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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Alharatani R, et al. Among authors: khokha m. Hum Mol Genet. 2020 Jul 21;29(11):1900-1921. doi: 10.1093/hmg/ddaa050. Hum Mol Genet. 2020. PMID: 32196547 Free PMC article.
RAPGEF5 Regulates Nuclear Translocation of β-Catenin.
Griffin JN, Del Viso F, Duncan AR, Robson A, Hwang W, Kulkarni S, Liu KJ, Khokha MK. Griffin JN, et al. Dev Cell. 2018 Jan 22;44(2):248-260.e4. doi: 10.1016/j.devcel.2017.12.001. Epub 2017 Dec 28. Dev Cell. 2018. PMID: 29290587 Free PMC article.
115 results