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1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
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 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | 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 | Index Medicus | 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
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2. Full Text Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
by Coe, Bradley P and Stessman, Holly A. F and Sulovari, Arvis and Geisheker, Madeleine R and Bakken, Trygve E and Lake, Allison M and Dougherty, Joseph D and Lein, Ed S and Hormozdiari, Fereydoun and Bernier, Raphael A and Eichler, Evan E
Nature genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Gene duplication | Mutation | Chromosome 16 | Index Medicus | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
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3. Full Text Computer-aided screening for suppressor of variegation 4-20 homolog 1 inhibitors and their preliminary activity validation in human osteosarcoma
by Zheng, Ruxiao and Liang, Danfeng and Jiang, Na and Zhou, Jing and Long, Xin and Wang, Xin and Wu, Miaomiao and Wu, Chuangfang and Bao, Jinku
Journal of biomolecular structure & dynamics, ISSN 0739-1102, 01/2020, pp. 1 - 12
Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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4. Full Text Cross-species analyses unravel the complexity of H3K27me3 and H4K20me3 in the context of neural stem progenitor cells
by Rhodes, Christopher T and Sandstrom, Richard S and Huang, Shu-Wei Angela and Wang, Yufeng and Schotta, Gunnar and Berger, Mitchel S and Lin, Chin-Hsing Annie
Neuroepigenetics, ISSN 2214-7845, 06/2016, Volume 6, pp. 10 - 25
Chromatin immunoprecipitation (ChIP) | Suppressor of variegation homolog 1 (human—gene: KMT5B or SUV420H1, protein: lysine methyltransferase 5B, synonym Suv4-20h1) (mouse—gene: Suv4-20h1, synonym Kmt5b, protein: histone-lysine N-methyltransferase KMT5B, synonym Suv4-20h1) | Stereotaxic injection | Suppressor of variegation homolog 2 (human—gene: KMT5C or SUV420H2, protein: lysine methyltransferase 5C, synonym Suv4-20h2) (mouse—gene: Suv4-20h2, synonym Kmt5c, protein: histone-lysine N-methyltransferase KMT5C, synonym Suv4-20h2) | Trimethylation at histone 3 lysine 27 (H3K27me3) and histone 4 lysine 20 (H4K20me3) | Glioblastoma multiforme (GBM) | Cre recombinant protein | Epigenetic repression | Neural stem progenitor cells (NSPCs) | Enhancer of zeste (human—gene: EZH2, protein: EZH2) (mouse—gene: Ezh2, protein: histone-lysine N-methyltransferase EZH2) | Suppressor of variegation homolog 1 (human-gene: KMT5B or SUV420H1, protein: lysine methyltransferase 5B, synonym Suv4-20h1) (mouse-gene: Suv4-20h1, synonym Kmt5b, protein: histone-lysine N-methyltransferase KM | Suppressor of variegation homolog 2 (human-gene: KMT5C or SUV420H2, protein: lysine methyltransferase 5C, synonym Suv4-20h2) (mouse-gene: Suv4-20h2, synonym Kmt5c, protein: histone-lysine N-methyltransferase KM | Enhancer of zeste (human-gene: EZH2, protein: EZH2) (mouse-gene: Ezh2, protein: histone-lysine N-methyltransferase EZH2) | Epigenetic Repression | Suppressor of variegation homolog 1 (Human- Gene: KMT5B or SUV420H1, Protein: lysine methyltransferase 5B, synonym Suv4-20h1) (Mouse- Gene: Suv4-20h1, synonym Kmt5b, Protein: Histone-lysine N-methyltransferase KMT5B, synonym Suv4-20h1) | Glioblastoma Multiforme (GBM) | Neural Stem Progenitor Cells (NSPCs) | Suppressor of variegation homolog 2 (Human- Gene: KMT5C or SUV420H2, Protein: lysine methyltransferase 5C, synonym Suv4-20h2) (Mouse- Gene: Suv4-20h2, synonym Kmt5c, Protein: Histone-lysine N-methyltransferase KMT5C, synonym Suv4-20h2) | tri-methylation at histone 3 lysine 27 (H3K27me3) and histone 4 lysine 20 (H4K20me3) | Enhancer of zeste (Human- Gene: EZH2, Protein: EZH2) (Mouse- Gene: Ezh2, Protein: Histone-lysine N-methyltransferase EZH2) | Chromatin Immunoprecipitation (ChIP)
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5. Full Text Crystal structures of the human histone H4K20 methyltransferases SUV420H1 and SUV420H2
by Wu, Hong and Siarheyeva, Alena and Zeng, Hong and Lam, Robert and Dong, Aiping and Wu, Xian-Hui and Li, Yanjun and Schapira, Matthieu and Vedadi, Masoud and Min, Jinrong
FEBS letters, ISSN 0014-5793, 11/2013, Volume 587, Issue 23, pp. 3859 - 3868
SUV420H2 | Histone methyltransferase | SET domain | Crystal structure | SUV420H1 | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Amino Acid Sequence | Histone-Lysine N-Methyltransferase - genetics | Zinc - metabolism | Humans | Molecular Sequence Data | Substrate Specificity | Crystallography, X-Ray | S-Adenosylmethionine - chemistry | Histone-Lysine N-Methyltransferase - chemistry | Histone-Lysine N-Methyltransferase - metabolism | Molecular Docking Simulation | Histones - metabolism | Mutation | Methylation | Binding Sites | S-Adenosylmethionine - metabolism | Methyltransferases | Structure | Crystals | Index Medicus
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6. Full Text SUV420H1 enhances the phosphorylation and transcription of ERK1 in cancer cells
by Vougiouklakis, Theodore and Sone, Kenbun and Saloura, Vassiliki and Cho, Hyun-Soo and Suzuki, Takehiro and Dohmae, Naoshi and Alachkar, Houda and Nakamura, Yusuke and Hamamoto, Ryuji
Oncotarget, ISSN 1949-2553, 2015, Volume 6, Issue 41, pp. 43162 - 43171
ERK1 | Non-histone protein methylation | Protein lysine methyltransferase | SUV420H1 | Oncology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | MAP Kinase Signaling System - physiology | Phosphorylation | Humans | Carcinogenesis - genetics | Cell Proliferation - physiology | Blotting, Western | Carcinogenesis - pathology | Transfection | Histone-Lysine N-Methyltransferase - metabolism | Mass Spectrometry | Mitogen-Activated Protein Kinase 3 - biosynthesis | Cell Line, Tumor | Transcription, Genetic | RNA, Small Interfering | Neoplasms - pathology | Gene Expression Regulation, Neoplastic - physiology | Real-Time Polymerase Chain Reaction | Index Medicus
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