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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 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
The Journal of biological chemistry, ISSN 0021-9258, 02/2015, Volume 290, Issue 8, pp. 4908 - 4927
synGAP is a neuron-specific Ras and Rap GTPase-activating protein (GAP) found in high concentrations in the postsynaptic density (PSD... 
NMDA RECEPTOR | DOMAIN | STIMULATION | INHIBITION | CALPAIN | CLONING | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATIONS | HIPPOCAMPAL-NEURONS | PLASTICITY | Oncogene Proteins - genetics | ras Proteins - genetics | Phosphorylation | ras GTPase-Activating Proteins - chemistry | rap1 GTP-Binding Proteins - chemistry | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Receptors, N-Methyl-D-Aspartate - metabolism | ras Proteins - metabolism | Neurons - cytology | GTPase-Activating Proteins - metabolism | Receptors, N-Methyl-D-Aspartate - genetics | Cyclin-Dependent Kinase 5 - chemistry | Cyclin-Dependent Kinase 5 - genetics | ras GTPase-Activating Proteins - genetics | Receptors, N-Methyl-D-Aspartate - chemistry | ras Proteins - chemistry | Proto-Oncogene Proteins p21(ras) - chemistry | Calcium-Calmodulin-Dependent Protein Kinase Type 2 - metabolism | Proto-Oncogene Proteins p21(ras) - metabolism | rap1 GTP-Binding Proteins - metabolism | ras GTPase-Activating Proteins - metabolism | Oncogene Proteins - chemistry | Cells, Cultured | Oncogene Proteins - metabolism | Rats | Synapses - enzymology | GTPase-Activating Proteins - chemistry | Cyclin-Dependent Kinase 5 - metabolism | Calcium-Calmodulin-Dependent Protein Kinase Type 2 - genetics | Animals | Calcium-Calmodulin-Dependent Protein Kinase Type 2 - chemistry | Neurons - enzymology | GTPase-Activating Proteins - genetics | rap1 GTP-Binding Proteins - genetics | rap GTP-Binding Proteins | Ras Protein | Ras-related Protein 1 (Rap1) | Postsynaptic Density | Ca2 | Synaptic Plasticity | Small GTPase | Neurobiology | Mass Spectrometry (MS) | Cyclin-dependent Kinase 5 (CDK5) | Protein Kinase | Calmodulin-dependent Protein Kinase II (CaMKII) | Synaptic GTPase-activating Protein (synGAP)
Journal Article
eLife, ISSN 2050-084X, 2014, Volume 3, p. e01612
... mitochondria remains unclear. In this study, we demonstrate that TBC1D15, a mitochondrial Rab GTPase-activating protein (Rab-GAP... 
Fis1 | rab7 | autophagy | TBC1D15 | Drp1 | Parkin | PARKIN | FIS1 | RECRUITMENT | GTPASE-ACTIVATING PROTEINS | MEMBRANE | PEROXISOMAL FISSION | P62/SQSTM1 | BIOLOGY | DEGRADATION | MAMMALIAN-CELLS | SELECTIVE AUTOPHAGY | Mitochondria - enzymology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Protein Multimerization | rab GTP-Binding Proteins - genetics | Mitochondrial Proteins - genetics | GTPase-Activating Proteins - metabolism | Autophagy | Microtubules - metabolism | Ubiquitination | Lysosomes - metabolism | Transfection | Time Factors | Mitochondrial Proteins - metabolism | HEK293 Cells | Lysosomes - pathology | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | rab GTP-Binding Proteins - metabolism | Signal Transduction | Membrane Proteins - genetics | HCT116 Cells | Ubiquitin-Protein Ligases - metabolism | Mitochondria - pathology | Mitochondrial Degradation | Autophagy-Related Protein 8 Family | Adaptor Proteins, Signal Transducing - genetics | Protein Binding | GTPase-Activating Proteins - genetics | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Ubiquitin-Protein Ligases - genetics | Membranes | Yeast | Cloning | Glycerol | Guanosine triphosphatases | Mammals | Morphogenesis | Proteins | Mitochondria | GTPase-activating protein | Microscopy | PTEN-induced putative kinase | Morphology | Parkin protein | GABARAP protein
Journal Article
Cellular signalling, ISSN 0898-6568, 2012, Volume 24, Issue 4, pp. 826 - 834
Journal Article
PloS one, ISSN 1932-6203, 2010, Volume 5, Issue 2, p. e8918
Background: Glioblastoma multiforme (GBM) is the most common and aggressive type of brain tumor in humans and the first cancer with comprehensive genomic... 
GLIOMAS | PROTEIN-INTERACTION NETWORKS | HUMAN-DISEASE | BIOLOGICAL NETWORKS | METABOLIC NETWORKS | MULTIDISCIPLINARY SCIENCES | FUNCTIONAL MODULES | GENES | CANCER GENOME | PIKE-A | INTEGRATED ANALYSIS | Genetic Predisposition to Disease | Humans | Brain Neoplasms - genetics | Signal Transduction - genetics | Gene Regulatory Networks | GTP-Binding Proteins - genetics | Tumor Suppressor Protein p53 - genetics | Phosphatidylinositol 3-Kinases - genetics | Algorithms | Glioblastoma - genetics | Retinoblastoma Protein - genetics | Models, Genetic | Software | GTPase-Activating Proteins - genetics | Mutation | Genes | Brain tumors | Genomics | Natural language interfaces | Genomes | Protein-protein interactions | Technology application | Mobile communication systems | Wireless communication systems | Language processing | Analysis | Genetic aspects | Computational linguistics | Tumor proteins | Health aspects | Protein kinases | Cancer | Brain | Copy number | Modules | p53 Protein | Brain cancer | Glioblastoma | Biology | Metastasis | Software development tools | Kinases | Proteins | Signal transduction | Alterations | Pathways | Cellular communication | Network analysis | Phylogenetics | Bioinformatics | Deoxyribonucleic acid--DNA | Cartography | Nucleotide sequence | Retinoblastoma protein | Metabolism | Gene expression | Glioblastoma multiforme | 1-Phosphatidylinositol 3-kinase | Endothelium | Signaling | Hypotheses | Passengers | Protein interaction | Tumors | Deoxyribonucleic acid | DNA
Journal Article
Molecular & cellular proteomics, ISSN 1535-9476, 05/2015, Volume 14, Issue 5, pp. 1385 - 1399
Several cytoplasmic proteins that are involved in G protein-coupled receptor signaling cascades are known to translocate to the plasma membrane upon receptor activation, such as beta-arrestin2... 
LOCALIZATION | RESPONSES | ACTIVATION | INTERACTS | CALCIUM | BIOCHEMICAL RESEARCH METHODS | DYNAMICS | CHLORIDE CHANNEL | PLASMA-MEMBRANE | MAMMALIAN-CELLS | FAMILY | Humans | Receptors, Neurokinin-2 - genetics | Green Fluorescent Proteins - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Chloride Channels - genetics | GTPase-Activating Proteins - metabolism | Tumor Suppressor Proteins - genetics | HEK293 Cells | Biological Assay | Membrane Proteins - metabolism | Receptors, Neurokinin-2 - metabolism | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Genes, Reporter | Recombinant Proteins - metabolism | Green Fluorescent Proteins - metabolism | Tumor Suppressor Proteins - metabolism | Signal Transduction | Membrane Proteins - genetics | Bacterial Proteins - genetics | Gene Expression Regulation | Molecular Imaging - methods | Nuclear Proteins - metabolism | Recombinant Proteins - genetics | Thyroid Hormones - genetics | Nerve Tissue Proteins - genetics | Protein Transport | Chloride Channels - metabolism | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Carrier Proteins - metabolism | Thyroid Hormones - metabolism | Adaptor Proteins, Signal Transducing - genetics | Bacterial Proteins - metabolism | Luminescent Proteins - genetics | GTPase-Activating Proteins - genetics | Adaptor Proteins, Signal Transducing - metabolism | Luminescent Proteins - metabolism | Life Sciences | Biochemistry, Molecular Biology | Research
Journal Article
Journal of Dental Research, ISSN 0022-0345, 9/2014, Volume 93, Issue 9, pp. 882 - 890
..., osteoporosis, and vitamin D deficiency (Genco and Borgnakke, 2013). The investigation of genetic factors in CP has been based on early twin and family studies (Michalowicz... 
genomics | genetics | bacteria | pathway analysis | inflammation | periodontal disease | PATHWAYS | POPULATION | SUSCEPTIBILITY | ADULTS | RECEPTOR | ATHEROSCLEROSIS RISK | CIRCADIAN CLOCK | DENTISTRY, ORAL SURGERY & MEDICINE | DISEASE | HEALTH | Prospective Studies | Tumor Necrosis Factor Decoy Receptors - genetics | Microtubule-Associated Proteins - genetics | Cytoskeletal Proteins - genetics | Atherosclerosis - genetics | Humans | Middle Aged | Apoptosis - genetics | Male | Monoacylglycerol Lipases - genetics | Receptors, Peptide - genetics | Receptors, Tumor Necrosis Factor, Member 10c | ras GTPase-Activating Proteins - genetics | Chronic Periodontitis - microbiology | Chronic Periodontitis - genetics | Adult | Female | Atherosclerosis - microbiology | Adaptor Protein Complex beta Subunits - genetics | Nuclear Proteins - genetics | Porphyromonas gingivalis - genetics | Genome-Wide Association Study | Genetic Association Studies | Membrane Proteins - genetics | Risk Factors | Linkage Disequilibrium - genetics | Potassium Channels, Tandem Pore Domain - genetics | Chromosome Mapping | Membrane Glycoproteins - genetics | Aggregatibacter actinomycetemcomitans - genetics | Adaptor Protein Complex 3 - genetics | Polymorphism, Single Nucleotide - genetics | Aged | Receptors, G-Protein-Coupled - genetics | Mucins - genetics | Cohort Studies | GPI-Linked Proteins - genetics | Research Reports
Journal Article
PloS one, ISSN 1932-6203, 2016, Volume 11, Issue 1, p. e0147758
A critical and understudied property of endothelial cells is their ability to form lumens and tube networks. Although considerable information has been... 
COLLAGEN MATRIX | 3-DIMENSIONAL EXTRACELLULAR MATRICES | VASCULAR LUMEN FORMATION | IN-VITRO | CELL MORPHOGENESIS | ANGIOGENESIS | ACTIVATING PROTEIN | MULTIDISCIPLINARY SCIENCES | CAPILLARY LUMEN | BLOOD-VESSEL FORMATION | MOLECULAR-MECHANISMS | rap GTP-Binding Proteins - antagonists & inhibitors | ras Proteins - genetics | p120 GTPase Activating Protein - metabolism | Humans | rac GTP-Binding Proteins - metabolism | ras Proteins - metabolism | Male | cdc42 GTP-Binding Protein - metabolism | Phosphoproteins - antagonists & inhibitors | GTPase-Activating Proteins - metabolism | p120 GTPase Activating Protein - genetics | Phosphoproteins - metabolism | rac GTP-Binding Proteins - antagonists & inhibitors | Tubulin - metabolism | RNA Interference | rac GTP-Binding Proteins - genetics | cdc42 GTP-Binding Protein - antagonists & inhibitors | rap GTP-Binding Proteins - genetics | Phorbol Esters - pharmacology | Female | Cell Line | Endothelial Cells - metabolism | GTPase-Activating Proteins - antagonists & inhibitors | ras Proteins - antagonists & inhibitors | Phosphoproteins - genetics | p120 GTPase Activating Protein - antagonists & inhibitors | Animals | Signal Transduction - drug effects | Endothelial Cells - cytology | cdc42 GTP-Binding Protein - genetics | Cytoskeleton - metabolism | Vacuoles - metabolism | Mice | GTPase-Activating Proteins - genetics | rap GTP-Binding Proteins - metabolism | Microscopy, Fluorescence | Endothelial Cells - drug effects | Physiological aspects | Genetic aspects | Cellular signal transduction | Research | Guanosine triphosphatase | Endothelium | Cdc42 protein | Polarization | Membranes | Raf protein | K-Ras protein | Morphogenesis | Proteins | Lumens | Tubulin | Actin | IQGAP1 protein | Tubes | Physiology | Growth factors | Skewed distributions | RhoA protein | Rac1 protein | Guanosine triphosphatases | Pharmacology | siRNA | Rac2 protein | Endothelial cells | Effectors | Cytoskeleton | Membrane trafficking | Regulation | Molecular biology | Vacuoles | Integrins | Guanosinetriphosphatase
Journal Article
Cell (Cambridge), ISSN 0092-8674, 2004, Volume 116, Issue 3, pp. 405 - 415
The FLO gene family of Saccharomyces cerevisiae includes an expressed gene, FLO11, and a set of silent, telomere-adjacent FLO genes. This gene family encodes... 
TRYPANOSOMA-BRUCEI | INVASIVE GROWTH | BIOCHEMISTRY & MOLECULAR BIOLOGY | PILIN ANTIGENIC VARIATION | RIBOSOMAL DNA | SIR PROTEINS | ALBICANS | PATHOGEN CANDIDA-GLABRATA | SACCHAROMYCES-CEREVISIAE | PSEUDOHYPHAL DIFFERENTIATION | EXPRESSION | CELL BIOLOGY | RNA-Binding Proteins - genetics | Membrane Glycoproteins - metabolism | Saccharomyces cerevisiae - genetics | Promoter Regions, Genetic - genetics | Saccharomyces cerevisiae - metabolism | Cell Differentiation - genetics | Sirtuin 2 | Trans-Activators - genetics | Gene Expression Regulation, Fungal - genetics | Nuclear Proteins - genetics | Sirtuins - genetics | Extrachromosomal Inheritance - genetics | Repressor Proteins - metabolism | GTPase-Activating Proteins | Histone Deacetylases - genetics | Membrane Proteins - genetics | Cells, Cultured | Cell Wall - genetics | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Nuclear Proteins - metabolism | Fungal Proteins - genetics | Saccharomyces cerevisiae Proteins - genetics | Clone Cells - metabolism | Membrane Glycoproteins - genetics | Cell Wall - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Trans-Activators - metabolism | Genetic Variation - genetics | Gene Silencing - physiology | Sirtuins - metabolism | RNA-Binding Proteins - metabolism | Fungal Proteins - metabolism | Genetic code | Genetic aspects | Research | Brewer's yeast
Journal Article