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Science Signaling, ISSN 1945-0877, 09/2012, Volume 5, Issue 241, pp. pe38 - pe38
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 507, Issue 7491, pp. 195 - 200
Journal Article
Nature, ISSN 0028-0836, 02/2018, Volume 554, Issue 7690, pp. 112 - 117
Many craniofacial disorders are caused by heterozygous mutations in general regulators of housekeeping cellular functions such as transcription or ribosome... 
PATHOGENESIS | CELLS | PROTEIN | ENDONUCLEASE | RNA HELICASE DDX21 | DNA | MULTIDISCIPLINARY SCIENCES | PREVENTION | TREACHER-COLLINS-SYNDROME | NEURAL CREST | P53 | Xenopus | Chromatin - metabolism | Cell Nucleolus - pathology | Embryonic Stem Cells - cytology | Mandibulofacial Dysostosis - embryology | Humans | Protein Transport - drug effects | DNA-Directed RNA Polymerases - deficiency | RNA, Ribosomal - genetics | RNA Polymerase I - antagonists & inhibitors | Mandibulofacial Dysostosis - genetics | Cell Nucleus - metabolism | Skull - pathology | Nuclear Proteins - deficiency | Cell Nucleolus - drug effects | Stress, Physiological - drug effects | Neural Crest - enzymology | Benzothiazoles - pharmacology | Phenotype | Zebrafish Proteins - deficiency | Ribosomes - genetics | Mice | DNA Damage | HeLa Cells | Embryonic Stem Cells - metabolism | RNA Helicases - metabolism | Mandibulofacial Dysostosis - pathology | Neural Crest - pathology | Ribosomal Proteins - biosynthesis | Ribosomes - metabolism | DNA, Ribosomal - metabolism | Phosphoproteins - metabolism | Zebrafish - embryology | Cell Nucleus - pathology | Cell Nucleolus - metabolism | DEAD-box RNA Helicases - deficiency | DEAD-box RNA Helicases - metabolism | Nuclear Proteins - genetics | DNA, Ribosomal - genetics | Cell Nucleolus - genetics | Ribosomal Proteins - genetics | Tumor Suppressor Protein p53 - metabolism | RNA, Ribosomal - metabolism | Nuclear Proteins - metabolism | Phosphoproteins - genetics | Organ Specificity | DEAD-box RNA Helicases - genetics | Animals | Phosphoproteins - deficiency | RNA, Ribosomal - biosynthesis | Cell Nucleus - drug effects | Naphthyridines - pharmacology | Apoptosis | Nucleolus organizer region | Genetic aspects | Gene mutations | Observations | Neural crest | Craniofacial dysostosis | Chromatin | Transcription | Genomics | p53 Protein | Genes | DNA damage | Ribosomal DNA | Disorders | Homeostasis | Biosynthesis | Genomes | DNA-directed RNA polymerase | Proteins | DNA helicase | Nucleoli | Embryogenesis | Cell activation | RNA processing | Chemical synthesis | Deoxyribonucleic acid--DNA | Anemia | rRNA | RNA polymerase | Embryonic growth stage | Polymerase | DNA biosynthesis | Craniofacial growth | Ribonucleic acids | Stem cells | Mutation | Developmental disabilities | Tumors | RNA helicase
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 10/2015, Volume 130, Issue 4, pp. 537 - 555
A massive expansion of a GGGGCC repeat upstream of the C9orf72 coding region is the most common known cause of amyotrophic lateral sclerosis and frontotemporal... 
Pathology | Neurosciences | Neurotoxicity | DPR inclusions | Medicine & Public Health | FTLD | ALS | Repeat disorders | C9orf72 | DEMENTIA | EXPANSIONS | PATHOLOGY | FRONTOTEMPORAL LOBAR DEGENERATION | NEUROSCIENCES | CLINICAL NEUROLOGY | MARINESCO BODIES | EXPANDED C9ORF72 | ANTISENSE TRANSCRIPTS | DISEASE | HEXANUCLEOTIDE REPEAT | RNA FOCI | Frontotemporal Lobar Degeneration - pathology | Neurons - pathology | Cell Nucleolus - pathology | Spinal Cord - metabolism | Neuroglia - pathology | Humans | Middle Aged | Brain - metabolism | DNA Repeat Expansion | Motor Neuron Disease - metabolism | Frontotemporal Lobar Degeneration - metabolism | Motor Neuron Disease - genetics | Spinal Cord - pathology | Cell Nucleolus - metabolism | Adult | C9orf72 Protein | Neurons - metabolism | Inclusion Bodies - metabolism | Motor Neuron Disease - complications | Gene Silencing | Rats | Frontotemporal Lobar Degeneration - complications | Motor Neuron Disease - pathology | Proteins - genetics | Animals | Proteins - metabolism | Brain - pathology | Inclusion Bodies - pathology | Neuroglia - metabolism | Aged | Frontotemporal Lobar Degeneration - genetics | Adaptor Proteins, Signal Transducing - metabolism | Cohort Studies | Proteins | Amyotrophic lateral sclerosis | Genetic aspects | Genetic transcription | Comparative analysis | Index Medicus | Original Paper
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Journal Article