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1. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by McRae, Jeremy F and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Barrett, Daniel M and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Ahmed, Munaza and Anjum, Uruj and Barnicoat, Angela and Batstone, Paul and Bevan, A. Paul and Blyth, Moira and Canham, Natalie and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Coates, Andrea and Collinson, Morag N and Cooper, Nicola and Cox, Helen and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and De Vries, Dylan and Deshpande, Charu and Devlin, Gemma and Dobbie, Angus and Donnai, Dian and Ellard, Sian and Elmslie, Frances and Fry, Andrew and Gaunt, Lorraine and Gray, Emma and Harrison, Rachel and Harrison, Victoria and Henderson, Alex and Hewitt, Sarah and Holden, Simon and Holder, Susan and Hollingsworth, Georgina and Homfray, Tessa and Hurst, Jane and Jarvis, Joanna and Kaemba, Beckie and Kazembe, Sandra and Kelsell, Rosemary and Kerr, Bronwyn and Kinning, Esther and Kivuva, Emma and Kumar, Dhavendra and Ajith Kumar, V.K and Lam, Wayne and Langman, Caroline and Marks, Karen and McConnell, Vivienne and McKee, Shane and McMullan, Dominic J and Mehta, Sarju and Middleton, Anna and Montgomery, Tara and Naik, Swati and Nevitt, Louise and Newbury-Ecob, Ruth and Norman, Andrew and O'Shea, Rosie and Park, Soo-Mi and Patel, Chirag and Payne, Stewart and Phipps, Julie and Pilz, Daniela T and Pottinger, Caroline and Pratt, Norman and Prescott, Katrina and Price, Sue and Rahbari, Raheleh and Raymond, Lucy and Roberts, Jonathan and Roberts, Paul and Selby, Ann and Seller, Anneke and Sheridan, Eamonn and Smith, Kath and Smithson, Sarah and Splitt, Miranda and Squires, Miranda and Stewart, Fiona and Suri, Mohnish and Sutton, Vivienne and Swaminathan, Ganesh Jawahar and Turnpenny, Peter and Tysoe, Carolyn and Vogt, Julie and Wellesley, Diana and Wright, Michael and Nellåker, Chris and FitzPatrick, David R and Barrett, Jeffrey C 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 GNAI1 Suppresses Tumor Cell Migration and Invasion and is Post-Transcriptionally Regulated by Mir-320a/c/d in Hepatocellular Carcinoma
by Jian Yao and Lin-hui Liang and Yu Zhang and Jie Ding and Qi Tian and Jin-jun Li and Xiang-huo He
Cancer biology & medicine, ISSN 2095-3941, 12/2012, Volume 9, Issue 4, pp. 234 - 241
invasion | miR-320 | migration | HCC | GNAI1
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4. Full Text Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6
by Kilander, Michaela B. C and Petersen, Julian and Andressen, Kjetil Wessel and Ganji, Ranjani Sri and Levy, Finn Olav and Schuster, Jens and Dahl, Niklas and Bryja, Vitezslav and Schulte, Gunnar
The FASEB journal, ISSN 0892-6638, 05/2014, Volume 28, Issue 5, pp. 2293 - 2305
WNT‐5A | GPCR | GNAQ | GNAI1 | WNT-5A | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Proto-Oncogene Proteins - metabolism | Green Fluorescent Proteins - metabolism | Fluorescence Recovery After Photobleaching | Humans | Frizzled Receptors - metabolism | Heterotrimeric GTP-Binding Proteins - metabolism | Extracellular Signal-Regulated MAP Kinases - metabolism | Wnt-5a Protein | Phosphoproteins - metabolism | Wnt Proteins - metabolism | HEK293 Cells | Fluorescence Resonance Energy Transfer | Protein Binding | Cell Membrane - metabolism | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Dishevelled Proteins | Index Medicus | Medicin och hälsovetenskap
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5. Full Text GNAI1 suppresses tumor cell migration and invasion and is post-transcriptionally regulated by MiR-320a/c/d in hepatocellular carcinoma
by Yao, Jian and Liang, Lin-Hui and Zhang, Yu and Ding, Jie and Tian, Qi and Li, Jin-Jun and He, Xiang-Huo
Cancer biology & medicine, ISSN 2095-3941, 12/2012, Volume 9, Issue 4, pp. 234 - 241
HCC | Migration | GNAI1 | Invasion | MiR-320 | Post-transcription | Liver cancer | Protein G | Hepatocellular carcinoma | miRNA | siRNA | Guanine nucleotide-binding protein | Cell migration | Investigations | Guanine | Metastases | Cell adhesion & migration | migration | invasion | Original | miR-320
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6. Full Text Integrated analysis of omics data using microRNA-target mRNA network and PPI network reveals regulation of Gnai1 function in the spinal cord of Ews/Ewsr1 KO mice
by Lee, Chai-Jin and Ahn, Hongryul and Lee, Sean Bong and Shin, Jong-Yeon and Park, Woong-Yang and Kim, Jong-Il and Lee, Junghee and Ryu, Hoon and Kim, Sun
BMC medical genomics, ISSN 1755-8794, 08/2016, Volume 9, Issue Suppl 1, pp. 33 - 33
EWS | PPI | Gnai1 | Ewsr1 | MMIA | Network analysis | Calmodulin-Binding Proteins - genetics | RNA-Binding Proteins - genetics | Spinal Cord - metabolism | RNA, Messenger - genetics | Computational Biology | Gene Expression Profiling | Gene Regulatory Networks | Mice, Knockout | Protein Interaction Mapping | Animals | Sequence Analysis, RNA | Mice | MicroRNAs - genetics | Calmodulin-Binding Proteins - deficiency | GTP-Binding Protein alpha Subunits, Gi-Go - metabolism | Gene Ontology | RNA-Binding Protein EWS | Physiological aspects | Genetic aspects | MicroRNA | Research | Genetic transcription | Protein-protein interactions | Index Medicus
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7. Full Text Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6
by Kilander, Michaela B. C and Petersen, Julian and Andressen, Kjetil Wessel and Ganji, Ranjani Sri and Levy, Finn Olav and Schuster, Jens and Dahl, Niklas and Bryja, Vitezslav and Schulte, Gunnar
2014, Volume 28, Issue 5
Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | GNAQ | Medicinska och farmaceutiska grundvetenskaper | GPCR | WNT-5A | GNAI1
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