Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

Keyphrases

• Kinetochore 100%
• CENPE 100%
• Microcephalic Osteodysplastic Primordial Dwarfism 100%
• Centrosome 60%
• Mitotic Progression 60%
• Spindle Microtubules 60%
• Associated Proteins 40%
• Patient Cells 40%
• Primary Microcephaly 40%
• Centromere-associated Protein E 40%
• Cell Analysis 20%
• Cell Systems 20%
• Mitotic Chromosomes 20%
• Mitosis 20%
• Microtubules 20%
• Pathogenicity 20%
• DNA Damage 20%
• Spindle 20%
• Complex Networks 20%
• Phenocopy 20%
• Chromosome Congression 20%
• Gyrus 20%
• Clinical Description 20%
• Microtubule Organization 20%
• Pathomechanism 20%
• Developmental Delay 20%
• Core Protein 20%
• Protein Network 20%
• Developmental Disorders 20%
• Segregation Defect 20%
• Physical Connectivity 20%
• Mitotic Entry 20%
• Mitotic Exit 20%
• Microcephalic Osteodysplastic Primordial Dwarfism Type II 20%
• Spindle Abnormalities 20%
• Associated Structure 20%
• Cell-cycle Stages 20%
• Microtubule Attachment 20%
• G2/M Cell Cycle Checkpoint 20%
• Potential Target Gene 20%
• Novel Compound Heterozygous Variants 20%

Biochemistry, Genetics and Molecular Biology

• Kinetochore 100%
• Chromosome 60%
• Centrosome 60%
• Centromere 40%
• PCNT 40%
• Phenocopy 20%
• DNA Damage 20%
• Cell Cycle 20%
• Cell Cycle Checkpoint 20%
• Mitosis 20%