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Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO. Twigg SR, et al. Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11. Am J Hum Genet. 2012. PMID: 23063620 Free PMC article.
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Horvath R, Holinski-Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bässmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez-Koref M, Chinnery PF. Horvath R, et al. Mov Disord. 2012 May;27(6):789-93. doi: 10.1002/mds.24980. Epub 2012 Apr 16. Mov Disord. 2012. PMID: 22508347
Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons.
Best A, James K, Dalgliesh C, Hong E, Kheirolahi-Kouhestani M, Curk T, Xu Y, Danilenko M, Hussain R, Keavney B, Wipat A, Klinck R, Cowell IG, Cheong Lee K, Austin CA, Venables JP, Chabot B, Santibanez Koref M, Tyson-Capper A, Elliott DJ. Best A, et al. Nat Commun. 2014 Sep 11;5:4760. doi: 10.1038/ncomms5760. Nat Commun. 2014. PMID: 25208576 Free PMC article.