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Displaying 4 of 4 results for "DGCR12"
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  1. ENU mutagenesis derived Ednray129F-/- mice as a new model for human velocardiofacial syndrome/DiGeorg syndrome (VCFS/DGS) OmicsDI

    ID: E-GEOD-47781

    Date Released: 06-03-2014

    Description: Human velocardiofacial syndrom/DiGeorg (VCFS/DGS) syndrom is a complex developmental disease with various expression of a large number of phenotypes. Craniofacial, cardiac, beh...

  2. n state in Williams-Beuren (WBS), Williams-Beuren Region duplication (WBRdupS), Smith-Magenis (DGS), DiGeorge (DGS) lymphoblastoid cell lines... OmicsDI

    ID: E-GEOD-33784

    Date Released: 05-02-2014

    Description: ). These results are consistent with the observed gene expression alterations. We also pinpointed concomitant changes in histone modifications between samples. Modified genes were often looping together, possibly forming an interacting cluster. We conclude that large genomic rearrangements can lead to chromatin conformation changes that extend far away from the structural variant, thus possibly modulating expression globally and modifying the phenotype. For example, we observe that the chromatin conformation, histone marks and relative expression levels of the AUTS2 gene, mutations of which are associated with autism and intellectual disabilities, are modified in Williams-Beuren ...

  3. n state in Williams-Beuren (WBS), Williams-Beuren Region duplication (WBRdupS), Smith-Magenis (DGS), DiGeorge (DGS) lymphoblastoid cell lines... ArrayExpress

    ID: E-GEOD-33784

    Description: ). These results are consistent with the observed gene expression alterations. We also pinpointed concomitant changes in histone modifications between samples. Modified genes were often looping together, possibly forming an interacting cluster. We conclude that large genomic rearrangements can lead to chromatin conformation changes that extend far away from the structural variant, thus possibly modulating expression globally and modifying the phenotype. For example, we observe that the chromatin conformation, histone marks and relative expression levels of the AUTS2 gene, mutations of which are associated with autism and intellectual disabilities, are modified in Williams-Beuren ...

  4. ENU mutagenesis derived Ednray129F-/- mice as a new model for human velocardiofacial syndrome/DiGeorg syndrome (VCFS/DGS) ArrayExpress

    ID: E-GEOD-47781

    Description: Human velocardiofacial syndrom/DiGeorg (VCFS/DGS) syndrom is a complex developmental disease with various expression of a large number of phenotypes. Craniofacial, cardiac, beh...


Displaying 4 of 4 results for "DGCR12"