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Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S. Winter J, et al. Among authors: schweiger s. Hum Genet. 2003 Mar;112(3):249-54. doi: 10.1007/s00439-002-0901-5. Epub 2003 Jan 24. Hum Genet. 2003. PMID: 12545276
The E3 ubiquitin ligase MID1 catalyzes ubiquitination and cleavage of Fu.
Schweiger S, Dorn S, Fuchs M, Köhler A, Matthes F, Müller EC, Wanker E, Schneider R, Krauß S. Schweiger S, et al. J Biol Chem. 2014 Nov 14;289(46):31805-31817. doi: 10.1074/jbc.M113.541219. Epub 2014 Oct 2. J Biol Chem. 2014. PMID: 25278022 Free PMC article.
The Opitz syndrome gene product, MID1, associates with microtubules.
Schweiger S, Foerster J, Lehmann T, Suckow V, Muller YA, Walter G, Davies T, Porter H, van Bokhoven H, Lunt PW, Traub P, Ropers HH. Schweiger S, et al. Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):2794-9. doi: 10.1073/pnas.96.6.2794. Proc Natl Acad Sci U S A. 1999. PMID: 10077590 Free PMC article.
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. So J, et al. Among authors: schweiger s. Am J Med Genet A. 2005 Jan 1;132A(1):1-7. doi: 10.1002/ajmg.a.30407. Am J Med Genet A. 2005. PMID: 15558842
120 results