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AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Terhal P, Venhuizen AJ, Lessel D, Tan WH, Alswaid A, Grün R, Alzaidan HI, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein RAJ, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice MM, Kornak U. Terhal P, et al. Among authors: maurice mm. Am J Hum Genet. 2023 Sep 7;110(9):1470-1481. doi: 10.1016/j.ajhg.2023.07.011. Epub 2023 Aug 14. Am J Hum Genet. 2023. PMID: 37582359 Free PMC article.
Building a complex for destruction.
Venhuizen AJ, van der Krift F, Maurice MM. Venhuizen AJ, et al. Among authors: maurice mm. Mol Cell. 2021 Aug 19;81(16):3241-3243. doi: 10.1016/j.molcel.2021.07.032. Mol Cell. 2021. PMID: 34416136 Free article.
RNF43 truncations trap CK1 to drive niche-independent self-renewal in cancer.
Spit M, Fenderico N, Jordens I, Radaszkiewicz T, Lindeboom RG, Bugter JM, Cristobal A, Ootes L, van Osch M, Janssen E, Boonekamp KE, Hanakova K, Potesil D, Zdrahal Z, Boj SF, Medema JP, Bryja V, Koo BK, Vermeulen M, Maurice MM. Spit M, et al. Among authors: maurice mm. EMBO J. 2020 Sep 15;39(18):e103932. doi: 10.15252/embj.2019103932. Epub 2020 Aug 10. EMBO J. 2020. PMID: 32965059 Free PMC article.
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G. Kievit A, et al. Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18. Eur J Hum Genet. 2018. PMID: 29348693 Free PMC article.
Critical scaffolding regions of the tumor suppressor Axin1 are natively unfolded.
Noutsou M, Duarte AM, Anvarian Z, Didenko T, Minde DP, Kuper I, de Ridder I, Oikonomou C, Friedler A, Boelens R, Rüdiger SG, Maurice MM. Noutsou M, et al. Among authors: maurice mm. J Mol Biol. 2011 Jan 21;405(3):773-86. doi: 10.1016/j.jmb.2010.11.013. Epub 2010 Nov 16. J Mol Biol. 2011. PMID: 21087614 Free article.
Canonical Wnt signaling negatively modulates regulatory T cell function.
van Loosdregt J, Fleskens V, Tiemessen MM, Mokry M, van Boxtel R, Meerding J, Pals CE, Kurek D, Baert MR, Delemarre EM, Gröne A, Koerkamp MJ, Sijts AJ, Nieuwenhuis EE, Maurice MM, van Es JH, Ten Berge D, Holstege FC, Staal FJ, Zaiss DM, Prakken BJ, Coffer PJ. van Loosdregt J, et al. Among authors: maurice mm. Immunity. 2013 Aug 22;39(2):298-310. doi: 10.1016/j.immuni.2013.07.019. Epub 2013 Aug 15. Immunity. 2013. PMID: 23954131 Free article.
67 results