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Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 438 - 443
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 558 - 15
Inactivating mutations in SMARCA4 (BRG1), a key SWI/SNF chromatin remodelling gene, underlie small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). To... 
MULTIDISCIPLINARY SCIENCES | LINE | TRANSCRIPTION | INVOLVEMENT | COMPLEXES | SMARCA4 MUTATIONS | SENSITIVITY | SYNTHETIC LETHALITY | CANCER | EXPRESSION | EZH2 | Cyclin D1 - metabolism | RNA, Small Interfering - genetics | Humans | Cell Survival - genetics | Cyclin D1 - deficiency | Aminopyridines - therapeutic use | Chromatin Immunoprecipitation | Female | Hypercalcemia - drug therapy | Ovarian Neoplasms - metabolism | Purines - therapeutic use | Nuclear Proteins - genetics | DNA Helicases - genetics | Ovarian Neoplasms - drug therapy | Benzimidazoles - therapeutic use | Pyridines - therapeutic use | Cell Survival - drug effects | Carcinoma, Small Cell - metabolism | Carcinoma, Small Cell - drug therapy | Hypercalcemia - metabolism | Nuclear Proteins - metabolism | Piperazines - therapeutic use | Transcription Factors - genetics | Mice, SCID | Transcription Factors - metabolism | DNA Helicases - metabolism | Animals | Protein Kinase Inhibitors - therapeutic use | Cell Line, Tumor | Mice | BRG1 protein | RNA-mediated interference | Cyclin-dependent kinases | p16 Protein | INK4a protein | Breast cancer | Cyclin D1 | Kinases | Screens | Cyclin-dependent kinase 4 | Chromatin remodeling | Hypercalcemia | Cyclin-dependent kinase | Inhibitors | Tumor suppressor genes | Mutation | Retinoblastoma | Tumors | Cancer | Index Medicus
Journal Article
The Journal of Pathology, ISSN 0022-3417, 07/2017, Volume 242, Issue 3, pp. 371 - 383
Small cell carcinoma of the ovary, hypercalcaemic type ( SCCOHT ) is a rare but aggressive and untreatable malignancy affecting young women. We and others... 
differentiation | SWI | ovarian cancer | SCCOHT | SNF | chromatin remodelling complex | / | EZH2 | SMARCA4 | SWI/SNF | STEM-CELLS | CYCLE REGULATION | SWI/SNF COMPLEXES | POLYCOMB GROUP PROTEIN | PATHOLOGY | CANCER | MALIGNANT RHABDOID TUMORS | INHIBITION | ONCOLOGY | SMARCA4 MUTATIONS | PROTEOMICS | Enhancer of Zeste Homolog 2 Protein - antagonists & inhibitors | Hypercalcemia - enzymology | Neoplasm Transplantation | Up-Regulation | Enhancer of Zeste Homolog 2 Protein - metabolism | Down-Regulation | Humans | Transcription Factors - deficiency | Cell Cycle Checkpoints - physiology | Transplantation, Heterologous | DNA Helicases - deficiency | Carcinoma, Small Cell - enzymology | Ovarian Neoplasms - enzymology | Neoplasms, Glandular and Epithelial - enzymology | Animals | Histone Methyltransferases | Histone-Lysine N-Methyltransferase - metabolism | Cell Transformation, Neoplastic | Nuclear Proteins - deficiency | Carcinoma, Ovarian Epithelial | Cell Line, Tumor | Female | Apoptosis - physiology | Tumor Cells, Cultured | Carcinoma | Methyltransferases | Analysis | Histones | Health aspects | Ovarian cancer | Cancer | Immunohistochemistry | Biotechnology | Transformation | Transcription | Genes | Differentiation (biology) | Genomes | Catalytic activity | Malignancy | Remodeling | Complexity | Coding | Copyrights | Rewiring | Cell cycle | Xenografts | Histone methyltransferase | Catalysis | Inhibition | Cell survival | Hypersensitivity | Pharmacology | Cell differentiation | Gene expression | Survival | Chromatin remodeling | Inhibitors | Cell lines | Mice | Adenosine triphosphatase | Tumors | Apoptosis | Index Medicus
Journal Article
Molecular Cancer Therapeutics, ISSN 1535-7163, 05/2017, Volume 16, Issue 5, pp. 850 - 860
The SWI/SNF complex is a major regulator of gene expression and is increasingly thought to play an important role in human cancer, as evidenced by the high... 
TRANSFORMATION | LUNG-CANCER | METHYLATION | ONCOLOGY | SWI/SNF COMPLEXES | BRG1/BRM | RHABDOID TUMOR | LYMPHOMA | SCREENS | MUTATIONS | EXPRESSION | Enhancer of Zeste Homolog 2 Protein - antagonists & inhibitors | Carcinoma, Small Cell - genetics | Humans | Ovarian Neoplasms - pathology | Rhabdoid Tumor - pathology | Ovarian Neoplasms - genetics | Female | Hypercalcemia - drug therapy | Gene Expression Regulation, Neoplastic - drug effects | Nuclear Proteins - genetics | DNA Helicases - genetics | Ovarian Neoplasms - drug therapy | Hypercalcemia - genetics | Rhabdoid Tumor - drug therapy | Diagnosis, Differential | Enhancer of Zeste Homolog 2 Protein - genetics | Histone-Lysine N-Methyltransferase - genetics | Hypercalcemia - pathology | Ovarian Neoplasms - diagnosis | Carcinoma, Small Cell - drug therapy | Transcription Factors - genetics | Carcinoma, Small Cell - diagnosis | Chromosomal Proteins, Non-Histone - genetics | Xenograft Model Antitumor Assays | Animals | Rhabdoid Tumor - genetics | Hypercalcemia - diagnosis | Cell Line, Tumor | Mice | Rhabdoid Tumor - diagnosis | Mutation | Carcinoma, Small Cell - pathology | Medical research | Biotechnology | Ovarian carcinoma | Clinical trials | Tumor cell lines | Gene expression | Anticancer properties | Hypercalcemia | Cell lines | SWI/SNF complex | Xenografts | Histone methyltransferase | Antitumor activity | Inhibition | Cancer | Tumors | Index Medicus
Journal Article
Gynecologic Oncology, ISSN 0090-8258, 2016, Volume 141, Issue 3, pp. 454 - 460
Journal Article
The Journal of Pathology, ISSN 0022-3417, 09/2017, Volume 243, Issue 1, pp. 9 - 15
SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin–Siris syndrome (CSS) patients and in almost all small‐cell carcinoma of the ovary... 
Coffin–Siris syndrome (CSS) | small‐cell carcinoma of the ovary hypercalcaemic type (SCCOHT) | haploinsufficiency | microphthalmia | SMARCA4/BRG1 | SWI/SNF complex | whole‐exome sequencing (WES) | chromatin remodelling factors | nonsense‐mediated mRNA decay (NMD) | intellectual disability | whole-exome sequencing (WES) | small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) | nonsense-mediated mRNA decay (NMD) | COMPLEX | Coffin-Siris syndrome (CSS) | PHENOTYPE | COMPONENTS | PATHOLOGY | ONCOLOGY | PATIENT | Immunohistochemistry | Carcinoma, Small Cell - genetics | Frameshift Mutation | Microphthalmos - genetics | Humans | Middle Aged | Male | Intellectual Disability - metabolism | Ovarian Neoplasms - genetics | Carcinoma, Small Cell - chemistry | Micrognathism - metabolism | DNA Mutational Analysis | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Genetic Predisposition to Disease | Micrognathism - genetics | Hypercalcemia - metabolism | Neck - abnormalities | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Phenotype | Hypercalcemia - diagnosis | Abnormalities, Multiple - diagnosis | Adolescent | Biomarkers, Tumor - genetics | Transcription Factors - analysis | Abnormalities, Multiple - metabolism | Nuclear Proteins - analysis | Face - abnormalities | Microphthalmos - metabolism | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Microphthalmos - diagnosis | Micrognathism - diagnosis | Hand Deformities, Congenital - metabolism | Female | Nuclear Proteins - genetics | Hypercalcemia - genetics | Ovarian Neoplasms - chemistry | Biomarkers, Tumor - analysis | Ovarian Neoplasms - diagnosis | RNA, Messenger - genetics | Codon, Nonsense | Transcription Factors - genetics | Carcinoma, Small Cell - diagnosis | Hand Deformities, Congenital - genetics | Pedigree | Intellectual Disability - diagnosis | DNA Helicases - analysis | Heterozygote | Genetic aspects | Carcinoma | Analysis | Cancer | Animal models | Nonsense mutation | mRNA turnover | Coffin-Siris syndrome | Disorders | Frameshift mutation | Reverse transcription | Immunoblotting | Nonsense-mediated mRNA decay | Patients | Chromatin remodeling | Haploinsufficiency | Polymerase chain reaction | Missense mutation | Mutation | Tumors | Microphthalmia | Index Medicus | SWI | BRG1 | Brief Definitive Report | Brief Definitive Reports | SMARCA4 | SNF complex
Journal Article
Journal Article