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. 2022 Jul 15;12(7):e961. doi: 10.1002/ctm2.961

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© 2022 The Authors. Clinical and Translational Medicine published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Expression of Sonic Hedgehog and notch pathway genes. (A) Expression of Sonic Hedgehog (SHH)‐associated genes. GLI3 is over‐expressed in distal versus proximal biopsies, but not in cell lines. (B) Expression of Notch‐associated genes. CTBP1 is consistently overexpressed and is the target of small molecule NSC95397. The gamma secretase subunit APHA1A is also consistently expressed in both subtypes. Nirogacestat, a clinically investigated gamma secretase inhibitor, may be a viable therapeutic.