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Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4774 - 10
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from... 
CUTANEOUS MALIGNANT-MELANOMA | METAANALYSIS | SUN EXPOSURE | VARIANTS | MULTIDISCIPLINARY SCIENCES | GENETIC INFLUENCES | PREVALENCE | MELANOCYTIC NEVI | CANCER | TANNING RESPONSE | GENOME-WIDE ASSOCIATION | Cytochrome P-450 CYP1B1 - genetics | Humans | Stem Cell Factor - genetics | RNA-Binding Proteins | RNA - genetics | Telomere-Binding Proteins - genetics | Telomerase - genetics | Nevus, Pigmented - genetics | Group VI Phospholipases A2 - genetics | Melanoma - genetics | Genetic Pleiotropy - genetics | Nuclear Proteins - genetics | Microfilament Proteins - genetics | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Guanine Nucleotide Exchange Factors - genetics | Histone Deacetylases - genetics | Interferon Regulatory Factors - genetics | Repressor Proteins - genetics | Nerve Tissue Proteins - genetics | Carrier Proteins - genetics | Skin Neoplasms - genetics | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Receptors, G-Protein-Coupled - genetics | Bivariate analysis | Pathways | Interferon regulatory factor 4 | Genes | Melanoma | Nevus | Risk | Skin | Single-nucleotide polymorphism | Loci | PLA2G6 protein, human | risk assessment | cutaneous melanoma | Interferon Regulatory Factors | RNA | Medical and Health Sciences | KITLG protein, human | single nucleotide polymorphism | Repressor Proteins | carrier protein | repressor protein | Group VI Phospholipases A2 | Stn1 protein, human | pigmented nevus | G protein coupled receptor | genetic risk | genetic predisposition | skin tumor | PPARGC1B protein, human | telomerase RNA | Carrier Proteins | Basic Medicine | peroxisome proliferator activated receptor gamma coactivator 1beta | nerve protein | biology | gene | HDAC4 protein, human | Receptors, G-Protein-Coupled | Caucasian | melanoma | European Continental Ancestry Group | Genetic Pleiotropy | Nerve Tissue Proteins | histone deacetylase 4 | Guanine Nucleotide Exchange Factors | Nuclear Proteins | Clinical Medicine | Skin Neoplasms | Cytochrome P-450 CYP1B1 | interferon regulatory factor | DOCK8 protein, human | gene expression | cytochrome P450 1B1 | United States | meta analysis | Medicin och hälsovetenskap | Article | skin | pleiotropy | Klinisk medicin | nuclear protein | Medicinsk genetik | Medical Genetics | Netherlands | telomerase | genetics | human | stem cell factor | GPRC5A protein, human | phospholipase A2 group VI | telomere binding protein | meta-analysis | United Kingdom | Histone Deacetylases | interferon regulatory factor 4 | actin binding protein | SYNE2 protein, human | histone deacetylase | Telomere-Binding Proteins | gene locus | guanine nucleotide exchange factor | Microfilament Proteins | MicroRNAs | Nevus, Pigmented | genome-wide association study | Medicinska och farmaceutiska grundvetenskaper | microRNA | meta analysis (topic) | MIRN146 microRNA, human | cancer | Australia | Cancer and Oncology | CYP1B1 protein, human | interferon regulatory factor-4 | telomere homeostasis | Cancer och onkologi
Journal Article
Nature (London), ISSN 1476-4687, 2011, Volume 471, Issue 7339, pp. 467 - 472
Multiple myeloma is an incurable malignancy of plasma cells, and its pathogenesis is poorly understood. Here we report the massively parallel sequencing of 38... 
PATHOGENESIS | B-CELL LYMPHOMA | BLIMP-1 | GENE | MULTIDISCIPLINARY SCIENCES | STRESS-RESPONSE | EXOSOME | CLASSIFICATION | DIFFERENTIATION | HUMAN CANCER | SOMATIC MUTATIONS | Ribonucleases - genetics | Ribonucleases - chemistry | Genomics | Humans | Molecular Sequence Data | NF-kappa B - metabolism | DNA Repair - genetics | Multiple Myeloma - drug therapy | DNA Mutational Analysis | Protein Biosynthesis - genetics | Multiple Myeloma - enzymology | Proto-Oncogene Proteins B-raf - metabolism | Amino Acid Sequence | Oncogenes - genetics | Models, Molecular | Exons - genetics | Signal Transduction - genetics | Multiple Myeloma - metabolism | Mutation - genetics | Open Reading Frames - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Proto-Oncogene Proteins B-raf - antagonists & inhibitors | RNA Processing, Post-Transcriptional - genetics | Proto-Oncogene Proteins B-raf - genetics | CpG Islands - genetics | Blood Coagulation - genetics | Protein Conformation | Histones - metabolism | Transcription, Genetic - genetics | Exosome Multienzyme Ribonuclease Complex | Methylation | Homeostasis - genetics | Multiple Myeloma - genetics | Usage | Multiple myeloma | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Methods | Cancer | Proteins | Pathogenesis | Homeostasis | Genetics | Genomes | Mutation | Kinases | Mass spectrometry
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2008, Volume 31, Issue 2, pp. 230 - 239
Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | ENERGY HOMEOSTASIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | MAGNETIC-RESONANCE | CLINICAL CHARACTERISTICS | RAT-BRAIN | TRANSPORTER GENE SLC6A8 | INBORN ERROR | Glycine - analogs & derivatives | Glycine - metabolism | Prognosis | Guanidinoacetate N-Methyltransferase - genetics | Humans | Brain - enzymology | Amidinotransferases - genetics | Developmental Disabilities - genetics | Intellectual Disability - genetics | Membrane Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Movement Disorders - enzymology | Intellectual Disability - enzymology | Creatine - deficiency | Amidinotransferases - deficiency | Genetic Predisposition to Disease | Language Development Disorders - genetics | Speech Disorders - genetics | Language Development Disorders - enzymology | Phenotype | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Speech Disorders - enzymology | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Creatine | Central nervous system
Journal Article
by Flannick, Jason and Thorleifsson, Gudmar and Beer, Nicola L and Jacobs, Suzanne B R and Grarup, Niels and Burtt, Noël P and Mahajan, Anubha and Fuchsberger, Christian and Atzmon, Gil and Benediktsson, Rafn and Blangero, John and Bowden, Don W and Brandslund, Ivan and Brosnan, Julia and Burslem, Frank and Chambers, John and Cho, Yoon Shin and Christensen, Cramer and Douglas, Desirée A and Duggirala, Ravindranath and Dymek, Zachary and Farjoun, Yossi and Fennell, Timothy and Fontanillas, Pierre and Forsén, Tom and Gabriel, Stacey and Glaser, Benjamin and Gudbjartsson, Daniel F and Hanis, Craig and Hansen, Torben and Hreidarsson, Astradur B and Hveem, Kristian and Ingelsson, Erik and Isomaa, Bo and Johansson, Stefan and Jørgensen, Torben and Jørgensen, Marit Eika and Kathiresan, Sekar and Kong, Augustine and Kooner, Jaspal and Kravic, Jasmina and Laakso, Markku and Lee, Jong-Young and Lind, Lars and Lindgren, Cecilia M and Linneberg, Allan and Masson, Gisli and Meitinger, Thomas and Mohlke, Karen L and Molven, Anders and Morris, Andrew P and Potluri, Shobha and Rauramaa, Rainer and Ribel-Madsen, Rasmus and Richard, Ann-Marie and Rolph, Tim and Salomaa, Veikko and Segrè, Ayellet V and Skärstrand, Hanna and Steinthorsdottir, Valgerdur and Stringham, Heather M and Sulem, Patrick and Tai, E Shyong and Teo, Yik Ying and Teslovich, Tanya and Thorsteinsdottir, Unnur and Trimmer, Jeff K and Tuomi, Tiinamaija and Tuomilehto, Jaakko and Vaziri-Sani, Fariba and Voight, Benjamin F and Wilson, James G and Boehnke, Michael and McCarthy, Mark I and Njølstad, Pål R and Pedersen, Oluf and Groop, Leif and Cox, David R and Stefansson, Kari and Altshuler, David and Go-T2D Consortium and T2D-GENES Consortium and T2D-Genes Consortium
Nature genetics, ISSN 1546-1718, 2014, Volume 46, Issue 4, pp. 357 - 363
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 792 - 799
Journal Article
American journal of human genetics, ISSN 0002-9297, 2012, Volume 90, Issue 5, pp. 796 - 808
Journal Article
Journal of molecular and cellular cardiology, ISSN 0022-2828, 2015, Volume 89, Issue Pt A, pp. 98 - 112
Journal Article
PloS one, ISSN 1932-6203, 2011, Volume 6, Issue 7, p. e22143
Copper is an essential cofactor for many enzymes but at high concentrations it is toxic for the cell. Copper ion concentrations >= 50 mu M inhibited growth of... 
MYCOBACTERIUM-TUBERCULOSIS | RESPIRATORY-CHAIN | HOMEOSTASIS | TRANSCRIPTIONAL REGULATORS | MULTIDISCIPLINARY SCIENCES | ESCHERICHIA-COLI | GROWTH | GENE-EXPRESSION | COMPARATIVE GENOMIC ANALYSES | IRON | MOLECULAR ANALYSIS | Protein Kinases - metabolism | Corynebacterium glutamicum - drug effects | Protein Kinases - genetics | Corynebacterium glutamicum - genetics | DNA, Bacterial - metabolism | Genes, Bacterial - genetics | Nucleotide Motifs - genetics | Adaptation, Physiological - drug effects | Corynebacterium glutamicum - cytology | Phosphorylation - genetics | Adaptation, Physiological - genetics | Base Sequence | Stress, Physiological - drug effects | Homeostasis - drug effects | Phosphorylation - drug effects | Copper - toxicity | Binding Sites | Stress, Physiological - genetics | Bacterial Proteins - genetics | Signal Transduction - genetics | Corynebacterium glutamicum - physiology | Gene Expression Regulation, Bacterial - drug effects | Gene Expression Regulation, Bacterial - genetics | DNA, Bacterial - genetics | Histidine Kinase | Signal Transduction - drug effects | Bacterial Proteins - metabolism | Mutation | Homeostasis - genetics | Oxidases | DNA microarrays | RNA | Analysis | Genes | Genomics | Cellular signal transduction | Genetic transcription | Adenosine triphosphatase | Cytochrome | Transcription | Homeostasis | Genomes | Glucose | Kinases | DNA repair | Proteins | Signal transduction | Reporter gene | Histidine | Clonal deletion | Bacteria | Copper | Deoxyribonucleic acid--DNA | Stresses | Gene clusters | RNA polymerase | Metabolism | Gene expression | Heavy metals | Stress | Histidine kinase | Multicopper oxidase | Tuberculosis | Electrophoretic mobility | Transduction | Deoxyribonucleic acid | DNA
Journal Article