Disease: Bowen-Conradi syndrome
- A Hutterite condition that mimics Bowen-Conradi syndrome
- Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites
- Bowen-Conradi: a common Hutterite condition that mimics trisomy 18
- Chemical Modifications of Ribosomal RNA
- Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment
- Genetic interactions of yeast NEP1 (EMG1), encoding an essential factor in ribosome biogenesis
- Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression
- How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies
- Human diseases of the SSU processome
- Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay
- Naturally occurring modified ribonucleosides
- Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment
- Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets
- Structural insight into the functional mechanism of Nep1/Emg1 N1-specific pseudouridine methyltransferase in ribosome biogenesis
- 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 psi1191 in yeast 18S rRNA
- 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