Joubert patient-derived cells also show upregulation of UNC119b. (A) RT-qPCR analysis from hURECs from JBTS CEP290 patients showed upregulation of UNC119B expression compared with control patient samples. No change in ARL3 and ARL13B gene expression level was observed. Values (dots) represent arithmetic means of −ΔΔCt values between experimental replicates (three controls, four CEP290 patients). Bars represent 95% c.i. *P<0.05; **P<0.01; ns, not significant (unpaired t-test, two-tailed). (B) In zebrafish MZcep290−/− adult kidney samples also only unc119b induction was observed. n=3 biological replicates per condition, technical triplicates. RT-qPCR data are expressed as fold change (2−ΔΔCt) compared with age-matched control samples. Data are mean±s.d.
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