Patsy R Tomlinson, Rachel G Knox ... Robert K Semple
PIK3R1 mutations that cause immunodeficiency through PI3-kinase hyperactivation also cause SHORT syndrome, due to PI3-kinase hypofunction, attributable to PI3-kinase destabilisation and outcompetition by mutant PIK3R1.
Integration of GWAS summary statistics with extensive 3D genomic datasets generated in a myriad of different cell types provides genomic insights into pediatric obesity pathogenesis.
Exploiting the power of the Fshr reporter, the first comprehensive genetic record of the spatial distribution of FSHR expression offers prospects for extensive exploration of FSH-FSHR biology.
