Bredel et al. (2010) recently identified a subset of glioblastomas that harbor monoallelic loss of NFKBIA, which negatively affects patient prognosis. This finding raises new questions as to the role of IκBα and NF-κB in glioblastoma, the relationship between EGFR and NF-κB signaling, and potential therapeutic targets.
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| http://dx.doi.org/10.1016/j.ccr.2011.01.045 | DOI Listing |
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Genomic imprinting is required for sexual reproduction and embryonic development of mammals, in which, differentially methylated regions (DMRs) regulate the parent-specific monoallelic expression of imprinted genes. Numerous studies on imprinted genes have highlighted their critical roles in development. However, what imprinting network is essential for development is still unclear.
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Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).
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Article Synopsis
- Aromatase excess syndrome (AEXS) is a rare genetic disorder that leads to excessive conversion of androgens to estrogens, causing issues like gynecomastia and delayed puberty in males, and fewer cases reported in females.
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