Article
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
Human molecular genetics - 15 Dec 2018
De Castro Sandra C P, Gustavsson Peter, Marshall Abigail R, Gordon William M, Galea Gabriel, Nikolopoulou Evanthia, Savery Dawn, Rolo Ana, Stanier Philip, Andersen Bogi, Copp Andrew J, Greene Nicholas D E
Abstract excerpt
The genetic basis of human neural tube defects (NTDs), such as anencephaly and spina bifida (SB), is complex and heterogeneous. Grainyhead-like genes represent candidates for involvement in NTDs based on the presence of SB and exencephaly in mice carrying loss-of-function alleles of Grhl2 or Grhl3. We found that reinstatement of Grhl3 expression, by bacterial artificial chromosome (BAC)-mediated transgenesis,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
