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Nature, ISSN 0028-0836, 08/2012, Volume 488, Issue 7409, pp. 106 - 110
Medulloblastomas are themost commonmalignant brain tumours in children(1). Identifying and understanding the genetic events that drive these tumours is... 
COMPLEX | STRUCTURAL BASIS | LANDSCAPE | CHILDHOOD | MULTIDISCIPLINARY SCIENCES | GENES | Pediatrics | Hybrids | Statistical analysis | Wnt protein | Transcription | catenin | Brain tumors | Mutation rates | Tcf protein | p53 protein | Promoters | Signal transduction | histone methyltransferase | Coding | Medulloblastoma | Children | copy number | RNA helicase | Transcription Factors - chemistry | Humans | Hedgehog Proteins - metabolism | Wnt Proteins - metabolism | Promoter Regions, Genetic - genetics | Tumor Suppressor Protein p53 - genetics | TCF Transcription Factors - metabolism | Patched Receptors | Cerebellar Neoplasms - classification | DEAD-box RNA Helicases - metabolism | Medulloblastoma - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Child | DEAD-box RNA Helicases - chemistry | DNA Helicases - genetics | Intracellular Signaling Peptides and Proteins - genetics | DNA Helicases - chemistry | Histone-Lysine N-Methyltransferase - genetics | Signal Transduction | Models, Molecular | Repressor Proteins - genetics | Proto-Oncogene Proteins - genetics | Protein Structure, Tertiary - genetics | Cerebellar Neoplasms - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nuclear Proteins - chemistry | beta Catenin - metabolism | Genome, Human - genetics | beta Catenin - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Histone-Lysine N-Methyltransferase - metabolism | LIM Domain Proteins - genetics | Medulloblastoma - classification | Patched-1 Receptor | Receptors, Cell Surface - genetics | Physiological aspects | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Metastasis | DNA sequencing | Cancer | 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
Oncogene, ISSN 0950-9232, 01/2016, Volume 35, Issue 1, pp. 12 - 21
Glioblastoma is the most aggressive primary brain tumor in adults and due to the invasive nature cannot be completely removed. The WNT inhibitory factor 1... 
GLIOMA-CELL LINES | STEM-CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | SELF-RENEWAL | BETA-CATENIN | CELL BIOLOGY | COLON-CANCER | ONCOLOGY | PATHWAY | COLORECTAL-CANCER | GENETICS & HEREDITY | TUMOR-SUPPRESSOR | EXPRESSION | TYROSINE KINASE ROR2 | Oncology | Ribonucleic acid--RNA | Brain cancer | Cell adhesion & migration | Cell proliferation | Adenocarcinoma | Phosphorylation | Wnt protein | Calcium | non-coding RNA | Transcription | Brain tumors | Lung | Glioblastoma | Data processing | Gene expression | Signal transduction | Protein kinase | Tumor suppressor genes | glioblastoma cells | Cell migration | Humans | Brain Neoplasms - pathology | Gene Expression Regulation, Neoplastic | Wnt-5a Protein | Wnt Proteins - metabolism | Brain Neoplasms - metabolism | Cell Movement - physiology | Heterografts | Wnt Proteins - genetics | Glioblastoma - genetics | Glioblastoma - metabolism | Wnt Signaling Pathway | Proto-Oncogene Proteins - metabolism | Signal Transduction | Down-Regulation | Cell Proliferation - physiology | Brain Neoplasms - genetics | Repressor Proteins - genetics | Proto-Oncogene Proteins - genetics | RNA, Long Noncoding - genetics | Animals | Repressor Proteins - biosynthesis | Mice, Nude | Glioblastoma - pathology | Adaptor Proteins, Signal Transducing - genetics | Cell Line, Tumor | Adaptor Proteins, Signal Transducing - biosynthesis | Mice | RNA, Long Noncoding - metabolism | Cellular proteins | Development and progression | Genetic aspects | Cellular signal transduction | Genetic regulation | Glioblastoma multiforme | Health aspects | Index Medicus
Journal Article
by Kool, Marcel and Jones, David T.W and Jäger, Natalie and Northcott, Paul A and Pugh, Trevor J and Hovestadt, Volker and Piro, Rosario M and Esparza, L. Adriana and Markant, Shirley L and Remke, Marc and Milde, Till and Bourdeaut, Franck and Ryzhova, Marina and Sturm, Dominik and Pfaff, Elke and Stark, Sebastian and Hutter, Sonja and Şeker-Cin, Huriye and Johann, Pascal and Bender, Sebastian and Schmidt, Christin and Schmidt, Sabine and Rausch, Tobias and Shih, David and Reimand, Jüri and Sieber, Laura and Wittmann, Andrea and Linke, Linda and Witt, Olaf and Witt, Hendrik and Weber, Ursula D and Zapatka, Marc and König, Rainer and Beroukhim, Rameen and Bergthold, Guillaume and van Sluis, Peter and Volckmann, Richard and Koster, Jan and Versteeg, Rogier and Wolf, Stephan and Lawerenz, Chris and Bartholomae, Cynthia C and von Kalle, Christof and Unterberg, Andreas and Herold-Mende, Christel and Hofer, Silvia and Kulozik, Andreas E and von Deimling, Andreas and Scheurlen, Wolfram and Felsberg, Jörg and Reifenberger, Guido and Hasselblatt, Martin and Crawford, John R and Grant, Gerald A and Jabado, Nada and Perry, Arie and Cowdrey, Cynthia and Croul, Sydney and Zadeh, Gelareh and Korbel, Jan O and Doz, Francois and Delattre, Olivier and Bader, Gary D and McCabe, Martin G and Collins, V. Peter and Kieran, Mark W and Cho, Yoon-Jae and Pomeroy, Scott L and Brors, Benedikt and Taylor, Michael D and Schüller, Ulrich and Korshunov, Andrey and Eils, Roland and Wechsler-Reya, Robert J and Lichter, Peter and Pfister, Stefan M and ICGC PedBrain Tumor Project
Cancer Cell, ISSN 1535-6108, 03/2014, Volume 25, Issue 3, pp. 393 - 405
Smoothened (SMO) inhibitors recently entered clinical trials for sonic-hedgehog-driven medulloblastoma (SHH-MB). Clinical response is highly variable. To... 
NERVOUS-SYSTEM | TERT PROMOTER MUTATIONS | ONCOLOGY | GROWTH | HEDGEHOG PATHWAY INHIBITOR | ITRACONAZOLE | PEDIATRIC MEDULLOBLASTOMA | CANCER | TUMORS | MOUSE MODELS | ADULT | CELL BIOLOGY | Neoplasm Transplantation | Oncogene Proteins - genetics | Humans | Zinc Finger Protein Gli2 | Child, Preschool | Molecular Sequence Data | Infant | Male | Gene Expression Profiling | Phosphatidylinositol 3-Kinases - metabolism | Biphenyl Compounds - therapeutic use | Promoter Regions, Genetic - genetics | Proto-Oncogene Proteins c-akt - genetics | Tumor Suppressor Protein p53 - genetics | Young Adult | Telomerase - genetics | Hedgehog Proteins - genetics | Base Sequence | Smoothened Receptor | Adult | Female | N-Myc Proto-Oncogene Protein | Patched Receptors | Medulloblastoma - genetics | Nuclear Proteins - genetics | Proto-Oncogene Proteins c-akt - metabolism | Child | Pyridines - therapeutic use | Cerebellar Neoplasms - drug therapy | Repressor Proteins - genetics | DNA Copy Number Variations - genetics | Signal Transduction - genetics | Cerebellar Neoplasms - genetics | Mice, SCID | Phosphatidylinositol 3-Kinases - genetics | DEAD-box RNA Helicases - genetics | Drug Resistance, Neoplasm - genetics | Animals | Adolescent | Receptors, G-Protein-Coupled - antagonists & inhibitors | Mice, Inbred NOD | High-Throughput Nucleotide Sequencing | Mice | Receptors, G-Protein-Coupled - genetics | Medulloblastoma - drug therapy | Kruppel-Like Transcription Factors - genetics | Patched-1 Receptor | Receptors, Cell Surface - genetics | Genetic aspects | Nucleotide sequencing | Analysis | Medulloblastoma | Genomics | DNA sequencing | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2012, Volume 44, Issue 12, pp. 1310 - 1315
Endometrial cancer is the sixth most commonly diagnosed cancer in women worldwide, causing similar to 74,000 deaths annually(1). Serous endometrial cancers are... 
FACTOR CHD4 | SUPPRESSOR | FREQUENT MUTATIONS | DNA-DAMAGE | PROSTATE-CANCER | GENETICS & HEREDITY | ARID1A | NURD | HISTONE DEACETYLASE | RENAL-CARCINOMA | CELL CARCINOMA | Endometrial cancer | Mi-2 Nucleosome Remodeling and Deacetylase Complex | Humans | Repressor Proteins | Adenocarcinoma, Clear Cell | Molecular Sequence Data | E1A-Associated p300 Protein | Endometrial Neoplasms | Sulfonylurea Receptors | SPOP protein, human | EP300 protein, human | Ubiquitin-Protein Ligase Complexes | Proteins | Exome | F-Box Proteins | ARID1A protein, human | Base Sequence | Genetics | Adult | Female | ABCC9 protein, human | Mi-2 Nucleosome Remodeling & Deacetylase Complex | FBXW7 protein, human | Medical research | Gene Frequency | Potassium Channels, Inwardly Rectifying | Autoantigens | Sequence Analysis, DNA | Nuclear Proteins | Ubiquitin-Protein Ligases | ATP-Binding Cassette Transporters | Chromatin Assembly & Disassembly | Transcription Factors | Mutation | Carcinoma, Endometrioid | Receptors, Drug | MAP Kinase Kinase Kinase 4 | Cell Cycle Proteins | CHD4 protein, human | Cancer | Tumors | Etiology | Cdc4 protein | Endometrium | Ubiquitin-protein ligase | Chromatin remodeling | F-Box-WD Repeat-Containing Protein 7 | Receptors, Drug - genetics | E1A-Associated p300 Protein - genetics | Chromatin Assembly and Disassembly - genetics | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Ubiquitin-Protein Ligase Complexes - genetics | Autoantigens - genetics | ATP-Binding Cassette Transporters - genetics | Endometrial Neoplasms - genetics | Cell Cycle Proteins - genetics | Nuclear Proteins - genetics | Carcinoma, Endometrioid - genetics | Repressor Proteins - genetics | Potassium Channels, Inwardly Rectifying - genetics | Transcription Factors - genetics | MAP Kinase Kinase Kinase 4 - genetics | Exome - genetics | Ubiquitin-Protein Ligases - genetics | Adenocarcinoma, Clear Cell - genetics | F-Box Proteins - genetics | Usage | Gene mutations | Exome sequencing | Genetic aspects | Diagnosis | Research | Health aspects | Index Medicus
Journal Article
Cell, ISSN 0092-8674, 09/2016, Volume 167, Issue 1, pp. 233 - 247.e17
Journal Article
Nature Medicine, ISSN 1078-8956, 2012, Volume 18, Issue 2, pp. 296 - 301
T cell acute lymphoblastic leukemia (T-ALL) is an immature hematopoietic malignancy driven mainly by oncogenic activation of NOTCH1 signaling(1). In this study... 
MEDICINE, RESEARCH & EXPERIMENTAL | NOTCH1 | PRC2 | BIOCHEMISTRY & MOLECULAR BIOLOGY | CONTEXT | SOMATIC MUTATIONS | GENOME | EZH2 | CELL BIOLOGY | Lymphocyte receptors | Oligonucleotide Array Sequence Analysis | Leukemia | Epigenesis, Genetic | Humans | Repressor Proteins | Gene Expression Regulation, Neoplastic | SUZ12 protein, human | NOTCH1 protein, human | Carrier Proteins | DNA-Binding Proteins | Histone-Lysine N-Methyltransferase | Gene Silencing | Polycomb-Group Proteins | Cells | EZH2 protein, human | Nuclear Proteins | Polycomb Repressive Complex 2 | Animals | Suz12 protein, mouse | Cell Line, Tumor | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | Mice | Transcription Factors | Ezh2 protein, mouse | Receptor, Notch1 | DNA-Binding Proteins - metabolism | Nuclear Proteins - genetics | Gene Expression Regulation, Neoplastic - genetics | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - metabolism | Repressor Proteins - metabolism | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Nuclear Proteins - metabolism | Receptor, Notch1 - metabolism | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Enhancer of Zeste Homolog 2 Protein | Transcription Factors - metabolism | Carrier Proteins - genetics | Carrier Proteins - metabolism | Histone-Lysine N-Methyltransferase - metabolism | Epigenesis, Genetic - genetics | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics | Receptor, Notch1 - genetics | Gene Silencing - physiology | Physiological aspects | Genetic research | Care and treatment | Genetic aspects | Acute lymphocytic leukemia | T cells | Index Medicus
Journal Article
Science, ISSN 0036-8075, 12/2012, Volume 338, Issue 6114, pp. 1619 - 1622
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations but few recurrently disrupted genes. We therefore developed... 
Exome | Genetic variation | Pervasive child development disorders | DNA | REPORTS | Cell lines | Genetic loci | Genomes | Genetic mutation | Sequencing | Cells | DYRK1A | RISK | AMPLIFICATION | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | RESOURCE | Autism | Genotype & phenotype | Mutation | Genomics | Inversion | Internet | Probes | Multiplexing | Mutations | Genes | Inversions | Disorders | Online | Gene sequencing | Microcephaly - genetics | Humans | Child, Preschool | Male | Cephalometry | Receptors, N-Methyl-D-Aspartate - genetics | Protein-Tyrosine Kinases - genetics | Female | Nuclear Proteins - genetics | Child | Megalencephaly - genetics | DNA Probes | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Protein-Serine-Threonine Kinases - genetics | Chromatin Assembly and Disassembly | Repressor Proteins - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | T-Box Domain Proteins - genetics | beta Catenin - metabolism | beta Catenin - genetics | Child Development Disorders, Pervasive - genetics | Sequence Analysis, DNA - methods | Cohort Studies | Genetic aspects | Research | Nucleotide sequencing | Gene mutations | Pervasive developmental disorders | DNA sequencing | Index Medicus
Journal Article