | Eye | Thinning | Vision | Blindness | Serotypes | Pigments | Tomography | Mutation | Gene therapy | Age | Genetic Therapy | Follow-Up Studies | Humans | Genetic Diseases, Inborn | Male | retinoid isomerohydrolase | Dependovirus | Index Medicus | Dark Adaptation | Animals | Vision, Ocular | Adolescent | Adult | Female | Genetic Vectors | Eye Proteins | cis-trans-Isomerases | Carrier Proteins | Retina - metabolism | Genetic Vectors - administration & dosage | Blindness - metabolism | Genetic Diseases, Inborn - genetics | Blindness - pathology | Genetic Diseases, Inborn - pathology | Genetic Diseases, Inborn - therapy | Blindness - congenital | Genetic Diseases, Inborn - metabolism | Blindness - therapy | Eye Proteins - genetics | Genetic Vectors - metabolism | Blindness - genetics | Genetic Vectors - genetics | Carrier Proteins - genetics | Carrier Proteins - metabolism | Eye Proteins - metabolism | Usage | Care and treatment | Genetic vectors | Causes of | Genetic aspects | Retinal diseases | Methods
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2014, Volume 111, Issue 30, pp. 11181 - 11186
Acute glaucoma is a sight-threatening condition characterized by a sudden and substantial rise in intraocular pressure (IOP) and consequent retinal ganglion... 
Glaucoma | Reperfusion | Messenger RNA | Ischemia | Toll like receptors | Central nervous system | Retina | Brain damage | Intraocular pressure | Microglia | Retinal ischemia/reperfusion injury | Cell apoptosis | BRAIN-INJURY | MICROGLIA ACTIVATION | INTERLEUKIN-1-BETA | MULTIDISCIPLINARY SCIENCES | REPERFUSION INJURY | POPULATIONS | retinal ischemia/reperfusion injury | ANGLE-CLOSURE GLAUCOMA | cell apoptosis | TOLL-LIKE RECEPTORS | CENTRAL-NERVOUS-SYSTEM | MICE | CEREBRAL-ISCHEMIA | Inflammasomes - metabolism | NLR Family, Pyrin Domain-Containing 3 Protein | Humans | Caspase 8 - metabolism | Caspase 1 - metabolism | Interleukin-1beta - genetics | Caspase 8 - genetics | Interleukin-1beta - metabolism | Apoptosis Regulatory Proteins - genetics | Eye Proteins - genetics | Glaucoma - metabolism | Disease Models, Animal | Acute Disease | Rats | Toll-Like Receptor 4 - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Nerve Tissue Proteins - genetics | Rats, Sprague-Dawley | Toll-Like Receptor 4 - metabolism | Inflammasomes - genetics | Apoptosis Regulatory Proteins - metabolism | Mice, Knockout | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Eye Proteins - metabolism | Caspase 1 - genetics | Adaptor Proteins, Signal Transducing - genetics | Mice | Adaptor Proteins, Signal Transducing - metabolism | Enzyme Activation - genetics | Glaucoma - genetics | Receptors, Cytoplasmic and Nuclear - metabolism | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 06/2008, Volume 453, Issue 7198, pp. 1107 - 1111
Polyglutamine (polyQ) diseases are a class of dominantly inherited neurodegenerative disorders caused by the expansion of a CAG repeat encoding glutamine... 
SCA1 TRANSGENIC MICE | MYOTONIC-DYSTROPHY TYPE-1 | INCLUSIONS | MUSCLEBLIND PROTEINS | POLYGLUTAMINE-INDUCED DISEASE | MULTIDISCIPLINARY SCIENCES | NUCLEAR FOCI | NEURODEGENERATION | BINDING PROTEIN | REPEATS | AGGREGATION | Up-Regulation | Disease | Peptides | RNA | Toxicity | Humans | Repressor Proteins | Nervous system | RNA-Binding Proteins | Proteins | Eye | ATXN3 protein, human | Disease Models, Animal | Drosophila Proteins | muscleblind protein, Drosophila | Drosophila | Nerve Tissue Proteins | Ribonucleic acid--RNA | polyglutamine | Trinucleotide Repeat Expansion | Nuclear Proteins | Mutant Proteins | Animals | Insects | Nerve Degeneration | MBNL1 protein, human | trinucleotide repeat diseases | Machado-Joseph disease | Neurodegenerative diseases | Ataxin | Nucleotide sequence | Coding | Neurodegeneration | polyglutamine diseases | Glutamine | Ataxin-3 | Index Medicus | Eye - pathology | RNA-Binding Proteins - genetics | Peptides - genetics | Drosophila Proteins - metabolism | RNA - genetics | Peptides - metabolism | Peptides - toxicity | RNA - toxicity | Nuclear Proteins - genetics | Repressor Proteins - metabolism | Drosophila - genetics | Eye - metabolism | Mutant Proteins - genetics | Repressor Proteins - genetics | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Trinucleotide Repeat Expansion - genetics | Drosophila - metabolism | Drosophila Proteins - genetics | RNA-Binding Proteins - metabolism | Physiological aspects | Degeneration | Research
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Ubiquitin | G protein-coupled receptors | Retinitis pigmentosa | proteasomes | Data processing | Retina | genomics | Evolution | Mutation | Genetic screening | Jeune syndrome | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus
Journal Article