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MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Mutations in the gene encoding the transcriptional repressor methyl-CpG binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome. Loss of function as well as increased dosage of… Expand
Aging Hematopoietic Stem Cells Decline in Function and Exhibit Epigenetic Dysregulation
- S. Chambers, C. Shaw, Catherine E Gatza, C. Fisk, L. Donehower, M. Goodell
- Biology, Medicine
- PLoS biology
- 24 July 2007
Age-related defects in stem cells can limit proper tissue maintenance and hence contribute to a shortened lifespan. Using highly purified hematopoietic stem cells from mice aged 2 to 21 mo, we… Expand
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most… Expand
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.
Array-CGH is a powerful tool for the detection of chromosomal aberrations. The introduction of high-density SNP genotyping technology to genomic profiling, termed SNP-CGH, represents a further… Expand
A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration
Many human inherited neurodegenerative disorders are characterized by loss of balance due to cerebellar Purkinje cell (PC) degeneration. Although the disease-causing mutations have been identified… Expand
Activation of Multiple Proto-oncogenic Tyrosine Kinases in Breast Cancer via Loss of the PTPN12 Phosphatase
Among breast cancers, triple-negative breast cancer (TNBC) is the most poorly understood and is refractory to current targeted therapies. Using a genetic screen, we identify the PTPN12 tyrosine… Expand
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
- L. Potocki, W. Bi, +17 authors J. Lupski
- Medicine, Biology
- American journal of human genetics
- 1 April 2007
The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal… Expand
Hematopoietic fingerprints: an expression database of stem cells and their progeny.
Hematopoietic stem cells (HSCs) continuously regenerate the hematologic system, yet few genes regulating this process have been defined. To identify candidate factors involved in differentiation and… Expand
MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome
- L. Chen, Kaifu Chen, +4 authors H. Zoghbi
- Medicine, Biology
- Proceedings of the National Academy of Sciences
- 13 April 2015
Significance Decades of research have not deciphered the mechanism by which methyl-CpG binding protein 2 (MeCP2) regulates transcription and why Rett symptoms manifest 1 to 2 y after birth. We… Expand
A SUMOylation-Dependent Transcriptional Subprogram Is Required for Myc-Driven Tumorigenesis
Taking the Myc Despite nearly 30 years of research into the mechanisms by which Myc oncogene dysregulation contributes to tumorigenesis, there are still no effective therapies that inhibit Myc… Expand