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A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals.
Rivas VN, Magdesian KG, Fagan S, Slovis NM, Luethy D, Javsicas LH, Caserto BG, Miller AD, Dahlgren AR, Peterson J, Hales EN, Peng S, Watson KD, Khokha MK, Finno CJ. Rivas VN, et al. Among authors: khokha mk. PLoS Genet. 2020 Sep 28;16(9):e1009028. doi: 10.1371/journal.pgen.1009028. eCollection 2020 Sep. PLoS Genet. 2020. PMID: 32986719 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. Among authors: khokha mk. 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.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. Marquez J, et al. Among authors: khokha mk. J Med Genet. 2021 Jul;58(7):453-464. doi: 10.1136/jmedgenet-2019-106805. Epub 2020 Jul 6. J Med Genet. 2021. PMID: 32631816 Free PMC article.
Obtaining Xenopus tropicalis Eggs.
Lane M, Mis EK, Khokha MK. Lane M, et al. Among authors: khokha mk. Cold Spring Harb Protoc. 2022 Apr 1;2022(4):Pdb.prot106344. doi: 10.1101/pdb.prot106344. Cold Spring Harb Protoc. 2022. PMID: 34031209
114 results