Sox7 in vascular development: review, insights and potential mechanisms.

Cardiovascular development is crucial to the survival of higher organisms, integrally transporting oxygen and nutrients and in later life, facilitating immune function. Only in recent years has the molecular basis of the formation of this ancient conduit system been explored. While transcription factors are essential to specify and differentiate core cellular and structural components of the developing heart and vessels, only a subset of these essential factors are currently known.

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

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.

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.

Background: Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified.

Objective: To identify genomic alterations that contribute to the development of diaphragmatic defects.