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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 neuroscience, ISSN 1546-1726, 2012, Volume 15, Issue 11, pp. 1488 - 1497
... and that encode proteins that are essential... 
NEURODEGENERATIVE DISEASE | GENE | AMYOTROPHIC-LATERAL-SCLEROSIS | FAMILY PROTEINS | FUS PATHOLOGY | MUTATIONS | FRONTOTEMPORAL LOBAR DEGENERATION | BINDING | NEUROSCIENCES | BRAIN | NASCENT TRANSCRIPTION | RNA, Small Interfering - genetics | Protein Binding - genetics | Oligonucleotide Array Sequence Analysis | Humans | tau Proteins - metabolism | Gene Expression Profiling | RNA, Messenger - metabolism | Kv Channel-Interacting Proteins - metabolism | Brain - metabolism | Frontotemporal Dementia - metabolism | RNA Splicing - genetics | Frontotemporal Dementia - genetics | RNA-Binding Protein FUS - deficiency | Amyotrophic Lateral Sclerosis - genetics | Cell Cycle Proteins - metabolism | Ubiquitin-Protein Ligases - metabolism | RNA-Binding Protein FUS - genetics | Mice, Knockout | Motor Neurons - metabolism | Amyotrophic Lateral Sclerosis - pathology | Shal Potassium Channels - metabolism | Brain - pathology | Mice | Neurofilament Proteins - metabolism | RNA, Small Interfering - metabolism | Immunoprecipitation | Spinal Cord - metabolism | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | tau Proteins - genetics | Cell Cycle Proteins - genetics | Female | RNA Precursors - metabolism | Excitatory Amino Acid Transporter 2 - genetics | Membrane Proteins - metabolism | Frontotemporal Dementia - pathology | Gene Expression Regulation - genetics | Mice, Inbred C57BL | RNA, Messenger - genetics | RNA Precursors - genetics | Protein Structure, Tertiary - genetics | RNA-Binding Protein FUS - metabolism | DNA-Binding Proteins - genetics | Excitatory Amino Acid Transporter 2 - metabolism | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Histone-Lysine N-Methyltransferase - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Neural Cell Adhesion Molecules - metabolism | Neural Stem Cells - metabolism | Cell Line, Transformed | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Messenger RNA | Health aspects
Journal Article
by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and The Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2014, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Repressor Proteins | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth
Journal Article
eLife, ISSN 2050-084X, 2015, Volume 4, Issue 4, pp. 1 - 44
The AAA+ family ATPase TRIP13 is a key regulator of meiotic recombination and the spindle assembly checkpoint, acting on signaling proteins of the conserved HORMA domain family... 
N-Ethylmaleimide-Sensitive Proteins - metabolism | Mad2 Proteins - metabolism | Molecular Chaperones - metabolism | Caenorhabditis elegans Proteins - chemistry | Humans | Crystallography, X-Ray | Phylogeny | N-Ethylmaleimide-Sensitive Proteins - genetics | Amino Acid Sequence | Gene Expression | Caenorhabditis elegans - genetics | Cell Cycle Proteins - metabolism | Molecular Chaperones - genetics | Adenosine Triphosphatases - metabolism | Models, Molecular | Recombinant Proteins - chemistry | Nuclear Proteins - chemistry | Caenorhabditis elegans - classification | Escherichia coli - genetics | Adenosine Triphosphatases - genetics | Escherichia coli Proteins - chemistry | Caenorhabditis elegans Proteins - genetics | Caenorhabditis elegans - enzymology | Adaptor Proteins, Signal Transducing - chemistry | Endopeptidase Clp - chemistry | M Phase Cell Cycle Checkpoints | Caenorhabditis elegans Proteins - metabolism | Molecular Sequence Data | Molecular Chaperones - chemistry | Cell Cycle Proteins - chemistry | Spindle Apparatus - genetics | Escherichia coli - metabolism | Cell Cycle Proteins - genetics | Carrier Proteins - chemistry | Nuclear Proteins - genetics | N-Ethylmaleimide-Sensitive Proteins - chemistry | Protein Structure, Tertiary | Recombinant Proteins - metabolism | ATPases Associated with Diverse Cellular Activities | Endopeptidase Clp - genetics | Escherichia coli Proteins - metabolism | Nuclear Proteins - metabolism | Endopeptidase Clp - metabolism | Mad2 Proteins - chemistry | Recombinant Proteins - genetics | Sequence Homology, Amino Acid | Carrier Proteins - genetics | Sequence Alignment | Animals | Carrier Proteins - metabolism | Adaptor Proteins, Signal Transducing - genetics | Mad2 Proteins - genetics | Escherichia coli Proteins - genetics | Protein Binding | Adenosine Triphosphatases - chemistry | Adaptor Proteins, Signal Transducing - metabolism | Spindle Apparatus - enzymology | Proteins | Medical research | Recombination | Software | Meiosis | Mammals | Chromosomes | DNA repair | Deoxyribonucleic acid--DNA | Adenosine triphosphatase | BASIC BIOLOGICAL SCIENCES
Journal Article
Cell (Cambridge), ISSN 0092-8674, 2006, Volume 125, Issue 5, pp. 873 - 886
.... This silencing depends on a functional RNAi pathway, requires the heterochromatin proteins, Swi6/HP1, Clr4/Suv39h, and Sir2, and is accompanied by the generation of ura4... 
H3 LYSINE-9 METHYLATION | DOUBLE-STRANDED-RNA | FISSION YEAST | EPIGENETIC CONTROL | HISTONE H3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | INTERFERENCE | MECHANISMS | CHROMOSOME SEGREGATION | POLYMERASE-II | SCHIZOSACCHAROMYCES-POMBE | CELL BIOLOGY | RNA, Small Interfering - genetics | RNA-Binding Proteins - genetics | Exoribonucleases - genetics | Methyltransferases - metabolism | RNA-Induced Silencing Complex - genetics | Methyltransferases - genetics | Schizosaccharomyces - genetics | DNA Methylation | Schizosaccharomyces pombe Proteins - metabolism | Cell Cycle Proteins - genetics | Gene Expression Regulation, Fungal - genetics | RNA Interference - physiology | Sirtuins - genetics | Schizosaccharomyces pombe Proteins - genetics | Chromosomal Proteins, Non-Histone - metabolism | Cell Cycle Proteins - metabolism | RNA Precursors - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | Carrier Proteins - metabolism | Heterochromatin - genetics | Histones - metabolism | Sirtuins - metabolism | Exoribonucleases - metabolism | Regulatory Elements, Transcriptional - genetics | Histones | Genetic research | Gene silencing | Research | Chromatin | Genetic engineering | RNA | Methylation | Lysine | Analysis | Sirtuins | Gene Expression Regulation, Fungal | RNA Precursors | Exoribonucleases | Schizosaccharomyces pombe Proteins | Chromosomal Proteins, Non-Histone | RNA-Binding Proteins | Life Sciences | Heterochromatin | Methyltransferases | RNA Interference | Regulatory Elements, Transcriptional | Genetics | RNA, Small Interfering | Cell Cycle Proteins | RNA-Induced Silencing Complex | Schizosaccharomyces | Carrier Proteins
Journal Article
2000, Frontiers in molecular biology, ISBN 9780199637614, Volume 31, xix, 314
Book
Cancer Cell, ISSN 1535-6108, 2010, Volume 17, Issue 6, pp. 609 - 621
MLL is involved in chromosomal rearrangements that generate fusion proteins with deregulated transcriptional activity... 
CELLCYCLE | DNA | HUMDISEASE | RNA-POLYMERASE-II | CHROMOSOMAL TRANSLOCATIONS | TARGET GENES | STEM-CELLS | HISTONE H2B | ONCOLOGY | H3 METHYLATION | TUMOR-SUPPRESSOR PROTEIN | LEUKEMIA | EXPRESSION | TRANSCRIPTIONAL ELONGATION | CELL BIOLOGY | Myeloid Cells - cytology | Myeloid-Lymphoid Leukemia Protein - metabolism | Oncogene Proteins, Fusion - metabolism | Transcriptional Activation - genetics | Protein Interaction Domains and Motifs - physiology | Humans | Leukemia - metabolism | Phosphoproteins - metabolism | DNA-Binding Proteins - metabolism | Cell Differentiation - genetics | Transfection | RNA Interference | Cell Transformation, Neoplastic - genetics | Tumor Suppressor Proteins - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Leukemia - genetics | Recombinant Proteins - metabolism | Cell Line | Tumor Suppressor Proteins - metabolism | Sequence Deletion - physiology | Mice, Inbred C57BL | Gene Expression Regulation | Nuclear Proteins - metabolism | Recombinant Proteins - genetics | DNA - metabolism | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Cell Transformation, Neoplastic - metabolism | Down-Regulation - genetics | Homeodomain Proteins - genetics | Transcription Factors - metabolism | Carrier Proteins - genetics | Transcription, Genetic - physiology | Animals | Carrier Proteins - metabolism | Models, Biological | Myeloid-Lymphoid Leukemia Protein - genetics | Oncogene Proteins, Fusion - genetics | HL-60 Cells | Myeloid Cells - metabolism | Mice | HeLa Cells | Myeloid Ecotropic Viral Integration Site 1 Protein | Cell Transformation, Neoplastic - pathology | Protein Binding - physiology | Proteins | RNA | Gene expression
Journal Article
EMBO reports, ISSN 1469-221X, 11/2017, Volume 18, Issue 11, pp. 2051 - 2066
Endocytic processes are facilitated by both curvature‐generating BAR‐domain proteins and the coordinated polymerization of actin filaments... 
tau | N‐BAR protein Bin1 | Alzheimer's disease | actin binding | genetic risk factor | N-BAR protein Bin1 | PROTEIN | ALZHEIMERS-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CROSS-LINKING | FILAMENT TURNOVER | TAU PATHOLOGY | CELL BIOLOGY | SKELETAL-MUSCLE | STRUCTURAL BASIS | SYNAPTIC VESICLE ENDOCYTOSIS | MEMBRANE CURVATURE | SH3 DOMAIN | Tauopathies - genetics | Humans | Actins - metabolism | Tauopathies - pathology | tau Proteins - metabolism | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Actins - genetics | Drosophila melanogaster - metabolism | Protein Isoforms - metabolism | tau Proteins - genetics | Tumor Suppressor Proteins - genetics | Cloning, Molecular | Escherichia coli - metabolism | Protein Interaction Domains and Motifs | Nuclear Proteins - genetics | Binding Sites | Actin Cytoskeleton - genetics | Disease Models, Animal | Recombinant Proteins - metabolism | Gene Expression | Tumor Suppressor Proteins - metabolism | Actin Cytoskeleton - metabolism | Genetic Vectors - chemistry | Gene Expression Regulation | Genetic Vectors - metabolism | Nuclear Proteins - metabolism | Recombinant Proteins - genetics | Transcription Factors - genetics | Transcription Factors - metabolism | Carrier Proteins - genetics | Tauopathies - metabolism | Animals | Carrier Proteins - metabolism | Escherichia coli - genetics | Adaptor Proteins, Signal Transducing - genetics | Protein Binding | Drosophila Proteins - genetics | Adaptor Proteins, Signal Transducing - metabolism | Protein Isoforms - genetics | Membranes | Neurodegenerative diseases | Drosophila | Health risks | Polymerization | Rods | Bundles | Risk factors | Membrane proteins | Bundling | Proteins | Depolymerization | Insects | Tau protein | Filaments | Neurodegeneration | Actin | Isoforms | BAR protein | Cytoskeleton | Alzheimers disease | Curvature | Neuroscience | Cell Adhesion, Polarity & Cytoskeleton
Journal Article
The Journal of biological chemistry, ISSN 1083-351X, 2017, Volume 292, Issue 31, pp. 12754 - 12763
..., and the antiviral response. Genetic and cell biological studies over almost 2 decades have revealed some 30 proteins involved in the synthesis of cellular [2Fe-2S] and [4Fe-4S... 
4FE-4S CLUSTERS | acyl carrier protein (ACP) | cysteine desulfurase | fatty acid metabolism | BIOCHEMISTRY & MOLECULAR BIOLOGY | MONOTHIOL GLUTAREDOXINS FUNCTION | FUNCTIONAL-CHARACTERIZATION | glutaredoxin | mitochondrial disease | frataxin | ACYL CARRIER PROTEIN | ferredoxin | metal biology | chaperone | INTERACTING PROTEIN | ASSEMBLY MACHINERY | AZOTOBACTER-VINELANDII (NIF)ISCA | FE-S PROTEINS | SCAFFOLD PROTEIN | lipoic acid | Mitochondria - enzymology | Adrenodoxin - genetics | Species Specificity | Humans | Protein Multimerization | Adrenodoxin - metabolism | Iron-Sulfur Proteins - genetics | Iron-Binding Proteins - chemistry | Mitochondrial Proteins - genetics | Iron-Sulfur Proteins - chemistry | Iron-Binding Proteins - metabolism | Mitochondrial Proteins - metabolism | Apoenzymes - metabolism | Sulfurtransferases - chemistry | Acyl Carrier Protein - metabolism | Models, Molecular | Sulfurtransferases - genetics | Mitochondria - metabolism | Saccharomyces cerevisiae Proteins - genetics | Protein Folding | Protein Transport | Gene Expression Regulation, Enzymologic | Acyl Carrier Protein - chemistry | Animals | Models, Biological | Acyl Carrier Protein - genetics | Apoenzymes - genetics | Mitochondrial Proteins - chemistry | Saccharomyces cerevisiae Proteins - metabolism | Apoenzymes - chemistry | Adrenodoxin - chemistry | Iron-Binding Proteins - genetics | Protein Conformation | Iron-Sulfur Proteins - metabolism | Sulfurtransferases - metabolism | Saccharomyces cerevisiae Proteins - chemistry | Minireviews
Journal Article