CEP290 | bioCADDIE Data Discovery Index
Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Displaying 3 of 3 results for "CEP290"
i
  1. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. NIMH

    ID: doi:10.15154/1206630

    Release Date: 01-30-2017

    attributes.description: rphants, whereas suppression or overexpression of CEP290 rescues phenotypes induced by KCTD13 under- or overexpression, respectively. Our data suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes of these CNVs....
  2. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families #343 Ndar Papers

    ID: 343

    Description: SATB2), and intellectual disability (e.g., FMR1, CEP290). However, there were differences between tissues and species, with the strongest effects being consistently within the CNV region itself. Our analyses suggest that through a combination of indirect regulatory effects and direct effects on nuclear architecture, alteration of 16p11.2 genes disrupts expression networks that involve other genes and pathways known to contribute to ASD, suggesting an overlap in mechanisms of pathogenesis....

    Types: Observational Study

  3. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families NIMH

    ID: doi:10.15154/1163554

    Release Date: 01-30-2017

    attributes.description: SATB2), and intellectual disability (e.g., FMR1, CEP290). However, there were differences between tissues and species, with the strongest effects being consistently within the CNV region itself. Our analyses suggest that through a combination of indirect regulatory effects and direct effects on nuclear architecture, alteration of 16p11.2 genes disrupts expression networks that involve other genes and pathways known to contribute to ASD, suggesting an overlap in mechanisms of pathogenesis....

Displaying 3 of 3 results for "CEP290"