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. 2012 Jul 13;91(1):15–26. doi: 10.1016/j.ajhg.2012.05.002

Figure 5.

Figure 5

Functional Analyses of TMEM165 Mutations

(A) Quantification of the wild-type (left panel) and alternative (alt) TMEM165 transcripts (right panel) in controls and affected individuals by qPCR with (+) and without (−) puromycin. Expression is measured relative to a housekeeping gene. Values plotted with a wild-type control group untreated with puromycin are set to 1. Error bars represent ± SEM. Expression of TMEM165 in control and TMEM165-deficient fibroblasts: steady-state levels of expression (B) and intracellular distribution (C).

(B) Immunoblots of whole-cell lysates from control (C) and TMEM165-deficient (P) fibroblasts. Actin levels were used as a loading control.

(C) Control and TMEM165-deficient fibroblasts were processed for immunofluorescence microscopy with TMEM165 antibodies. For comparison, images were collected under identical settings.