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Nature, ISSN 0028-0836, 09/2012, 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... 
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
Molecular Cell, ISSN 1097-2765, 09/2010, Volume 39, Issue 6, pp. 963 - 974
Journal Article
Nature, ISSN 0028-0836, 04/2012, Volume 484, Issue 7393, pp. 208 - 213
In mitosis, the spindle assembly checkpoint (SAC) ensures genome stability by delaying chromosome segregation until all sister chromatids have achieved bipolar... 
ANAPHASE-PROMOTING COMPLEX | FISSION YEAST | KEN BOX | BUDDING YEAST | PROTEIN BUBR1 | MULTIDISCIPLINARY SCIENCES | PSEUDOSUBSTRATE INHIBITION | DESTRUCTION BOX | SACCHAROMYCES-CEREVISIAE | MAD2 ACTIVATION | SPINDLE-ASSEMBLY CHECKPOINT | Anaphase-Promoting Complex-Cyclosome | Schizosaccharomyces pombe Proteins - chemistry | M Phase Cell Cycle Checkpoints | Schizosaccharomyces - chemistry | Humans | Ubiquitin-Protein Ligase Complexes - antagonists & inhibitors | Substrate Specificity | Crystallography, X-Ray | Structure-Activity Relationship | Spindle Apparatus | Cell Cycle Proteins - chemistry | Multiprotein Complexes - metabolism | Cdh1 Proteins | Protein Structure, Quaternary | Schizosaccharomyces pombe Proteins - metabolism | Conserved Sequence | Mad2 Proteins | Cdc20 Proteins | Protein Structure, Tertiary | Cell Cycle Proteins - metabolism | Models, Molecular | Nuclear Proteins - metabolism | Saccharomyces cerevisiae Proteins - genetics | Nuclear Proteins - chemistry | Ubiquitin-Protein Ligase Complexes - chemistry | Amino Acid Motifs | Multiprotein Complexes - chemistry | Ubiquitin-Protein Ligase Complexes - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Saccharomyces cerevisiae Proteins - chemistry | Ubiquitin-Protein Ligase Complexes - ultrastructure | Proteins | Kinases | Binding sites | Crystal structure
Journal Article
Journal Article
Nature, ISSN 0028-0836, 07/2015, Volume 523, Issue 7562, pp. 555 - 560
Journal Article
Trends in Biochemical Sciences, ISSN 0968-0004, 02/2015, Volume 40, Issue 2, pp. 117 - 125
Journal Article
Neuron, ISSN 0896-6273, 09/2013, Volume 79, Issue 6, pp. 1169 - 1182
The gene is located in a chromosomal region linked to various neurological disorders, including intellectual disability, autism, and schizophrenia. CYFIP1... 
MAMMALIAN TARGET | LOCAL PROTEIN-SYNTHESIS | AUTISM | FMRP | MOUSE MODEL | FRAGILE-X-SYNDROME | MECHANISMS | RAC1 | SYNAPTIC PLASTICITY | NEUROSCIENCES | CRITICAL REGION | Humans | Male | Fragile X Mental Retardation Protein - metabolism | Green Fluorescent Proteins - genetics | RNA, Messenger - metabolism | Mental Disorders - genetics | Brain-Derived Neurotrophic Factor - pharmacology | Neurons - ultrastructure | Time Factors | Chromatography, Liquid | Nerve Tissue Proteins - ultrastructure | Enzyme Inhibitors - pharmacology | Mice, Transgenic | Pyrimidines - pharmacology | Synaptosomes - ultrastructure | Analysis of Variance | Indole Alkaloids - pharmacology | Protein Biosynthesis - drug effects | Mice | Carbazoles - pharmacology | Adaptor Proteins, Signal Transducing - chemistry | Synaptosomes - drug effects | Meta-Analysis as Topic | Immunoprecipitation | Age Factors | Synaptosomes - metabolism | Cerebral Cortex - cytology | Microscopy, Immunoelectron | DNA-Binding Proteins - metabolism | Tandem Mass Spectrometry | Nerve Tissue Proteins - chemistry | Transfection | Dendritic Spines - drug effects | Protein Biosynthesis - genetics | Neurons - drug effects | Aminoquinolines - pharmacology | Green Fluorescent Proteins - metabolism | Gene Expression Regulation - genetics | Mice, Inbred C57BL | Cells, Cultured | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Animals | Adaptor Proteins, Signal Transducing - genetics | Fragile X Mental Retardation Protein - ultrastructure | Dendritic Spines - genetics | Fragile X Mental Retardation Protein - genetics | Adaptor Proteins, Signal Transducing - metabolism | In Vitro Techniques | Dendritic Spines - ultrastructure | Luminescent Proteins - metabolism | Nervous system diseases | Neurosciences | Neurons | Oncology, Experimental | Genes | Polymerization | Schizophrenia | Protein biosynthesis | Research | Genetic translation | Messenger RNA | Actin | Cancer | Proteins | Brain-derived neurotrophic factor | Protein synthesis | Crystal structure
Journal Article