RAPGEF5 Regulates Nuclear Translocation of β-Catenin.
Sign Up to like & getrecommendations! Published in 2018 at "Developmental cell"
DOI: 10.1016/j.devcel.2017.12.001
Abstract: Canonical Wnt signaling coordinates many critical aspects of embryonic development, while dysregulated Wnt signaling contributes to common diseases, including congenital malformations and cancer. The nuclear localization of β-catenin is the defining step in pathway activation.… read more here.
Keywords: wnt signaling; rapgef5; catenin; regulates nuclear ... See more keywords
A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals
Sign Up to like & getrecommendations! Published in 2020 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009028
Abstract: Idiopathic hypocalcemia in Thoroughbred (TB) foals causes tetany and seizures and is invariably fatal. Based upon the similarity of this disease with human familial hypoparathyroidism and occurrence only in the TB breed, we conducted a… read more here.
Keywords: hypoparathyroidism; rapgef5; affected foals; thoroughbred foals ... See more keywords