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. 2020 Mar 20;29(11):1900–1921. doi: 10.1093/hmg/ddaa050

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© The Author(s) 2020. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Model of CTNND1 function in systemic disease. (A) CTNND1 mutations are not only implicated in conditions that affect epithelial structures but also systemic conditions that originate from mesenchymal roles of p120-catenin. Structures in pink circles have been described in previous publications on CTNND1 (1,2); structures in blue circles have been implicated previously in CTNND1-related disorders (1,2) and in this study. Structures in yellow circles have been identified in this study. (B) BCD is primarily due to disturbances in E-cadherin/p120 interactions. The inclusion of other organ systems described here highlights the involvement of other known molecular functions of p120, such as its role in the WNT signalling pathway and its interactions with Rho-GTPases, demonstrating its mesenchymal roles in producing these systemic conditions.