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PLoS pathogens, ISSN 1553-7374, 2013, Volume 9, Issue 11, p. e1003773
... with the mitochondrial adaptor protein MAVS (also known as IPS-1, CARDIF and VISA) and initiates a signalling cascade that culminates in the activation of the transcriptional... 
CELLS | DEFENSE | VIRUS-INFECTION | DISTINCT | RIG-I | MICROBIOLOGY | IRF-7 | ANTIVIRAL RESPONSE | VIROLOGY | GENE | SIGNALING PATHWAY | ADAPTER PROTEIN | PARASITOLOGY | Epithelial Cells - metabolism | Influenza A virus - genetics | Respiratory Mucosa - virology | Interferon Regulatory Factor-7 - genetics | Interferon Type I - immunology | Interferon Regulatory Factor-3 - genetics | Interleukins - metabolism | Orthomyxoviridae Infections - genetics | Respiratory Mucosa - pathology | Interleukins - genetics | Interleukins - immunology | Respiratory Mucosa - immunology | Adaptor Proteins, Signal Transducing - immunology | Interferon Type I - metabolism | Influenza A virus - immunology | Membrane Proteins - metabolism | Interferon Regulatory Factor-3 - immunology | Nerve Tissue Proteins - immunology | Membrane Proteins - genetics | Orthomyxoviridae Infections - metabolism | Epithelial Cells - pathology | Membrane Proteins - immunology | Interferon Regulatory Factor-7 - immunology | Interferon Regulatory Factor-7 - metabolism | Nerve Tissue Proteins - genetics | Mice, Knockout | Nerve Tissue Proteins - metabolism | Animals | Influenza A virus - metabolism | Epithelial Cells - immunology | Epithelial Cells - virology | Adaptor Proteins, Signal Transducing - genetics | Interferon Regulatory Factor-3 - metabolism | Interferon Type I - genetics | Mice | Respiratory Mucosa - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Orthomyxoviridae Infections - immunology | Epithelial cells | Influenza | Physiological aspects | Host-parasite relationships | Interferon | Genetic aspects | Genetic transcription | Research | Health aspects | Airway (Medicine) | Interleukins/metabolism | Nerve Tissue Proteins/immunology | Orthomyxoviridae Infections/genetics | Orthomyxoviridae Infections/metabolism | Membrane Proteins/genetics | Adaptor Proteins, Signal Transducing/genetics | Interferon Regulatory Factor-7/genetics | Interleukins/immunology | Membrane Proteins/immunology | Life Sciences | Orthomyxoviridae Infections/immunology | Influenza A virus/genetics | Nerve Tissue Proteins/metabolism | Respiratory Mucosa/immunology | Immunology | Interferon Type I/immunology | Epithelial Cells/immunology | Epithelial Cells/virology | Interferon Regulatory Factor-7/immunology | Epithelial Cells/metabolism | Interferon Regulatory Factor-3/immunology | Respiratory Mucosa/pathology | Influenza A virus/immunology | Interleukins/genetics | Interferon Regulatory Factor-3/genetics | Influenza A virus/metabolism | Adaptor Proteins, Signal Transducing/metabolism | Epithelial Cells/pathology | Adaptor Proteins, Signal Transducing/immunology | Interferon Type I/genetics | Interferon Regulatory Factor-3/metabolism | Membrane Proteins/metabolism | Nerve Tissue Proteins/genetics | Interferon Regulatory Factor-7/metabolism | Interferon Type I/metabolism | Respiratory Mucosa/metabolism | Respiratory Mucosa/virology | Cytokines | Genes | Rodents | Genomics | Genomes | Kinases | Experiments | Viral infections
Journal Article
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
Nature neuroscience, ISSN 1546-1726, 2012, Volume 15, Issue 11, pp. 1488 - 1497
... and that encode proteins that are essential... 
NEURODEGENERATIVE DISEASE | GENE | AMYOTROPHIC-LATERAL-SCLEROSIS | FAMILY PROTEINS | FUS PATHOLOGY | MUTATIONS | FRONTOTEMPORAL LOBAR DEGENERATION | BINDING | NEUROSCIENCES | BRAIN | NASCENT TRANSCRIPTION | RNA, Small Interfering - genetics | Protein Binding - genetics | Oligonucleotide Array Sequence Analysis | Humans | tau Proteins - metabolism | Gene Expression Profiling | RNA, Messenger - metabolism | Kv Channel-Interacting Proteins - metabolism | Brain - metabolism | Frontotemporal Dementia - metabolism | RNA Splicing - genetics | Frontotemporal Dementia - genetics | RNA-Binding Protein FUS - deficiency | Amyotrophic Lateral Sclerosis - genetics | Cell Cycle Proteins - metabolism | Ubiquitin-Protein Ligases - metabolism | RNA-Binding Protein FUS - genetics | Mice, Knockout | Motor Neurons - metabolism | Amyotrophic Lateral Sclerosis - pathology | Shal Potassium Channels - metabolism | Brain - pathology | Mice | Neurofilament Proteins - metabolism | RNA, Small Interfering - metabolism | Immunoprecipitation | Spinal Cord - metabolism | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | tau Proteins - genetics | Cell Cycle Proteins - genetics | Female | RNA Precursors - metabolism | Excitatory Amino Acid Transporter 2 - genetics | Membrane Proteins - metabolism | Frontotemporal Dementia - pathology | Gene Expression Regulation - genetics | Mice, Inbred C57BL | RNA, Messenger - genetics | RNA Precursors - genetics | Protein Structure, Tertiary - genetics | RNA-Binding Protein FUS - metabolism | DNA-Binding Proteins - genetics | Excitatory Amino Acid Transporter 2 - metabolism | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Histone-Lysine N-Methyltransferase - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Neural Cell Adhesion Molecules - metabolism | Neural Stem Cells - metabolism | Cell Line, Transformed | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Messenger RNA | Health aspects
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
PloS one, ISSN 1932-6203, 2017, Volume 12, Issue 7, p. e0177962
.... Several locations such as skin, adipose tissue, dental pulp or bone marrow have been described in rodent, as sources of NCSC... 
PROGENITOR CELLS | MESENCHYMAL STROMAL CELLS | STEM-CELLS | TRUNK | MULTIDISCIPLINARY SCIENCES | PERIODONTAL-LIGAMENT | ONTOGENY | GENERATION | SKIN-DERIVED PRECURSORS | DIFFERENTIATION | MELANOCYTES | RNA-Binding Proteins - genetics | Humans | Adipose Tissue - cytology | Melanocytes - metabolism | Neurons - cytology | Receptors, Nerve Growth Factor - metabolism | Neural Stem Cells - cytology | Schwann Cells - cytology | Neural Crest - metabolism | Adipose Tissue - metabolism | Mesenchymal Stromal Cells - cytology | Snail Family Transcription Factors - genetics | Melanocytes - cytology | Nestin - genetics | Adult | Female | Cell Differentiation | Neurons - metabolism | Dermis - cytology | Nuclear Proteins - genetics | Biomarkers - metabolism | SOX9 Transcription Factor - metabolism | Gene Expression | Neural Crest - cytology | Dermis - metabolism | Snail Family Transcription Factors - metabolism | Microinjections | Bone Marrow Cells - cytology | Neural Crest - growth & development | Mesenchymal Stromal Cells - metabolism | Nuclear Proteins - metabolism | Schwann Cells - metabolism | Transcription Factor Brn-3A - metabolism | Chick Embryo | Nerve Tissue Proteins - genetics | Receptors, Nerve Growth Factor - genetics | Nerve Tissue Proteins - metabolism | Nestin - metabolism | Animals | Transcription Factor Brn-3A - genetics | Twist-Related Protein 1 - genetics | Twist-Related Protein 1 - metabolism | Neural Stem Cells - metabolism | SOX9 Transcription Factor - genetics | Bone Marrow Cells - metabolism | Mesenchymal Stem Cell Transplantation | RNA-Binding Proteins - metabolism | Adipose tissues | Comparative analysis | Skin | Neurosciences | Nestin | Adipose tissue | Leukocyte migration | Laboratories | Sox9 protein | Dermis | Melanocytes | Nervous system | Human tissues | Regeneration (physiology) | Cell adhesion & migration | Msi1 protein | Plasticity (neural) | Ethics | Immunology | Pathways | Surgery | Bone marrow | Hair | Hematology | Neurons | Tissue engineering | Schwann cells | Brn-3 protein | Gene expression | Embryos | Neural crest | Medicine | Regeneration | Human performance | Stromal cells | Stem cells | Cell migration | Dental pulp
Journal Article
PloS one, ISSN 1932-6203, 2014, Volume 9, Issue 4, p. e94380
Nesprin-1-giant and nesprin-2-giant regulate nuclear positioning by the interaction of their C-terminal KASH domains with nuclear membrane SUN proteins and their N- terminal calponin-homology domains... 
REAL-TIME PCR | SKELETAL-MUSCLE | CELLS | ROLES | SUN PROTEINS | MULTIDISCIPLINARY SCIENCES | ENVELOPE | DREIFUSS MUSCULAR-DYSTROPHY | LAMIN A/C | ACTIN CYTOSKELETON | NUCLEAR-MEMBRANE PROTEIN | Embryonic Stem Cells - metabolism | Conserved Sequence - genetics | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Muscle, Skeletal - metabolism | Gene Expression Profiling | RNA, Messenger - metabolism | Organ Specificity - genetics | Nerve Tissue Proteins - chemistry | Protein Isoforms - metabolism | Proteolysis | Myocardium - metabolism | Microfilament Proteins - metabolism | Nuclear Proteins - genetics | Microfilament Proteins - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Microfilament Proteins - chemistry | Muscular Dystrophy, Emery-Dreifuss - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Exons - genetics | Nuclear Proteins - metabolism | Nuclear Proteins - chemistry | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Spleen - metabolism | Protein Isoforms - genetics | Analysis | Monoclonal antibodies | Muscles | Physiological aspects | Smooth muscle | Muscle proteins | Health aspects | Heart | Alternative splicing | Cardiomyopathy | Genes | Emery-Dreifuss muscular dystrophy | Homology | Kinases | Tissues | Muscular dystrophy | Western blotting | Proteins | Calponin | Cell growth | Actin | Bioinformatics | Heart diseases | Neuromuscular diseases | Immunoglobulins | Degradation products | Splicing | Gene expression | Skeletal muscle | Polymerase chain reaction | Dilated cardiomyopathy | Cell lines | Isoforms | Stem cells | Cytoskeleton | Mutation | Dystrophy
Journal Article