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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: grillo e. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
The D647N mutation of FGFR1 induces ligand-independent receptor activation.
Domenichini M, Ravelli C, Corsini M, Codenotti S, Moreschi E, Gogna A, Capoferri D, Zizioli D, Bresciani R, Grillo E, Mitola S. Domenichini M, et al. Among authors: grillo e. Biochim Biophys Acta Gen Subj. 2023 Dec;1867(12):130470. doi: 10.1016/j.bbagen.2023.130470. Epub 2023 Sep 29. Biochim Biophys Acta Gen Subj. 2023. PMID: 37778450 Free article.
149 results