PMC Links for Protein (Select 194328699) - PMC

Select item 54188331.

Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment

Ahmed S. Warda, Bernard Freytag, Sara Haag, Katherine E. Sloan, Dirk Görlich, Markus T. Bohnsack

Hum Mol Genet. 2016 Dec 15; 25(24): 5353–5364. Published online 2016 Oct 23. doi: 10.1093/hmg/ddw351

PMCID:: PMC5418833

Select item 28531122.

The ribosome assembly factor Nep1 responsible for Bowen–Conradi syndrome is a pseudouridine-N1-specific methyltransferase

Jan Philip Wurm, Britta Meyer, Ute Bahr, Martin Held, Olga Frolow, Peter Kötter, Joachim W. Engels, Alexander Heckel, Michael Karas, Karl-Dieter Entian, Jens Wöhnert

Nucleic Acids Res. 2010 Apr; 38(7): 2387–2398. Published online 2010 Jan 4. doi: 10.1093/nar/gkp1189

PMCID:: PMC2853112

Abstract Article PDF–5.5M

Select item 26949723.

Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

Joy Armistead, Sunita Khatkar, Britta Meyer, Brian L. Mark, Nehal Patel, Gail Coghlan, Ryan E. Lamont, Shuangbo Liu, Jill Wiechert, Peter A. Cattini, Peter Koetter, Klaus Wrogemann, Cheryl R. Greenberg, Karl-Dieter Entian, Teresa Zelinski, Barbara Triggs-Raine

Am J Hum Genet. 2009 Jun 12; 84(6): 728–739. doi: 10.1016/j.ajhg.2009.04.017