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Nature Genetics, ISSN 1061-4036, 12/2012, Volume 44, Issue 12, pp. 1321 - 1325
Burkitt lymphoma is characterized by deregulation of MYC, but the contribution of other genetic mutations to the disease is largely unknown. Here, we describe... 
B-CELL LYMPHOMA | FREQUENT | AMPLIFICATION | GENETICS & HEREDITY | HUMAN EXOMES | EXPRESSION | CANCER | C-MYC ONCOGENE | SOMATIC MUTATIONS | GENOME | REVEALS | Lymphoma, Large B-Cell, Diffuse | Translocation, Genetic | Humans | Molecular Sequence Data | Genes, myc | Inhibitor of Differentiation Proteins | GTP-Binding Protein alpha Subunits, G12-G13 | ARID1A protein, human | RET protein, human | Base Sequence | Neoplasm Proteins | SALL3 protein, human | CCT6B protein, human | Genetics | Proto-Oncogene Proteins c-ret | ID3 protein, human | Glutamate Formimidoyltransferase | Burkitt Lymphoma | Sequence Analysis, DNA | FTCD protein, human | Nuclear Proteins | Membrane Proteins | DNA Helicases | PIK3IP1 protein, human | SMARCA4 protein, human | Chaperonin Containing TCP-1 | Homeodomain Proteins | Cell Line, Tumor | Lymphomas | Ammonia-Lyases | Transcription Factors | Mutation | Genome, Human | Cancer | Landscape | Nucleotide sequence | Data processing | Genomes | Myc protein | Burkitt's lymphoma | DNA | Cell cycle | Tumor suppressor genes | B-cell lymphoma | Tumors | Glutamate Formimidoyltransferase - genetics | Ammonia-Lyases - genetics | Membrane Proteins - genetics | GTP-Binding Protein alpha Subunits, G12-G13 - genetics | Inhibitor of Differentiation Proteins - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Chaperonin Containing TCP-1 - genetics | Genes, myc - genetics | Burkitt Lymphoma - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | DNA Helicases - genetics | Lymphoma, Large B-Cell, Diffuse - genetics | Proto-Oncogene Proteins c-ret - genetics | Usage | Gene mutations | Exome sequencing | Development and progression | Diagnosis | Research | Health aspects | Risk factors | Index Medicus
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 507, Issue 7492, pp. 371 - 375
Genome-wide association studies (GWAS) have reproducibly associated variants within introns of FTO with increased risk for obesity and type 2 diabetes... 
HUMAN GENOME | DATABASE | MULTIDISCIPLINARY SCIENCES | TISSUE | GENE-EXPRESSION | ARCHITECTURE | BODY-MASS INDEX | CHROMOSOME CONFORMATION | CHROMATIN INTERACTIONS | ADULT OBESITY | VERTEBRATE | Brain | Body Weight | Oxo-Acid-Lyases | FTO protein, mouse | Humans | Male | Thinness | Genomes | Hypothalamus | Mixed Function Oxygenases | Proteins | FTO protein, human | IRX3 protein, human | Genes, Dominant | Rodents | Basal Metabolism | Diabetes Mellitus, Type 2 | Adipose Tissue | Body Mass Index | Obesity | Promoter Regions, Genetic | Introns | Zebrafish | Artificial chromosomes | Gene expression | Weight control | Phenotype | Animals | Diet | Homeodomain Proteins | Irx3 protein, mouse | Mice | Polymorphism, Single Nucleotide | Transcription Factors | Basal Metabolism - genetics | Diabetes Mellitus, Type 2 - genetics | Homeodomain Proteins - metabolism | Transcription Factors - deficiency | Alpha-Ketoglutarate-Dependent Dioxygenase FTO | Zebrafish - embryology | Body Weight - genetics | Obesity - genetics | Promoter Regions, Genetic - genetics | Brain - metabolism | Adipose Tissue - metabolism | Oxo-Acid-Lyases - genetics | Introns - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Proteins - genetics | Transcription Factors - metabolism | Thinness - genetics | Hypothalamus - metabolism | Polymorphism, Single Nucleotide - genetics | Mixed Function Oxygenases - genetics | Genes, Dominant - genetics | Genome-wide association studies | Homeobox genes | Body weight | Genomics | Genetic aspects | Single nucleotide polymorphisms | Properties | Homeotic genes | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 03/2011, 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 | Blood coagulation | Translation | Multiple myeloma | Clinical trials | Data processing | Genomes | Malignancy | Signal transduction | NF- Kappa B protein | Histones | DNA methylation | Plasma cells | Mutation | Methylation | Cancer | Protein Biosynthesis | Pathogenesis | Exons | Genomics | Humans | Open Reading Frames | Homeostasis | Molecular Sequence Data | Kinases | DIS3 protein, human | Proteins | NF-kappa B | DNA Mutational Analysis | Blood Coagulation | Genetics | Transcription, Genetic | Proto-Oncogene Proteins B-raf | Oncogenes | Multiple Myeloma | Amino Acid Sequence | RNA Processing, Post-Transcriptional | Signal Transduction | homeobox protein HOXA9 | Models, Molecular | Ribonucleases | BRAF protein, human | Homeodomain Proteins | DNA Repair | CpG Islands | Protein Conformation | Exosome Multienzyme Ribonuclease Complex | Genome, Human | Mass spectrometry | Ribonucleases - genetics | Ribonucleases - chemistry | NF-kappa B - metabolism | DNA Repair - genetics | Multiple Myeloma - drug therapy | Protein Biosynthesis - genetics | Multiple Myeloma - enzymology | Proto-Oncogene Proteins B-raf - metabolism | Oncogenes - genetics | 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 | Histones - metabolism | Transcription, Genetic - genetics | Homeostasis - genetics | Multiple Myeloma - genetics | Usage | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Methods | Index Medicus
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 Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 03/2015, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1), up to half of children with... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Developmental disabilities | Children & youth | Rare Diseases - genetics | Humans | 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 | Index Medicus
Journal Article
Nature Methods, ISSN 1548-7091, 05/2009, Volume 6, Issue 5, pp. 363 - 369
Induced pluripotent stem cells (iPSCs) have been generated from somatic cells by transgenic expression of Oct4 (Pou5f1), Sox2, Klf4 and Myc. A major difficulty... 
DEFINED FACTORS | BIOCHEMICAL RESEARCH METHODS | DYSPLASIA | HUMAN FIBROBLASTS | KERATINOCYTES | INDUCTION | DIFFERENTIATION | HUMAN SOMATIC-CELLS | EFFICIENT | EXPRESSION | VECTORS | Transposons | transposase | Oct-4 protein | Genomes | Tumorigenicity | Embryo fibroblasts | Negative selection | Myc protein | Gene expression | Regeneration | KLF4 protein | Somatic cells | Stem cells | Chimeras | teratoma | Inhibitory postsynaptic potentials | Octamer Transcription Factor-3 | Teratoma | GKLF protein | Proto-Oncogene Proteins c-myc | Embryo, Mammalian | Humans | Repressor Proteins | Transposases | Cell Dedifferentiation | Alkaline Phosphatase | RNA-Binding Proteins | Moths | Dppa3 protein, mouse | Lin-28 protein, mouse | Pluripotent Stem Cells | Transfection | Rodents | Research methodology | Fibroblasts | Cell Differentiation | Valproic Acid | SOXB1 Transcription Factors | Transgenes | Pou5f1 protein, mouse | DNA Transposable Elements | Kruppel-Like Transcription Factors | Nanog protein, mouse | Animals | Homeodomain Proteins | Sox2 protein, mouse | Genetic engineering | Mice | Genetic Vectors | Chimera | Gene Expression | Nanog Homeobox Protein | Index Medicus | RNA-Binding Proteins - genetics | Gene Expression - genetics | Homeodomain Proteins - metabolism | Alkaline Phosphatase - metabolism | Valproic Acid - pharmacology | Embryo, Mammalian - metabolism | SOXB1 Transcription Factors - metabolism | Moths - genetics | Octamer Transcription Factor-3 - genetics | Chimera - embryology | SOXB1 Transcription Factors - genetics | Kruppel-Like Transcription Factors - metabolism | Transposases - genetics | DNA Transposable Elements - genetics | Cell Differentiation - physiology | Pluripotent Stem Cells - cytology | Cell Dedifferentiation - drug effects | Repressor Proteins - genetics | Proto-Oncogene Proteins c-myc - metabolism | Genetic Vectors - genetics | Pluripotent Stem Cells - metabolism | Teratoma - pathology | Embryo, Mammalian - cytology | Fibroblasts - drug effects | Octamer Transcription Factor-3 - metabolism | Pluripotent Stem Cells - transplantation | Fibroblasts - cytology | Proto-Oncogene Proteins c-myc - genetics | Cell Dedifferentiation - genetics | Chimera - metabolism | Kruppel-Like Transcription Factors - genetics | RNA-Binding Proteins - metabolism | Physiological aspects | Nuclear reprogramming | Research
Journal Article
Nature, ISSN 0028-0836, 01/2008, Volume 451, Issue 7175, pp. 141 - 146
Pluripotency pertains to the cells of early embryos that can generate all of the tissues in the organism. Embryonic stem cells are embryo- derived cell lines... 
SURVIVAL | MULTIDISCIPLINARY SCIENCES | EMBRYONIC STEM-CELLS | REGIONS | GENERATION | NANOG | DIFFERENTIATION | INDUCTION | SELECTION | FIBROBLASTS | LINES | Cell culture | Octamer Transcription Factor-3 | Teratoma | GKLF protein | Biomedical research | Proto-Oncogene Proteins c-myc | MYC protein, human | SOX2 protein, human | Humans | NANOG protein, human | Transplantation, Heterologous | Gene Expression Profiling | POU5F1 protein, human | DNA Methylation | Pluripotent Stem Cells | Cell Shape | Fibroblasts | Adult | Fetus | Cell Differentiation | SOXB1 Transcription Factors | Infant, Newborn | DNA-Binding Proteins | Promoter Regions, Genetic | HMGB Proteins | Cells, Cultured | Gene expression | Embryos | Kruppel-Like Transcription Factors | Animals | Cellular biology | Homeodomain Proteins | Stem cells | Sox2 protein, mouse | Genetic engineering | Mice | Transcription Factors | Embryonic Stem Cells | Neonates | Transcription factors | Fetuses | Oct-4 protein | Embryo cells | Myc protein | KLF4 protein | Biopsy | Somatic cells | Skin | teratoma | Nanog Homeobox Protein | Index Medicus | Embryonic Stem Cells - metabolism | Embryonic Stem Cells - cytology | Promoter Regions, Genetic - genetics | Octamer Transcription Factor-3 - genetics | Kruppel-Like Transcription Factors - metabolism | HMGB Proteins - genetics | HMGB Proteins - metabolism | Pluripotent Stem Cells - cytology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Proto-Oncogene Proteins c-myc - metabolism | Homeodomain Proteins - genetics | Fetus - cytology | Pluripotent Stem Cells - metabolism | Transcription Factors - metabolism | Teratoma - pathology | Octamer Transcription Factor-3 - metabolism | Pluripotent Stem Cells - transplantation | Fibroblasts - cytology | Proto-Oncogene Proteins c-myc - genetics | Kruppel-Like Transcription Factors - genetics | Physiological aspects | Genetic aspects | Research | DNA binding proteins
Journal Article