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Integrated Genomics Identifies Five Medulloblastoma Subtypes with Distinct Genetic Profiles, Pathway Signatures and Clinicopathological Features
TLDR
The new medulloblastoma classification presented in this study will greatly enhance the understanding of this heterogeneous disease and enable a better selection and evaluation of patients in clinical trials, and it will support the development of new molecular targeted therapies. Expand
Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing
TLDR
This comprehensive data set allowed us to decipher several features underlying the interplay between the genome, epigenome and transcriptome, and its effects on medulloblastoma pathophysiology, including highly prevalent regions of hypomethylation correlating with increased gene expression and focal regions of low methylation linked to transcription-factor-binding sites shed light on differential transcriptional networks between subgroups. Expand
OTX2 directly activates cell cycle genes and inhibits differentiation in medulloblastoma cells
TLDR
It is demonstrated that OTX2 is essential in medulloblastoma and directly drives proliferation by regulation of cell cycle genes. Expand
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
TLDR
The largest clinical cohort to date with DDX3X mutations is reported, demonstrating a striking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe clinical outcomes and showing that Ddx3x controls cortical development by regulating neuronal generation and migration. Expand
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
TLDR
This work identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum without intellectual disability that result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Expand
Regulation of Cell Cycle Genes and Induction of Senescence by Overexpression of OTX2 in Medulloblastoma Cell Lines
TLDR
It is hypothesized that the imbalance in cell cycle stimulation by OTX2 leads to cellular senescence either by activating the P53 pathway or through the induction of secretory factors. Expand
Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.
TLDR
It is demonstrated that midline crossing of callosal axons is dependent upon the prior remodeling and degradation of the intervening interhemispheric fissure, and that developmental defects in interhemisphere remodeling are likely to be a primary etiology underlying human callosal agenesis. Expand
OTX2 sustains a bivalent-like state of OTX2-bound promoters in medulloblastoma by maintaining their H3K27me3 levels
TLDR
It is reported that polycomb genes, required for H3K27 methylation, are consistently upregulated in Group 3 and 4 tumors and seems to be an important function of OTX2 in medulloblastoma, while other transcription factors might regulate the actual expression levels of these genes. Expand
Variants in nuclear factor I genes influence growth and development
TLDR
The nuclear factor one (NFI) site‐specific DNA‐binding proteins represent a family of transcription factors that are important for the development of multiple organ systems, including the brain, and the possibility of variants in NFI genes should be considered in individuals with intellectual disability and brain overgrowth. Expand
The convergent roles of the nuclear factor I transcription factors in development and cancer.
TLDR
The evidence suggesting a converging role for the NFI genes in development and cancer is summarized, and the challenges impeding the understanding of NFI function in cancer biology are presented, to demonstrate how a developmental perspective may contribute towards overcoming such hurdles. Expand
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