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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, ISSN 0028-0836, 02/2017, 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
Journal of Neuroscience, ISSN 0270-6474, 10/2008, Volume 28, Issue 41, pp. 10415 - 10421
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2016, Volume 11, Issue 7, p. e0159632
Journal Article
Molecular and Cellular Neuroscience, ISSN 1044-7431, 11/2013, Volume 57, pp. 42 - 53
In this study, we assayed the capability of four genes implicated in embryonic specification of the cortico-cerebral field, , , and , to reprogramme mouse... 
Neuronal differentiation | Neural stem cells | Cerebral cortex | Pax6 | Fibroblasts reprogramming | Foxg1 | MOUSE FIBROBLASTS | DEFINED FACTORS | EMX2 | DIRECT CONVERSION | HELIX TRANSCRIPTION FACTOR | NEUROSCIENCES | CEREBRAL-CORTEX | P53 | PLURIPOTENT STEM-CELLS | SMALL-MOLECULE COMPOUNDS | EXPRESSION | Paired Box Transcription Factors - genetics | Brain - embryology | LIM-Homeodomain Proteins - metabolism | Homeodomain Proteins - metabolism | tau Proteins - metabolism | Neural Stem Cells - cytology | Neurogenesis | Tumor Suppressor Protein p53 - genetics | Cellular Reprogramming | SOXB1 Transcription Factors - metabolism | Brain - metabolism | Bone Morphogenetic Proteins - metabolism | tau Proteins - genetics | SOXB1 Transcription Factors - genetics | Forkhead Transcription Factors - metabolism | Gene Expression Regulation, Developmental | Eye Proteins - genetics | Bone Morphogenetic Proteins - genetics | Repressor Proteins - metabolism | Fibroblasts - metabolism | Brain - cytology | Tumor Suppressor Protein p53 - metabolism | Repressor Proteins - genetics | PAX6 Transcription Factor | Transcription Factors - genetics | Forkhead Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | LIM-Homeodomain Proteins - genetics | Animals | Transforming Growth Factor beta - genetics | Eye Proteins - metabolism | Histone Deacetylase Inhibitors - pharmacology | Fibroblasts - cytology | Mice | Neural Stem Cells - metabolism | Transforming Growth Factor beta - metabolism | Paired Box Transcription Factors - metabolism | Genetic research | Transforming growth factors | Genes
Journal Article
Journal Article
by Zhu, WL and Zhang, BY and Li, MQ and Mo, F and Mi, TW and Wu, YH and Teng, ZQ and Zhou, Q and Li, W and Hu, BY
NATURE COMMUNICATIONS, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 928 - 18
Journal Article
Human Mutation, ISSN 1059-7794, 06/2010, Volume 31, Issue 6, pp. 722 - 733
Journal Article
Molecules, ISSN 1420-3049, 2018, Volume 23, Issue 7, p. 1517
Recent studies suggest that the commensal microbiota affects not only host energy metabolism and development of immunity but also bone remodeling by positive... 
Insulin-like growth factor-1 | Osteoblast | Commensal microbiota | Osteocalcin | Bone remodeling | ANDROGEN RECEPTOR | GUT-MICROBIOTA | BIOCHEMISTRY & MOLECULAR BIOLOGY | osteoblast | GERM-FREE | CHEMISTRY, MULTIDISCIPLINARY | BONE-RESORPTION | INSULIN | commensal microbiota | CELL-MIGRATION | CATHEPSIN-K | GROWTH | osteocalcin | bone remodeling | MICE | DIFFERENTIATION | GATA3 Transcription Factor - genetics | RANK Ligand - metabolism | Alkaline Phosphatase - metabolism | Osteocalcin - genetics | Symbiosis - physiology | Male | Gastrointestinal Microbiome - physiology | Insulin-Like Growth Factor I - genetics | Osteoclasts - cytology | Forkhead Transcription Factors - metabolism | Osteoprotegerin - genetics | Osteoblasts - cytology | GATA3 Transcription Factor - metabolism | Osteoclasts - microbiology | Osteogenesis - genetics | Biomarkers - metabolism | Alkaline Phosphatase - genetics | Osteocalcin - metabolism | Gene Expression Regulation | Forkhead Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Osteoclasts - metabolism | Nerve Tissue Proteins - metabolism | RANK Ligand - genetics | Cathepsin K - genetics | Animals | Cathepsin K - metabolism | Germ-Free Life | Mice | Osteoblasts - microbiology | Bone Remodeling - genetics | Osteoprotegerin - metabolism | Osteoblasts - metabolism | Insulin-Like Growth Factor I - metabolism | Glutamic acid | Alkaline phosphatase | Energy metabolism | Transcription factors | Phosphatase | Immunity | Osteoblasts | Osteoprotegerin | Proteins | Microbiota | Computed tomography | Mineralization | Acid resistance | Animal tissues | Forkhead protein | Biocompatibility | Bones | Growth factors | NF-κB protein | Gnotobiotics | Cathepsin K | Bone remodelling | Alveolar bone | Gene expression | Metabolism | Ribonucleic acid--RNA | Insulin | GATA-binding protein | Serum levels | Polymerase chain reaction | Acids | Body size | Osteoclasts | Bone mineral density | Acid phosphatase (tartrate-resistant) | Acid phosphatase
Journal Article