Associated Papers
EMG1 cooperates with GRHL3 in β-catenin-mediated surface ectoderm differentiation to regulate neural tube closure.
Kimura-Yoshida C et al.
Development (cambridge, England), 2025
Essential role of Dhx16-mediated ribosome assembly in maintenance of hematopoietic stem cells.
Li Z et al.
Leukemia, 2024
Quality control ensures fidelity in ribosome assembly and cellular health.
Parker MD et al.
The Journal of Cell Biology, 2023
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.
Suzuki T et al.
Journal of Human Genetics, 2018
Identifying pathogenicity of human variants via paralog-based yeast complementation.
Yang F et al.
Plos Genetics, 2017
Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment.
Warda AS et al.
Human Molecular Genetics, 2016
Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression.
Armistead J et al.
Biochimica Et Biophysica Acta, 2015
Mouse Models of Rare Craniofacial Disorders.
Achilleos A et al.
Current Topics in Developmental Biology, 2015
Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay.
Armistead J et al.
Bba Clinical, 2014
The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA.
Meyer B et al.
Nucleic Acids Research, 2011
Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect.
De Souza RA
Clinical Genetics, 2010
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Armistead J et al.
American Journal of Human Genetics, 2009
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