PKHD1 and ciliopathy: A number of known genes that cause ciliopathies when mutated (e.g., Glis2, Umod, Nphp1, Invs, Nek8, Nphp4) were found to be dysregulated in our induced cell models while others previously identified as direct Hnf1b targets99,100 (e.g., Pkhd1, Pkd2) did not have a significantly changed transcriptional level.99,101, , , –105 Curiously, many of these were derepressed by HNF1B R295C.