Yingyao Shao
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"A Novel Pathogenic Mutation of MeCP2 Impairs Chromatin Association Ind" by Jian Zhou, Claudia Cattoglio et al.
Keywords Female, Humans, Male, Mice, Animals, Chromatin, Brain, Methyl-CpG-Binding Protein 2, Rett Syndrome, Mutation, Neurons, : chromatin dynamics, MeCP2, neurological disorders, Rett syndrome, single-molecular imaging Abstract Loss-of-function mutations in MECP2 cause Rett syndrome (RTT), a severe neurological disorder that mainly affects girls. Mutations in MECP2 do occur in males occasionally and typically cause severe encephalopathy and premature lethality.
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels
1,2,5,7,8,12 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA; 2Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA; 3Department of Molecular and Cell Biology, Li Ka Shing Center for Biomedical and Health Sciences, California Institute for Regenerative Medicine (CIRM) Center of Excellence, University of California, Berkeley, Berkeley, California 94720, USA; 4Howard Hughes Medical...
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