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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
Journal Article
Neurobiology of disease, ISSN 0969-9961, 2014, Volume 68, Issue 100, pp. 66 - 77
Neurology | Lipid peroxidation | Oxidative stress | Brain damage | Neurodevelopmental disorder | Murine models | Rett syndrome | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Arachidonic Acid - metabolism | Rett Syndrome - complications | Gas Chromatography-Mass Spectrometry | Mice, Inbred C57BL | Neuroprostanes - metabolism | Oxidative Stress - physiology | Male | Mice, Transgenic | Aldehydes - metabolism | Mutation - genetics | Methyl-CpG-Binding Protein 2 - genetics | Animals | Isoprostanes - metabolism | Analysis of Variance | Nestin - genetics | Brain Injuries - blood | Female | Mice | Brain Injuries - etiology | Rett Syndrome - blood | Rett Syndrome - genetics | Brain Injuries - pathology | Disease Models, Animal | Docosahexaenoic Acids - metabolism | Models | Analysis | Protein binding | Index Medicus | Organic chemistry | Chemical Sciences | OS, oxidative stress | Mecp2 | y, hemizygous null mice | NPBI, non-protein-bound iron | Mecp2, methyl-CpG-binding protein 2 — mouse protein | CRE, Cre-Recombinase | AdA, adrenic acid | AUs, arbitrary units | ARA, arachidonic acid | 4-HNE PAs, 4-HNE protein adducts | PSV, Preserved Speech Variant | Mecp2, methyl-CpG-binding protein 2 — mouse gene | wt, wild type | wt-Cre, wild type expressing Cre recombinase | MECP2, methyl-CpG-binding protein 2 — human gene | y, symptomatic Mecp2 308-mutated hemizygous males | ROS, reactive oxygen species | F2-IsoPs, F2-isoprostanes | MeCP2, methyl-CpG-binding protein 2 — human protein | y, Lox | F2-dihomo-IsoPs, F2-dihomo-isoprostanes | 4-HNE PAs, 4-hydroxy-2-nonenal protein adducts | Mecp2 stop | y NestinCre, rescued Lox | ASDs, autism spectrum disorders | F4-NeuroPs, F4-neuroprostanes | Mecp2 308 | stop pre-symptomatic hemizygous mice | x, symptomatic Mecp2 308-mutated females | DHA, docosahexaenoic acid | PUFAs, polyunsaturated fatty acids | BDNF, brain-derived neurotrophic factor | IsoPs, isoprostanes | RTT, Rett syndrome | stop mice (Mecp2 reactivated in the nervous tissue) | 4-HNE, 4-hydroxy-2-nonenal
Journal Article
Human molecular genetics, ISSN 0964-6906, 02/2011, Volume 20, Issue 4, pp. 731 - 751
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Translation. Translation factors. Protein processing | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Molecular genetics | NIH 3T3 Cells | Humans | Methyl-CpG-Binding Protein 2 - metabolism | Chromatin Assembly and Disassembly - genetics | MicroRNAs - metabolism | E1A-Associated p300 Protein - metabolism | Chromatin Assembly and Disassembly - drug effects | Retinoblastoma-Binding Protein 2 - metabolism | Immediate-Early Proteins - metabolism | Period Circadian Proteins - genetics | Light | HEK293 Cells | Suprachiasmatic Nucleus - metabolism | DNA-Binding Proteins | Tumor Suppressor Proteins - metabolism | Signal Transduction | Mice, Inbred C57BL | Circadian Rhythm - genetics | Computational Biology | Gene Expression Regulation | Mice, Transgenic | RNA Stability | Animals | Period Circadian Proteins - metabolism | Mice | MicroRNAs - genetics | Jumonji Domain-Containing Histone Demethylases | Index Medicus | Suprachiasmatic nucleus | Calcium | Transcription | CLOCK protein | BTG2 protein | Period 1 protein | Methyl-CpG binding protein | Entrainment | miRNA | Period 2 protein | Circadian rhythms | Obesity | Translation | mRNA turnover | Cyclic AMP | Light effects | Oscillators | Promoters | Chromatin remodeling | Neurological diseases | Period protein | Sleep | MeCP2 protein | Workers | Pacemakers | Cardiovascular diseases | Cancer
Journal Article
Journal Article