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Neuron, ISSN 0896-6273, 02/2013, Volume 77, Issue 3, pp. 472 - 484
Major outputs of the neocortex are conveyed by corticothalamic axons (CTAs), which form reciprocal connections with thalamocortical axons, and... 
MUTANT MICE | CORTICAL AXONS | THALAMOCORTICAL AXONS | GROWTH | SEMAPHORIN 3E | CENTRAL-NERVOUS-SYSTEM | GUIDANCE | CHICK HINDLIMB | CAJAL-RETZIUS CELLS | NEUROSCIENCES | CEREBRAL-CORTEX | Thyroid Nuclear Factor 1 | Age Factors | Embryo, Mammalian | Leukocyte L1 Antigen Complex - metabolism | Gene Expression Regulation, Developmental - genetics | Axons - physiology | Cerebral Cortex - cytology | Neural Pathways - physiology | DNA-Binding Proteins - metabolism | POU Domain Factors - genetics | tau Proteins - genetics | Thalamus - physiology | Contactin 2 - metabolism | Repressor Proteins - metabolism | Glycoproteins - genetics | Tumor Suppressor Proteins - metabolism | Wnt3A Protein - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Mice, Transgenic | Nuclear Proteins - metabolism | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Membrane Glycoproteins - genetics | Nerve Tissue Proteins - metabolism | S100 Calcium Binding Protein G - metabolism | Transcription Factors - metabolism | Animals | Calbindin 2 | Thalamus - cytology | Cerebral Cortex - physiology | Luminescent Proteins - genetics | Mice | Body Patterning - genetics | Luminescent Proteins - metabolism | Developmental biology | Neurons | Studies | Laboratories | Experiments | Repressor Proteins | Cerebral Cortex | Cellular Biology | Neural Pathways | tau Proteins | Life Sciences | Contactin 2 | Gene Expression Regulation, Developmental | Body Patterning | Thalamus | Membrane Glycoproteins | Luminescent Proteins | DNA-Binding Proteins | POU Domain Factors | Calcium-Binding Protein, Vitamin D-Dependent | Glycoproteins | Nerve Tissue Proteins | Nuclear Proteins | Membrane Proteins | Axons | Homeodomain Proteins | Leukocyte L1 Antigen Complex | Transcription Factors | Wnt3A Protein | Tumor Suppressor Proteins | reciprocal connections | handshake | waiting period | PlexinD1 | axon guidance | Sema3E | thalamocortical | corticothalamic
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4774 - 10
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from... 
CUTANEOUS MALIGNANT-MELANOMA | METAANALYSIS | SUN EXPOSURE | VARIANTS | MULTIDISCIPLINARY SCIENCES | GENETIC INFLUENCES | PREVALENCE | MELANOCYTIC NEVI | CANCER | TANNING RESPONSE | GENOME-WIDE ASSOCIATION | Cytochrome P-450 CYP1B1 - genetics | Humans | Stem Cell Factor - genetics | RNA-Binding Proteins | RNA - genetics | Telomere-Binding Proteins - genetics | Telomerase - genetics | Nevus, Pigmented - genetics | Group VI Phospholipases A2 - genetics | Melanoma - genetics | Genetic Pleiotropy - genetics | Nuclear Proteins - genetics | Microfilament Proteins - genetics | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Guanine Nucleotide Exchange Factors - genetics | Histone Deacetylases - genetics | Interferon Regulatory Factors - genetics | Repressor Proteins - genetics | Nerve Tissue Proteins - genetics | Carrier Proteins - genetics | Skin Neoplasms - genetics | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Receptors, G-Protein-Coupled - genetics | Bivariate analysis | Pathways | Interferon regulatory factor 4 | Genes | Melanoma | Nevus | Risk | Skin | Single-nucleotide polymorphism | Loci | PLA2G6 protein, human | risk assessment | cutaneous melanoma | Interferon Regulatory Factors | RNA | Medical and Health Sciences | KITLG protein, human | single nucleotide polymorphism | Repressor Proteins | carrier protein | repressor protein | Group VI Phospholipases A2 | Stn1 protein, human | pigmented nevus | G protein coupled receptor | genetic risk | genetic predisposition | skin tumor | PPARGC1B protein, human | telomerase RNA | Carrier Proteins | Basic Medicine | peroxisome proliferator activated receptor gamma coactivator 1beta | nerve protein | biology | gene | HDAC4 protein, human | Receptors, G-Protein-Coupled | Caucasian | melanoma | European Continental Ancestry Group | Genetic Pleiotropy | Nerve Tissue Proteins | histone deacetylase 4 | Guanine Nucleotide Exchange Factors | Nuclear Proteins | Clinical Medicine | Skin Neoplasms | Cytochrome P-450 CYP1B1 | interferon regulatory factor | DOCK8 protein, human | gene expression | cytochrome P450 1B1 | United States | meta analysis | Medicin och hälsovetenskap | Article | skin | pleiotropy | Klinisk medicin | nuclear protein | Medicinsk genetik | Medical Genetics | Netherlands | telomerase | genetics | human | stem cell factor | GPRC5A protein, human | phospholipase A2 group VI | telomere binding protein | meta-analysis | United Kingdom | Histone Deacetylases | interferon regulatory factor 4 | actin binding protein | SYNE2 protein, human | histone deacetylase | Telomere-Binding Proteins | gene locus | guanine nucleotide exchange factor | Microfilament Proteins | MicroRNAs | Nevus, Pigmented | genome-wide association study | Medicinska och farmaceutiska grundvetenskaper | microRNA | meta analysis (topic) | MIRN146 microRNA, human | cancer | Australia | Cancer and Oncology | CYP1B1 protein, human | interferon regulatory factor-4 | telomere homeostasis | Cancer och onkologi
Journal Article
Cell host & microbe, ISSN 1931-3128, 2013, Volume 13, Issue 4, pp. 395 - 405
Histone posttranslational modifications control eukaryotic gene expression and regulate many biological processes including immunity. Pathogens alter host... 
COMPLEX | METHYLATION | PROTEIN | METHYLTRANSFERASE | VIROLOGY | ACETYLATION | STRATEGY | TARGETS | MICROBIOLOGY | HISTONE MODIFICATIONS | VIRULENCE | PARASITOLOGY | Gene Expression - genetics | Humans | Immunity, Innate - genetics | Molecular Sequence Data | Legionella pneumophila - genetics | Promoter Regions, Genetic - genetics | Chromatin - immunology | Gene Expression - immunology | Bacterial Proteins - immunology | Nuclear Proteins - genetics | Amino Acid Sequence | Cell Line | Legionella pneumophila - immunology | Histones - immunology | Bacterial Proteins - genetics | Nuclear Proteins - immunology | Immunity, Innate - immunology | Sequence Alignment | Histones - genetics | DNA Replication - immunology | DNA Replication - genetics | Transcription, Genetic - immunology | Promoter Regions, Genetic - immunology | Transcription, Genetic - genetics | Methylation | Chromatin - genetics | Chromatin | Analysis | Genes | Transferases | Histones | Legionella pneumophila | Bacterial genetics | Gene expression | Bacterial Proteins/immunology | Nuclear Proteins/immunology | Promoter Regions, Genetic/genetics | DNA Replication/genetics | Cellular Biology | Chromatin/immunology | Legionella pneumophila/genetics | Life Sciences | DNA Replication/immunology | Transcription, Genetic/genetics | Transcription, Genetic/immunology | Nuclear Proteins/genetics | Immunity, Innate/immunology | Promoter Regions, Genetic/immunology | Immunity, Innate/genetics | Histones/immunology | Bacterial Proteins/genetics | Legionella pneumophila/immunology | Chromatin/genetics | Gene Expression/immunology | Histones/genetics | Gene Expression/genetics
Journal Article
The Journal of neuroscience, ISSN 1529-2401, 2012, Volume 32, Issue 8, pp. 2628 - 2636
...) regulates axon termination and synapse formation. To understand the mechanism of how rpm-1 functions, we have used mass spectrometry to identify RPM-1 binding proteins, and have identified RAE-1... 
REGULATOR | GENE | MAP KINASE PATHWAY | SYNAPTOGENESIS | NUCLEAR-PORE COMPLEX | NEURONS | RNA EXPORT FACTOR | C-ELEGANS | RPM-1 | NUP98 | NEUROSCIENCES | Protein Binding - genetics | Immunoprecipitation | Humans | Caenorhabditis elegans Proteins - metabolism | Molecular Sequence Data | rab GTP-Binding Proteins - genetics | Axons - physiology | Synapses - genetics | Amino Acid Sequence - genetics | Guanine Nucleotide Exchange Factors - metabolism | Mass Spectrometry | Mechanoreceptors - cytology | rab GTP-Binding Proteins - metabolism | Guanine Nucleotide Exchange Factors - genetics | Animals, Genetically Modified | F-Box Proteins - metabolism | Gene Expression Regulation - genetics | Synapses - physiology | Ubiquitin-Protein Ligases - metabolism | Nuclear Matrix-Associated Proteins - metabolism | Signal Transduction - genetics | Mutation - genetics | Nucleocytoplasmic Transport Proteins - genetics | Caenorhabditis elegans | Microscopy, Confocal | Nuclear Matrix-Associated Proteins - deficiency | Animals | Nucleocytoplasmic Transport Proteins - metabolism | Nuclear Matrix-Associated Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Luminescent Proteins - genetics | Nucleocytoplasmic Transport Proteins - deficiency | Adaptor Proteins, Signal Transducing - metabolism | Amino Acid Motifs - genetics | Ubiquitin-Protein Ligases - genetics | Caenorhabditis elegans Proteins - genetics | F-Box Proteins - genetics
Journal Article
PLoS genetics, ISSN 1553-7404, 2010, Volume 6, Issue 2, p. e1000841
Journal Article
Nature (London), ISSN 1476-4687, 2012, Volume 488, Issue 7409, pp. 106 - 110
Medulloblastomas are themost commonmalignant brain tumours in children(1). Identifying and understanding the genetic events that drive these tumours is critical... 
COMPLEX | STRUCTURAL BASIS | LANDSCAPE | CHILDHOOD | MULTIDISCIPLINARY SCIENCES | GENES | Transcription Factors - chemistry | Humans | Hedgehog Proteins - metabolism | Wnt Proteins - metabolism | Promoter Regions, Genetic - genetics | Tumor Suppressor Protein p53 - genetics | TCF Transcription Factors - metabolism | Patched Receptors | Cerebellar Neoplasms - classification | DEAD-box RNA Helicases - metabolism | Medulloblastoma - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Child | DEAD-box RNA Helicases - chemistry | DNA Helicases - genetics | Intracellular Signaling Peptides and Proteins - genetics | DNA Helicases - chemistry | Histone-Lysine N-Methyltransferase - genetics | Signal Transduction | Models, Molecular | Repressor Proteins - genetics | Proto-Oncogene Proteins - genetics | Protein Structure, Tertiary - genetics | Cerebellar Neoplasms - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nuclear Proteins - chemistry | beta Catenin - metabolism | Genome, Human - genetics | beta Catenin - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Histone Methyltransferases | Histone-Lysine N-Methyltransferase - metabolism | LIM Domain Proteins - genetics | Medulloblastoma - classification | Patched-1 Receptor | Receptors, Cell Surface - genetics | Medulloblastoma | Physiological aspects | Development and progression | Genetic aspects | Research | Nucleotide sequencing | Metastasis | DNA sequencing | Cancer
Journal Article
Nature (London), ISSN 1476-4687, 2012, Volume 489, Issue 7415, pp. 313 - 317
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for nearly 60... 
SISTER-CHROMATID COHESION | NIPPED-B | COMPLEX | NIPBL | HUMAN GENOME | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | X-CHROMOSOME-INACTIVATION | S-PHASE | PROTEINS | BINDING | Chromatin - metabolism | Chondroitin Sulfate Proteoglycans - chemistry | Humans | Crystallography, X-Ray | Male | Phosphoproteins - metabolism | Cell Cycle Proteins - chemistry | Chromatin Immunoprecipitation | Repressor Proteins - deficiency | De Lange Syndrome - metabolism | Fibroblasts | Female | Transcription, Genetic | Acetylation | Binding Sites | Repressor Proteins - metabolism | De Lange Syndrome - genetics | Repressor Proteins - chemistry | Chromosomal Proteins, Non-Histone - metabolism | Histone Deacetylases - genetics | Cell Cycle Proteins - metabolism | Chondroitin Sulfate Proteoglycans - metabolism | Histone Deacetylases - chemistry | Histone Deacetylases - deficiency | Mutant Proteins - genetics | Prophase | Models, Molecular | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Proteins - genetics | Mutant Proteins - chemistry | Protein Conformation | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Anaphase | Chromatin - genetics | Chromosomal Proteins, Non-Histone - chemistry | Genetics | De Lange syndrome | Genetic aspects | Research | Mutation (Biology) | Proteins | Cell culture | Genes | Cell cycle | Mutation | Females | Chromosomes | Crystal structure | Chromatin | Repressor Proteins | Life Sciences | Phosphoproteins | Chromosomal Proteins, Non-Histone | Histone Deacetylases | De Lange Syndrome | Chondroitin Sulfate Proteoglycans | Nuclear Proteins | Mutant Proteins | Adaptor Proteins, Signal Transducing | Development Biology | Cell Cycle Proteins
Journal Article
by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and The Deciphering Developmental Disorders Study and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2014, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Repressor Proteins | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth
Journal Article