English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Open

Recurrent microdeletions of 8p23.1 that include  GATA4  and  SOX7  confer a high risk of both congenital diaphragmatic hernia (CDH) and cardiac defects. Although GATA4-deficient mice have both CDH and cardiac defects, no humans with cardiac defects attributed to  GATA4  mutations have been reported to have CDH. We were also unable to identify deleterious  GATA4  sequence changes in a CDH cohort. This suggested that haploinsufficiency of another 8p23.1 gene may contribute, along with  GATA4 , to the development of CDH. To determine if haploinsufficiency of  SOX7 —another transcription factor encoding gene—contributes to the development of CDH, we generated mice with a deletion of the second exon of  Sox7 . A portion of these  Sox7  Δex2/+  mice developed retrosternal diaphragmatic hernias located in the anterior muscular portion of the diaphragm. Anterior CDH is also seen in  Gata4  +/−  mice and has been described in association with 8p23.1 deletions in humans. Immunohistochemistry revealed that SOX7 is expressed in the vascular endothelial cells of the developing diaphragm and may be weakly expressed in some diaphragmatic muscle cells.  Sox7  Δex2/Δex2  embryos die prior to diaphragm development with dilated pericardial sacs and failure of yolk sac remodeling suggestive of cardiovascular failure. Similar to our experience screening  GATA4 , no clearly deleterious  SOX7  sequence changes were identified in our CDH cohort. We conclude that haploinsufficiency of  Sox7  or  Gata4  is sufficient to produce anterior CDH in mice and that haploinsufficiency of  SOX7  and  GATA4  may each contribute to the development of CDH in individuals with 8p23.1 deletions.

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1