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The Journal of Pathology, ISSN 0022-3417, 02/2016, Volume 238, Issue 3, pp. 389 - 400
Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) is a lethal and sometimes familial ovarian tumour of young women and children. We and others... 
trichostatin A | SMARCA2/BRM | SMARCB1/INI1 | SMARCA4/BRG1 | SWI/SNF | small cell carcinoma | HDAC inhibitor | rhabdoid tumour | epigenetic silencing | hypercalcaemic type | DOWN-REGULATION | CYCLE ARREST | BRM EXPRESSION | PATHOLOGY | LUNG-CANCER | CD44 EXPRESSION | CANCER GENOMICS | BRG-1 | HIGH-GRADE | ONCOLOGY | NEUROENDOCRINE CARCINOMA | RHABDOID TUMOR | Immunohistochemistry | Carcinoma, Small Cell - genetics | Humans | Transcription Factors - deficiency | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | Ovarian Neoplasms - genetics | SMARCB1 Protein | Cell Transformation, Neoplastic - genetics | Nuclear Proteins - deficiency | Biomarkers, Tumor - metabolism | Female | Nuclear Proteins - genetics | DNA Helicases - genetics | Hypercalcemia - genetics | Chromosomal Proteins, Non-Histone - metabolism | Ovarian Neoplasms - diagnosis | Cell Proliferation - physiology | Adenosine Triphosphatases - metabolism | Nuclear Proteins - metabolism | DNA Helicases - deficiency | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Carcinoma, Small Cell - diagnosis | Chromosomal Proteins, Non-Histone - deficiency | Chromosomal Proteins, Non-Histone - genetics | Transcription Factors - metabolism | DNA Helicases - metabolism | Cell Line, Tumor | Gene Silencing - physiology | Carcinoma | Sarcoma | Adenosine triphosphatase | Ovarian cancer | Cancer | SMARCB1 | SWI | BRG1 | Original Papers | Original Paper | SNF | SMARCA2 | SMARCA4 | INI1 | BRM
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
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
The American journal of surgical pathology, ISSN 0147-5185, 4/2017, Volume 41, Issue 4, pp. 458 - 471
To more fully characterize the clinical and pathological spectrum of a recently described tumor entity of the sinonasal tract characterized by loss of nuclear... 
sinonasal tract | SMARCB1-deficient sinonasal carcinoma | basaloid carcinoma | SMARCB1 | rhabdoid carcinoma | ARID1A | SMARCA2 | INI1 | SMARCA4
Journal Article
Histopathology, ISSN 0309-0167, 07/2015, Volume 67, Issue 1, pp. 121 - 129
Journal Article
Gene, ISSN 0378-1119, 03/2019, Volume 687, pp. 193 - 199
The complex is a multimeric chromatin remodeling complex that has vital roles in regulating gene expression and cancer development. However, to date few... 
dCas9-DNMT3a | Hypermethylation | SMARCA2 | Lung cancer | COMPLEX | RISK | CELL-LINES | ARREST | POLYMORPHISMS | SWI/SNF | GENETICS & HEREDITY | MUTATIONS | BRM | EXPRESSION | HSNF5/INI1/BAF47 | Index Medicus
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 01/2019, Volume 508, Issue 1, pp. 109 - 116
Recent studies have highlighted that cancer cells with a loss of the SWI/SNF complex catalytic subunit are dependent on the remaining ATPase, making it an... 
SMASh | Degron | BRM/SMARCA2 | SWI/SNF | BRG1/SMARCA4 | MCL1 | TARGET | BIOPHYSICS | SWI/SNF COMPLEXES | BIOCHEMISTRY & MOLECULAR BIOLOGY | INHIBITOR
Journal Article
Virchows Archiv, ISSN 0945-6317, 11/2017, Volume 471, Issue 5, pp. 599 - 609
Alterations in SMARCA4, a member of the chromatin remodeling Switch Sucrose Non-Fermentable (SWI/SNF) complex, characterize a subset of non-small cell lung... 
Adenocarcinoma | Pathology | Medicine & Public Health | NSCLC | SALL4 | SWI/SNF complex | Glypican-3 | SMARCA2 | SMARCA4 | HepPar-1
Journal Article
VIRCHOWS ARCHIV, ISSN 0945-6317, 11/2017, Volume 471, Issue 5, pp. 599 - 609
Alterations in SMARCA4, a member of the chromatin remodeling Switch Sucrose Non-Fermentable (SWI/SNF) complex, characterize a subset of non-small cell lung... 
Adenocarcinoma | OVARY | CHROMATIN-REMODELING FACTOR | NSCLC | PATHOLOGY | SMARCA2 | SMARCA4 | HepPar-1 | INACTIVATION | LUNG-CANCER | SALL4 | SWI/SNF complex | PROTEIN EXPRESSION | SMALL-CELL CARCINOMA | HYPERCALCEMIC TYPE | Glypican-3 | SMARCA4 BRG1 | MUTATIONS
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2017, Volume 114, Issue 46, pp. 12249 - 12254
Subunits of the SWI/SNF chromatin remodeling complex are frequently mutated in human cancers leading to epigenetic dependencies that are therapeutically... 
PRC2 | ARID1A | SMARCA2 | EZH2 | SMARCA4 | OVARY | SMALL-CELL-CARCINOMA | CHROMATIN REMODELING COMPLEXES | BRG1 | MULTIDISCIPLINARY SCIENCES | CANCER | MALIGNANT RHABDOID TUMORS | HYPERCALCEMIC TYPE | MICE | MUTATIONS | BRM | Epigenetic inheritance | Genetic aspects | Gene mutations | Health aspects | Tumors | Biological Sciences
Journal Article