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Journal of clinical oncology, ISSN 1527-7755, 2013, Volume 31, Issue 34, pp. 4333 - 4342
Journal Article
Nature (London), ISSN 1476-4687, 2018, Volume 562, Issue 7725, pp. 69 - 75
Primary liver cancer represents a major health problem. It comprises hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC), which differ... 
PATHOGENESIS | HEPATOCELLULAR-CARCINOMA | INTRAHEPATIC CHOLANGIOCARCINOMA | READ ALIGNMENT | HEPATOCYTES | INFLAMMATION | MULTIDISCIPLINARY SCIENCES | SEQUENCING DATA | EXPRESSION | DISCOVERY | CELL-DEATH | Humans | Tumor Microenvironment | Apoptosis - genetics | Hepatocytes - pathology | Male | Gene Expression Profiling | Genes, myc | Hepatocytes - metabolism | Proto-Oncogene Proteins c-akt - genetics | DNA-Binding Proteins - metabolism | Carcinoma, Hepatocellular - genetics | DNA Transposable Elements - genetics | Female | Liver Neoplasms - pathology | Cell Differentiation | Cell Lineage - genetics | Disease Models, Animal | Cyclin-Dependent Kinase Inhibitor p16 - deficiency | Cytokines - metabolism | Liver Neoplasms - genetics | Carcinogenesis - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Transcription Factors - metabolism | Cholangiocarcinoma - pathology | Animals | Epigenesis, Genetic - genetics | Carcinoma, Hepatocellular - pathology | Cholangiocarcinoma - genetics | Mosaicism | Mice | Necrosis - genetics | Genes, ras | Liver cancer | Research | Carcinogenesis | Oncology, Experimental | Apoptosis | Cancer | Animal models | Cytokines | Liver | Hepatocellular carcinoma | Genomes | Metastasis | Risk analysis | Gene expression | Risk factors | Metastases | Hepatocytes | Morphology | DNA methylation | Tumorigenesis | Bioinformatics | Cholangiocarcinoma | Deoxyribonucleic acid--DNA | Tumors | T-Box Domain Proteins/metabolism | Hepatocytes/pathology | DNA-Binding Proteins/metabolism | Life Sciences | Cholangiocarcinoma/pathology | Transcription Factors/metabolism | Necrosis/genetics | Cytokines/metabolism | Epigenesis, Genetic/genetics | Cyclin-Dependent Kinase Inhibitor p16/deficiency | Carcinoma, Hepatocellular/pathology | DNA Transposable Elements/genetics | Cell Lineage/genetics | T-Box Domain Proteins/genetics | Transcription Factors/genetics | Apoptosis/genetics | Proto-Oncogene Proteins c-akt/genetics | Liver Neoplasms/genetics | Cholangiocarcinoma/genetics | Liver Neoplasms/pathology | DNA-Binding Proteins/genetics | Hepatocytes/metabolism | Carcinoma, Hepatocellular/genetics | Carcinogenesis/genetics
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 (London), ISSN 1476-4687, 2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Nature Communications, ISSN 2041-1723, 07/2015, Volume 6, Issue 1, p. 7557
...) and DNA methylome analyses to unravel the genetic/epigenetic basis of RMS. On the basis of methylation patterns, RMS is clustered into four distinct subtypes... 
WIDE DNA METHYLATION | AMPLIFICATION | PIK3CA GENE | EMBRYONAL RHABDOMYOSARCOMA | PATHWAY MUTATIONS | ADOLESCENTS | MULTIDISCIPLINARY SCIENCES | PTEN | ALVEOLAR RHABDOMYOSARCOMA | HUMAN CANCER | BREAST | Paired Box Transcription Factors - genetics | F-Box-WD Repeat-Containing Protein 7 | ras Proteins - genetics | Prognosis | Rhabdomyosarcoma, Embryonal - classification | Humans | Transcriptome | Child, Preschool | PAX7 Transcription Factor - genetics | Infant | Male | Rhabdomyosarcoma, Alveolar - classification | RNA, Messenger - metabolism | Proto-Oncogene Proteins c-akt - genetics | Tumor Suppressor Protein p53 - genetics | Exome | Rhabdomyosarcoma, Embryonal - genetics | Young Adult | Cell Cycle Proteins - genetics | Female | Receptor, Fibroblast Growth Factor, Type 4 - genetics | Child | Gene Expression Regulation, Neoplastic - genetics | PTEN Phosphohydrolase - genetics | PAX3 Transcription Factor | Rhabdomyosarcoma, Alveolar - genetics | Repressor Proteins - genetics | Proto-Oncogene Proteins - genetics | DNA Methylation - genetics | Forkhead Transcription Factors - genetics | beta Catenin - genetics | Epigenesis, Genetic - genetics | Adolescent | Rhabdomyosarcoma - classification | Forkhead Box Protein O1 | Rhabdomyosarcoma - genetics | Mutation | Ubiquitin-Protein Ligases - genetics | F-Box Proteins - genetics
Journal Article
Nature communications, ISSN 2041-1723, 2015, Volume 6, Issue 1, p. 6744
Pancreatic ductal adenocarcinoma (PDA) has a dismal prognosis and insights into both disease etiology and targeted intervention are needed. A total of 109... 
SIGNATURES | MODELS | DUCTAL ADENOCARCINOMA | MULTIDISCIPLINARY SCIENCES | TUMOR | SOMATIC MUTATION | COPY-NUMBER ALTERATION | GENOMIC CHARACTERIZATION | CARCINOMA | PROGRESSION | DISCOVERY | Cell Cycle - genetics | RNA-Binding Proteins - genetics | Prognosis | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Middle Aged | Carcinoma, Adenosquamous - drug therapy | Male | Antineoplastic Agents - therapeutic use | DNA Repair - genetics | Molecular Targeted Therapy | Tumor Suppressor Protein p53 - genetics | Carcinoma, Pancreatic Ductal - genetics | DNA Copy Number Variations | Genetic Variation | Pancreatic Neoplasms - drug therapy | Aged, 80 and over | Adult | Female | Nuclear Proteins - genetics | Carcinoma, Adenosquamous - pathology | Pancreatic Neoplasms - pathology | Kaplan-Meier Estimate | Pancreatic Neoplasms - genetics | Carcinoma, Adenosquamous - genetics | Transcription Factors - genetics | Carcinoma, Pancreatic Ductal - pathology | Sequence Analysis, DNA | Carcinoma, Pancreatic Ductal - drug therapy | Drug Resistance, Neoplasm - genetics | Exome - genetics | Gene Amplification | Sulfonamides - therapeutic use | Wnt Signaling Pathway - genetics | Proto-Oncogene Proteins B-raf - genetics | Retinoblastoma Protein - genetics | Genes, myc - genetics | Indoles - therapeutic use | Aged | BRCA2 Protein - genetics
Journal Article
Gastroenterology, ISSN 0016-5085, 2014, Volume 146, Issue 2, pp. 520 - 529.e6
Background & Aims Little is known about the genetic factors that contribute to the development of sessile serrated adenomas (SSAs... 
Gastroenterology and Hepatology | Hereditary Colon Cancer | RNF43 | Sessile Serrated Polyp | Serrated Polyposis Syndrome | PROTEIN | TUMOR PROGRESSION | OF-FUNCTION VARIANTS | RISK | BRAF | CANCER | RARE VARIANTS | XAF1 | GASTROENTEROLOGY & HEPATOLOGY | HYPERPLASTIC POLYPOSIS | REVEALS | Oncogene Proteins - genetics | ras Proteins - genetics | Colonic Neoplasms - genetics | Proto-Oncogene Proteins p21(ras) | Prospective Studies | Proto-Oncogene Proteins c-ets - genetics | Adenomatous Polyps - genetics | Adenomatous Polyps - pathology | Genomics | Humans | Middle Aged | Male | Retinoblastoma-Like Protein p107 - genetics | Case-Control Studies | DNA-Binding Proteins - metabolism | Exome | Germ-Line Mutation | Adult | Female | Precancerous Conditions - pathology | Neoplasm Proteins - genetics | DNA Helicases - genetics | Intracellular Signaling Peptides and Proteins - genetics | Cellular Senescence - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Oncogene Proteins - metabolism | Proto-Oncogene Proteins - genetics | Codon, Nonsense | Genetic Markers | DNA-Binding Proteins - genetics | Precancerous Conditions - genetics | Sequence Analysis, DNA | Proto-Oncogene Proteins B-raf - genetics | Colonic Neoplasms - pathology | Aged | Ataxia Telangiectasia Mutated Proteins - genetics | Medical colleges | Genetic aspects | Gene mutations | Analysis | hereditary colon cancer | serrated polyposis syndrome | sessile serrated polyp
Journal Article
PloS one, ISSN 1932-6203, 2013, Volume 8, Issue 5, p. e62589
...Author(s): Yutaka Hashimoto, Yoshimitsu Akiyama, Yasuhito Yuasa * Introduction MicroRNAs (miRNAs), a class of small non-protein-coding RNAs... 
CELLS | SCIRRHOUS CARCINOMA | METHYLATION | CARCINOGENESIS | COLORECTAL-CANCER | MULTIDISCIPLINARY SCIENCES | PROLIFERATION | DIFFERENTIATION | INHIBITORS | ESTABLISHMENT | EXPRESSION | Proto-Oncogene Proteins - metabolism | Stomach Neoplasms - genetics | ras Proteins - genetics | Proto-Oncogene Proteins p21(ras) | Cell Proliferation | Humans | Carcinogenesis - genetics | Intercellular Signaling Peptides and Proteins - genetics | Methyl-CpG-Binding Protein 2 - metabolism | ras Proteins - metabolism | Azacitidine - analogs & derivatives | Proto-Oncogene Proteins - genetics | Nerve Tissue Proteins - genetics | Promoter Regions, Genetic - genetics | Methyl-CpG-Binding Protein 2 - genetics | Nerve Tissue Proteins - metabolism | Intercellular Signaling Peptides and Proteins - metabolism | DNA Methylation | Transfection | Cell Line, Tumor | MicroRNAs - genetics | Gene Expression Regulation, Neoplastic - genetics | MicroRNA | Analysis | Genes | Genetic aspects | Genetic transcription | Stomach cancer | Cancer | Cell proliferation | Regulators | Transcription | Colorectal cancer | Oncology | Carcinogenesis | Data bases | K-Ras protein | Proteins | Carcinogens | Cell growth | Databases | Methyl-CpG binding protein | DNA methylation | miRNA | Gastric cancer | Gene expression | Overexpression | MeCP2 protein | MicroRNAs | Epigenetics | 5-aza-2'-deoxycytidine
Journal Article
Cancer Cell, ISSN 1535-6108, 2010, Volume 17, Issue 6, pp. 547 - 559
In mice, Lkb1 deletion and activation of Kras G12D results in lung tumors with a high penetrance of lymph node and distant metastases. We analyzed these... 
CELLCYCLE | SIGNALING | INACTIVATION | SUPPRESSOR | SIGNATURES | ONCOLOGY | SRC | ADENOCARCINOMA | SENSITIVITY | MUTATIONS | LKB1/STK11 | EXPRESSION | TUMORIGENESIS | CELL BIOLOGY | Lung Neoplasms - drug therapy | Protein-Serine-Threonine Kinases - deficiency | Protein-Tyrosine Kinases - metabolism | Proto-Oncogene Proteins p21(ras) - genetics | Genomics | Humans | Lung Neoplasms - metabolism | Gene Expression Profiling | Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Cell Movement - genetics | Phosphorylation - genetics | RNA Interference | Gene Expression Regulation, Neoplastic - genetics | MAP Kinase Kinase 1 - antagonists & inhibitors | Carcinoma, Non-Small-Cell Lung - metabolism | Signal Transduction - genetics | Enzyme Inhibitors - therapeutic use | Focal Adhesion Protein-Tyrosine Kinases - antagonists & inhibitors | Focal Adhesion Protein-Tyrosine Kinases - genetics | Focal Adhesions - genetics | Signal Transduction - drug effects | Mice, Nude | Cell Line, Tumor | Mice | TOR Serine-Threonine Kinases | src-Family Kinases - genetics | Protein-Tyrosine Kinases - antagonists & inhibitors | ras Proteins - genetics | Lung Neoplasms - pathology | Cell Transdifferentiation - genetics | Protein-Tyrosine Kinases - genetics | Neoplasm Metastasis - drug therapy | Mice, Mutant Strains | Protein-Serine-Threonine Kinases - antagonists & inhibitors | src-Family Kinases - metabolism | Female | Drug Therapy, Combination | Lung Neoplasms - genetics | Cell Adhesion - genetics | Carcinoma, Non-Small-Cell Lung - genetics | Focal Adhesion Protein-Tyrosine Kinases - metabolism | Intracellular Signaling Peptides and Proteins - antagonists & inhibitors | src-Family Kinases - antagonists & inhibitors | Protein-Serine-Threonine Kinases - genetics | Proto-Oncogene Proteins - genetics | Up-Regulation - genetics | Xenograft Model Antitumor Assays | Neoplasm Metastasis - genetics | Animals | MAP Kinase Kinase 2 - antagonists & inhibitors | Protein Kinase Inhibitors - therapeutic use | Focal Adhesions - metabolism | Proteomics | Protein Kinase Inhibitors - pharmacology | Oncology, Experimental | Analysis | Lung cancer | Development and progression | Metastasis | Research | Cancer
Journal Article